Clinical Cases & Pearls in Medicine GS Sainani
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1Clinical Cases in Medicine
Outlines
  • 1. Gastroenterology
  • 2. Respiratory System
  • 3. Cardiovascular System
  • 4. Nephrology
  • 5. Neurology
  • 6. Hematology
  • 7. Oncology
  • 8. Endocrinology
  • 9. Metabolic Diseases
  • 10. Musculoskeletal System
  • 11. Miscellaneous2

GastroenterologySection 1

Outlines
  • Case 1 Achalasia Cardia
  • Case 2 Hiatus Hernia
  • Case 3 Cirrhosis of Liver
  • Case 4 Primary Biliary Cirrhosis
  • Case 5 Wilson's Disease
  • Case 6 Hepatomegaly
  • Case 7 Splenomegaly
  • Case 8 Felty's Syndrome
  • Case 9 Hepatosplenomegaly
  • Case 10 Ascites
  • Case 11 Jaundice
  • Case 12 Noncirrhotic Portal Fibrosis (NCPF)
  • Case 13 Tuberculosis of Abdomen
  • Case 14 Crohn's Disease
  • Case 15 Ulcerative Colitis
  • Case 16 Amebic Liver Abscess
  • Case 17 Hemochromatosis
 
 
BASIC CONSIDERATIONS
The gastrointestinal (GI) system extends from oral cavity to anus. It is a system of serially connected structures—oral cavity, oropharynx, esophagus, stomach, small intestine, large intestine and anal canal. There are secretary glands all along the GI tract. The main functions of GI system are processing, propulsion, absorption and elimination of ingested food and liquids. Other functions are related to secretion of gut hormones and immunological response.4
 
CASE 1: ACHALASIA CARDIA
 
SALIENT CLINICAL FEATURES
  • Idiopathic motility disorder causing loss of peristalsis in smooth muscle of lower esophagus with poor relaxation of esophageal sphincter.
  • Insidious onset of dysphagia for solids and later liquids.
  • Retrosternal discomfort, regurgitation of food particularly at night, cough, aspiration, loss of weight.
  • Barium swallow study—esophageal dilation, delayed esophageal emptying, “Birds beak” tapering of lower esophagus (Fig. 1.1).
  • Endoscopy and esophageal manometry confirm the diagnosis.
  • Nifedipine orally (nifedipine retard 20 mg 1 BD) gives temporary relief.
  • Surgical myotomy: Modified Heller Cardiomyotomy and antireflux procedure (fundoplication) performed laparoscopically give good results.
    zoom view
    Fig. 1.1: Achalasia cardia
5
 
CASE 2: HIATUS HERNIA
 
INTRODUCTION
In a healthy person, the distal esophageal sphincter is contracted and it relaxes only during swallowing. In some cases of gastroesophageal reflux disease (GERD), distal esophageal sphincter tone is reduced resulting in reflux when intra-abdominal pressure rises; whereas in others, because of episodic inappropriate relaxation of sphincter, reflux occurs.
In a healthy person, pressure gradient between the abdominal and thoracic cavities pinches the hiatus and prevents reflux. But in hiatus hernia, the pressure gradient is lost leading to herniation of stomach which is of two types: (1) sliding (2) paraesophageal (Fig. 1.2). It must be stressed that GERD is not related to size of hernia. It is not uncommon to see patients of hiatus hernia without any symptoms, and patients with GERD symptoms may have very small or no hernia. However, large majority of patients who have esophagitis, Barrett's esophagus or gastric stricture have a hiatus hernia.
 
SALIENT CLINICAL FEATURES
  • The common symptoms are retrosternal burning pain and reflux which are precipitated by bending or lying down. Also patient gets “water brash” which results from salivary gland stimulation by acid entering the throat by reflux. Choking or dysphagia are other symptoms due to refluxed acidic fluid irritating the larynx and esophagus. Reflux can cause esophageal spasm causing atypical angina pain.
  • Hiatus hernia due to reflux can cause laryngitis, recurrent chest infection, cough and worsening of bronchial asthma. It is documented that reflux is more common in bronchial asthma and asthma is more common in GERD patients.
    zoom view
    Fig. 1.2: Types of hiatus hernia (sliding and paraesophageal)
 
INVESTIGATIONS
  • Upper GI endoscopy is the investigation of choice. It also helps in excluding other gastric-intestinal disorders and also to diagnose complications.6
    zoom view
    Fig. 1.3: Irreducible sliding hiatus hernia
    zoom view
    Fig. 1.4: Gas bubble retrocardiac region due to irreducible hiatus hernia
  • Twenty-four hours pH monitoring is done when in doubt about the diagnosis or before surgery. A pH less than 4 for more than 6% of the study time is diagnostic of reflux disease.
  • X-ray with barium swallow will also demonstrate hiatus hernia (Figs 1.3 and 1.4).
 
COMPLICATIONS
  • Esophagus of variable degree from minimal redness to ulcerations and stricture formation have been documented on endoscopic examination and symptoms have poor relationship.
  • Barrett's esophagus: It is a premalignant condition in which normal squamous lining of esophagus is converted to columnar mucosa with areas of intestinal metaplasia. Columnar lined esophagus is a major risk factor for esophageal adenocarcinoma.
  • Anorexia: Iron deficiency anemia occurs due to chronic blood loss from chronic esophagitis, occasionally bleeding can occur due to subtle erosions in the neck of hernial sac.
  • Benign esophageal strictures: Due to long standing esophagitis, strictures may occur.
  • Volvulus of stomach: Occasionally a large hiatus hernia in chest may twist resulting in volvulus of stomach.
 
MANAGEMENT
 
Medical
  • Usually patients with hiatus hernia and GERD are obese, hence they should be advised to reduce weight.
  • To avoid food articles which trigger symptoms.
  • To raise bed head particularly in those who get symptoms in supine position.
  • To have early and light dinner.
  • To stop smoking.
  • Antacids, PPIs, e.g. Pantoprazole and/or H2-receptor antagonists, e.g. Ranitidine give symptomatic relief.
  • If Helicobacter pylori is detected, it should be treated but it does not have much therapeutic value.
 
Surgical
Failure to medical therapy and patients having severe reflux should be referred for laparoscopic antireflux surgery following which majority feel relieved from retrosternal burning and reflux. However, few may develop complications of abdominal bloating (gas bloat syndrome).7
 
CASE 3: CIRRHOSIS OF LIVER
 
INTRODUCTION
There is a progressive fibrosis with disorganization of the liver architecture and regeneration with nodule formation.
 
ETIOLOGICAL CAUSES
  • Chronic viral hepatitis: Hepatitis B virus (HBV) and/or Hepatitis C virus (HCV) infection. In India, HBV is more common (50–70%) than HCV.
  • Alcoholic hepatitis: Overall globally alcohol is common cause. HBV infection has high prevalence amongst Indian alcoholics.
  • Cryptogenic (idiopathic): It is fairly common in India.
  • Autoimmune hepatitis
  • Malnutrition: It is seen amongst poor socioeconomic persons.
Other uncommon causes: Primary biliary cirrhosis, Indian childhood cirrhosis, Wilson's disease, Glycogen storage disease, hemochromatosis, diabetes mellitus, lupoid hepatitis, galactosemia, chronic venous outflow obstruction (cardiac cirrhosis in chronic CCF, constrictive pericarditis, Budd–Chiari syndrome), drug toxicity (methotrexate, amiodarone), schistosomiasis in African countries.
 
CLINICAL FEATURES
For clinical features see Figures 1.5 and 1.6
 
HISTOPATHOLOGY
Cirrhosis liver can be micronodular characterized by small nodules about 1 mm in diameter as seen in alcoholic cirrhosis or macronodular characterized by larger nodules and large fibrous scars as seen in postnecrotic cirrhosis.
 
INVESTIGATIONS
  • Liver function tests: These may be normal in early stages. One has to look for low serum albumin and elevated serum globulin with altered albumin: globulin ratio. Elevated enzymes—Gamma-GT, SGOT, SGPT more so in alcoholic liver cirrhosis.
    zoom view
    Fig. 1.5: Clinical features in cirrhosis liver
    zoom view
    Fig. 1.6: Distended abdominal veins in cirrhosis liver (flow away from umbilicus)
    8In biliary cirrhosis serum bilirubin and alkaline phosphatase are elevated. In cirrhosis bilirubin is elevated in late stages carrying serious prognosis.
  • Viral markers: HBV and HCV should be done.
  • Microcytic anemia: Blood loss due to hematemesis or bleeding piles or macrocytic anemia, leukopenia, thrombocytopenia (hypersplenism). Prolonged prothrombin time reflects coagulation defects in advanced cirrhosis with hepatocellular dysfunction.
  • In autoimmune hepatitis, antinuclear antibodies are seen.
  • In severe hepatocellular dysfunction (hepatic encephalopathy) elevated serum ammonia and glutamate levels are measured to monitor the progress.
  • USG abdomen will show liver, spleen size, free fluid in abdomen, fatty liver and carcinoma of liver. CT scan and MRI are done to diagnose hemochromatosis.
  • Radionuclide liver scan is diagnostic of cirrhosis liver.
  • Barium swallow (Fig. 1.7) and EGD-scopy (Fig. 1.8) to detect esophageal and gastric varices.
  • Diagnostic ascitic tap and examination of fluid to determine whether it is transudate (protein < 2.5 g with few cells) or exudate (protein > 2.5 g plus predominant lymphocytes) and elevated ADA (adenosine deaminase) are diagnostic of tuberculous peritonitis.
  • Spontaneous bacterial peritonitis—protein less than 1 g/dL plus polymorphs more than 250/mm3.
  • In malignancy, malignant cells are seen.
  • In pancreatitis, amylase levels are raised.
  • Liver biopsy confirms the diagnosis.
  • Alpha fetoprotein is elevated if hepatocellular carcinoma has set in.
 
COMPLICATIONS
  • Hematemesis: Due to rupture of esophageal or gastric varices (Fig. 1.9), peptic ulcer or erosive gastropathy.
    zoom view
    Fig. 1.7: Barium swallow showing esophageal varices in cirrhosis liver
    zoom view
    Fig. 1.8: EGD-scopy showing esophageal varices
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    Fig. 1.9: EGD-scopy—bleeding esophageal varices
  • 9Hepatic encephalopathy.
  • Hepatocellular carcinoma occurs particularly in patients with hepatitis C (90%) or hepatitis B infection.
  • Spontaneous bacterial peritonitis.
  • Hepatorenal syndrome: It occurs in chronic cases of liver cirrhosis with ascites with progressive signs of renal failure (elevated serum creatinine, blood urea, hyperkalemia) set in and patient usually dies within 6 months.
 
PROGNOSIS
It varies according to the degree of liver cell damage and resultant complications and comorbid conditions.
 
MANAGEMENT OF CIRRHOSIS LIVER
  • Low salt (3 g/day) and high protein (1 g/kg body weight).
  • Alcohol is to be stopped permanently.
  • Diuretics—furosemide and spironolactone are recommended.
  • In Wilson's disease, D-penicillamine and trientine hydrochloride are recommended.
  • In biliary cirrhosis, ursodeoxycholic acid (12.15 mg/kg/day) is recommended to decrease liver damage.
  • In hemochromatosis, iron chelation is carried out.
  • In viral cases, antiviral agents are administered.
  • In renal failure, avoid hypovolemia, avoid diuretics, rehydration, albumin infusion.
  • In spontaneous bacterial peritonitis give antibiotics and diuretics for ascites.
 
MANAGEMENT OF HEMATEMESIS
  • Nonselective beta blocker, e.g. propranolol 40 mg OD.
  • Banding of varices through EGD-scopy (Fig. 1.10) or endoscopic sclerotherapy with octreotide or TIPS (transjugular intra-hepatic portosystemic stent shunting).
    zoom view
    Fig. 1.10: Banding of varices through EGD-scopy
  • Balloon tamponade is effective in stopping bleeding temporarily.
  • Combination of endoscopic treatment and vapreotide (somatostatin analog).
  • Nadolol and isosorbide mononitrate used in combination.
 
MANAGEMENT OF HEPATIC ENCEPHALOPATHY
  • Look for precipitating factors like bleeding, infection and electrolyte disturbance; and treat.
  • Cut down or stop proteins. Later with recovery give vegetable proteins only.
  • Stop diuretics.
  • Correct electrolytes.
  • Give IV glucose and repeat. Maintain intake/output chart.
  • As gut bacteria produce ammonia, give amoxicilline or metronidazole for ammoniagenic gut bacteria. Neomycin is not used because of renal toxicity. Rifaximin has a broad spectrum action in vitro and reduces overt hepatic encephalopathy. Rifaximin alpha 550 mg BD is recommended.
  • Treat GI bleeding fast.
  • Give oral lactulose enough to achieve 2–3 soft motions daily.
  • Colonic wash with lactulose or mannitol twice a day.
  • 10One may try bromocriptine, alphadopa, flumazenil, branched chain amino acids, which give variable results.
VIVA VOCE
Q1. Describe Cruveilhier-Baumgarten syndrome.
This occurs when there is severe portal hypertension in a case of cirrhosis liver with ascites, splenomegaly, dilated abdominal veins with flow of blood away from umbilicus.
Because of elevated portal pressure, paraumbilical veins which collapse at birth open up and one hears venous hum over these veins between umbilicus and liver. So presence of venous hum in liver cirrhosis with portal hypertension is Cruveilhier-Baumgarten syndrome.
Q2. Which features of liver decompensation indicate poor prognosis?
  • Hepatorenal syndrome
  • Hepatic encephalopathy
  • Elevated prothrombin time
  • Lower the serum albumin and higher the serum globulin, worse is the prognosis
  • Bleeding large varices carry bad prognosis
  • Presence of viral markers carry bad prognosis
  • Presence of hepatocellular carcinoma augur bad prognosis
  • Poor coagulation profile.
Q3. Describe mechanism of hepatic coma.
  • Ammonia is the key neurotoxin.
  • Mercaptans and phenolic compounds are other neurotoxins. Glutamate is the important excitatory neurotransmitter and it is depleted by ammonia.
  • Branched chain (essential) amino acids, e.g. valine, leucine and isoleucine get diminished leading to increased levels of aromatic amino acids which have adverse effects.
Q4. Describe the tests diagnostic of etiology of cirrhosis liver.
  • Positive autoantibodies serology (antinuclear antibody, antismooth muscle antibodies, antimitochondrial antibodies).
  • Hepatitis viruses serology positive.
  • Copper and ceruloplasmin: Copper overload.
  • Iron overload (ferritin and transferrin saturation elevated).
  • Elevated cholesterol in primary biliary cirrhosis.
  • Alpha1-antitrypsin deficiency.
Q5. What factors precipitate hepatic encephalopathy?
  • Gastrointestinal bleeding
  • High protein diet
  • Sedatives
  • Diuretics, electrolyte imbalance, hypokalemia
  • Any diagnostic procedure including ascitic tapping
  • Severe constipation, diarrhea, vomiting
  • Infection.
Q6. Describe various manifestations of alcoholic liver disease?
  • Fatty liver
  • Hepatitis
  • Alcoholic cirrhosis of liver
  • Hepatocellular carcinoma.
Q7. Describe causes of black stools.
  • Bleeding in upper GI tract
  • Ingestion of iron, charcoal, black berries, bismuth.
Q8. What leads to rapid worsening of ascites in a stable case of liver cirrhosis?
  • Alcohol consumption
  • GI bleed results in liver cell dysfunction
  • Electrolyte imbalance particularly hypokalemia
  • 11Septicemia, spontaneous bacterial peritonitis
  • Hepatocellular carcinoma
  • Hepatic venous thrombosis (Budd–Chiari syndrome).
Q9. What are the various manifestations of GI bleeding?
  • Hematemesis
  • Melena
  • Hematochezia.
Q10. Describe importance of Child-Pugh classification.
This is used to assess the prognosis in a case of chronic liver disease. The score is based on serum albumin, bilirubin levels, prothrombin time, severity of ascites and hepatic coma using 1–3 points. Point score differentiates patients into three classes A–C with A having a good prognosis and C having worse prognosis.
Q11. A case of alcoholic liver cirrhosis has altered mental status. What could be the causes?
  • Hepatic encephalopathy
  • Wernicke's encephalopathy.
Q12. What is the cause of low serum albumin in cirrhosis liver?
Albumin is synthesized only by liver cells and in cirrhosis, synthesis is impaired because of liver cell failure.
Q13. Describe important differential features of cirrhosis and biliary cirrhosis.
Parameters
Cirrhosis
Biliary cirrhosis
Sex
M>F
F>M
Prevalence
Common
Relatively uncommon
Jaundice
Mild
Deep
Ascites
Common
Rare
Hepatomegaly
None or mild
Marked
Splenomegaly
Significant
Mild or rare
Clubbing
Uncommon
Common
Itching
Uncommon
Common
Xanthomas
None
Common
Serum cholesterol
Usually normal
Elevated
Alkaline phosphatase
Normal
Elevated
Serum bilirubin
Normal
Raised
Q14. What are the poor prognostic features of cirrhosis liver?
  • Low sodium concentration <120 mmol/L (not caused by diuretic therapy)
  • Low serum albumin levels <2.5 mg/L
  • Encephalopathy
  • Prolonged prothrombin time.12
 
CASE 4: PRIMARY BILIARY CIRRHOSIS
 
INTRODUCTION
It is uncommon and presents typically with itching mostly in middle aged women. But in half of the cases, there may be no liver symptoms. Essentially there are four clinical types:
  1. Symptomless with abnormal liver function tests.
  2. Symptomless with normal liver function tests.
  3. Symptomatic—pruritus, lethargy prominent and time to death is 5–10 years.
  4. Decompensated biliary cirrhosis—presents with ascites, jaundice, hematemesis due to varices. The meantime to death is 3–5 years.
 
SALIENT CLINICAL FEATURES
 
Symptoms
  • Pruritus in 50% patients
  • Fatigue—most common complaint
  • Lethargy
  • Pain in right hypochondriac region (25% cases)
  • Features of liver cell dysfunction (20% cases): jaundice, ascites, hemoptysis.
  • Steatorrhea.
 
Signs
  • Pigmentation all over body
  • Clubbing
  • Icterus, scratch marks
  • Xanthelasma (mostly seen in chronic cases)
  • Xanthomas over joints, skin folds
  • Liver and spleen enlargement (noticed in initial stages of illness)
  • Look for proximal muscle weakness secondary to osteomalacia and for peripheral neuropathy.
 
INVESTIGATIONS
  • Complete blood count (CBC), liver function tests (elevated serum bilirubin and serum alkaline phosphatase levels).
  • Antimitochondrial antibodies are elevated. These are present in 96% patients, with the M2 antibody being more specific; it is negative in extrahepatic obstruction.
  • In presymptomatic stage, liver function tests are normal; however, cholestatic pattern (raised alkaline phosphatase, 5-nucleotidase and Y-glutamyltransferase) may be seen. Serum bilirubin is normal initially but rises as diseases progresses.
  • Lipid profile—elevated serum cholesterol.
  • Immunological tests: IgM and anti-IgG are elevated.
 
MANAGEMENT
 
Drugs to Treat Pruritus
  • Cholestyramine is the first line.
  • Rifampicin and ursodeoxycholic acid are second line drugs.
  • Naloxone and propofol are the third line agents.
 
Drugs to Treat Primary Biliary Cirrhosis
  • Ursodeoxycholic acid, corticosteroids, azathioprine, methotrexate and colchicines.
VIVA VOCE
Q1. Is there a cure for primary biliary cirrhosis?
Liver transplantation is the only known cure.
Q2. Describe secondary biliary cirrhosis.
When there is large bile duct obstruction and is usually caused by extrahepatic obstruction such as bile duct stricture, gallstones and sclerosing cholangitis.13
 
CASE 5: WILSON'S DISEASE
 
INTRODUCTION
  • It is an autosomal recessive metabolic disorder with failure to excrete copper in the bile at a rate essential to maintain zero balance of the copper level. History of consanguinity is present.
  • Since biliary excretion of copper is diminished, it accumulates in liver cells. Once liver cells are saturated with copper, it spills over in plasma and gets deposited preferentially in basal ganglia, cornea and kidney. Red blood cells are also affected causing hemolytic crisis.
 
SALIENT CLINICAL FEATURES
  • In a child or young adult, it may present with features of hepatitis, hemolytic anemia, portal hypertension and neuropsychiatric disorders.
  • Younger patients usually resent with cirrhosis of liver whereas older patients present with Parkinsonism and neuropsychiatric disorders.
  • Liver is enlarged with signs of liver cell failure.
  • Presence of Kayser–Fleischer rings(Fig. 1.11).
  • Jaundice and sunflower cataracts may be present.
  • Most important features are cirrhosis of liver, Parkinsonism (due to bilateral degeneration of basal ganglia), Kayser–Fleischer rings and hemolytic anemia.
  • Family history may be present.
 
INVESTIGATIONS
  • Free serum copper is elevated or normal or rarely low (Normal = 8–135 μg/dL) but serum ceruloplasmin is low (<20 mg/L) (Normal = 15–45 mg/dL).
    zoom view
    Fig. 1.11: A case of Wilson's disease showing Kayser–Fleischer rings
  • Urinary copper excretion is high, usually greater than 100 μg (Normal <30 μg/day).
  • Liver copper concentration is seen in liver biopsy and is increased by 50 μg/g of dry liver weight, while normal is less than 10 μg/g of dry liver weight.
 
TREATMENT
 
Use Copper Chelating Agents
  • Pencillamine which removes and detoxifies deposits of copper, treatment is lifelong and continuous, and pyridoxine is also given to minimize the side effects.
  • Those who do not tolerate penicillamine, trientine hydrochloride is another good alternative.
  • Tetrathiomolybdate with zinc salts is the treatment of choice in patients with neurological features.14
VIVA VOCE
Q1. Is Kayser–Fleischer ring pathognomonic of Wilson's disease?
No, because it is also seen in some cases of primary biliary cirrhosis, chronic active hepatitis with cirrhosis, cryptogenic cirrhosis.
Q2. Describe the clinical stages of Wilson's disease.
There are four clinical stages of Wilson's disease:
  1. Asymptomatic accumulation of copper in the liver which begins when the patient is born.
  2. Patient is either without symptoms or presents with hemolytic anemia or liver failure.
  3. Copper gets accumulated in brain.
  4. Progressive neurological disease.
Q3. Describe bony radiographic features of Wilson's disease.
  • Osteopenia (most evident in hands, feet and spine).
  • Arthropathy.
  • Articular abnormalities, subchondral bone fragmentation, cortical irregularities most commonly seen in wrist, hand, foot, hip and shoulder.
  • Osteomalacia and rickets have been documented.
  • Chondrocalcinosis is rare and is limited to the knees.15
 
CASE 6: HEPATOMEGALY
 
CAUSES OF LIVER ENLARGEMENT
 
Congestive
  • Congestive cardiac failure
  • Constrictive pericarditis, pericarditis with effusion
  • Budd–Chiari syndrome.
 
Cirrhosis Liver (Posthepatitis, Biliary)
 
Infective
  • Viral hepatitis (A, B, C, D, E viruses). Infectious mononucleosis
  • Bacterial (enteric, brucellosis, tuberculosis)
  • Protozoal (malaria, kala-azar, amebic, schistosomiasis)
  • Spirochetal (Weil's disease, syphilis)
  • Fungal (actinomycosis)
  • Parasitic (hydatid).
 
Blood Disorders
  • Leukemias, particularly chronic myeloid leukemia
  • Lymphomas (non-Hodgkin's, Hodgkin's)
  • Polycythemia vera
  • Myelofibrosis
  • Hemochromatosis
  • Chronic hemolytic anemia.
 
Toxic
  • Alcohol
  • Arsenic.
 
Infiltrative Diseases
  • Amyloidosis
  • Fatty liver
  • Glycogen storage disease
  • Gaucher's disease
  • Niemann–Pick disease.
 
Tumors
  • Hepatocellular carcinoma
  • Secondaries.
 
Granulomas
  • Tuberculosis
  • Sarcoidosis.
 
INVESTIGATIONS
  • USG: This will tell regarding fatty liver, nodular liver, any tumor or cyst in the liver
  • Liver function tests
  • Nuclear (Isotopic) liver scan
  • Liver biopsy.
VIVA VOCE
Q1. Enumerate causes of tender hepatomegaly.
  • Congestive (CCF, pericarditis with effusion, constrictive pericarditis)
  • Hepatitis (alcoholic, viral)
  • Amebic liver abscess
  • Hepatocellular carcinoma
  • Postnecrotic cirrhosis.
Q2. Tell the significance of hepatic friction rub.
It could be either due to gonococcal perihepatitis or liver cancer with infection of the liver or surrounding area. Combination of hepatic rub and bruit indicates liver cancer. Occasionally one may hear venous hum, rub and bruit which indicates that a case of liver cirrhosis has developed primary carcinoma of liver.16
 
CASE 7: SPLENOMEGALY
Normal spleen is not palpable. It has to be at least twice its normal size to be just palpable
  • Mild enlargement—just palpable spleen.
  • Moderate—when it is midway between left costal margin and umbilicus.
  • Severe—when it is enlarged up to umbilicus.
  • Gross—when it is enlarged beyond umbilicus (Fig. 1.12).
    zoom view
    Fig. 1.12: Grades of splenomegaly
 
CAUSES OF MILD SPLENIC ENLARGEMENT
Malaria, typhoid, infective endocarditis, tuberculosis, septicemia.
 
CAUSES OF MODERATE TO SEVERE SPLENIC ENLARGEMENT
Leukemias, Hodgkin's disease, lymphomas, polycythemia, hemochromatosis, hemolytic anemia, cirrhosis liver with portal hypertension, cysts and tumors.
 
CAUSES OF MASSIVE (GROSS) SPLENOMEGALY
Chronic malaria, chronic kala-azar, chronic myeloid leukemia, Felty's syndrome, myelofibrosis and extra-hepatic portal obstruction (splenic or portal vein occlusion).
VIVA VOCE
Q1. How do you treat Gaucher's disease?
The beneficial treatment is enzyme replacement therapy (Imiglucerase, Velaglucerase alfa, Taliglucerase alfa) or Glucosulceramide synthase inhibitor (Miglustat).17
 
CASE 8: FELTY'S SYNDROME
 
INTRODUCTION
It is a condition which occurs rarely in some cases of longstanding rheumatoid arthritis with leukopenia, neutropenia and splenomegaly. It occurs in middle to old age (50–70 years) and is more common in women than men. Patient has deformities but the disease is inactive. RA factor is positive.
 
SALIENT CLINICAL FEATURES
  • Patient has involvement of joints with deformities and there is history of loss of weight. Patient is febrile.
  • Splenomegaly (mild to moderate).
  • Lymph nodes are enlarged.
  • Pigmentation of skin, leg ulcers, rheumatoid nodules may be present.
  • Keratoconjunctivitis sicca may be seen.
  • Vasculitis and patient who has had recurrent infections particularly Gram positive infections.
 
INVESTIGATIONS
  • Blood—low hemoglobin, leukopenia with particularly neutropenia and thrombocytopenia. Liver function tests are deranged. Both T and B cell immunity is impaired.
  • Bone marrow is typically hyperplastic.
 
PROGNOSIS
The prognosis is poor due to recurrent Gram positive infections. In one-third of cases with Felty's syndrome in rheumatoid arthritis, the “large granular lymphocyte syndrome” which is premalignant condition of the T lymphocyte occurs. It must be stressed that splenectomy does not prevent sepsis and may even increase the onset of malignancy.
 
MANAGEMENT
  • Treatment of infections according to the culture and sensitivity report.
  • Treatment otherwise is symptomatic for fever and joint pains; physiotherapy for joint deformities.
VIVA VOCE
Q1. Describe hypersplenism.
It includes removal of any one or all the formed elements (erythrocytes, granulocytes and platelets) from the circulation by spleen. Splenectomy is considered when the underlying cause of hypersplenism cannot be corrected. The diagnosis of hypersplenism is considered (1) when there is splenomegaly, (2) when one or more types of cells are destroyed in spleen and (3) bone marrow is normal.
Q2. Describe indications for splenectomy.
  • To treat hypersplenism in Gaucher's disease, hairy cell leukemia, thalassemia.
  • Hereditary spherocytosis in children.
  • When autoimmune thrombocytopenia or hemolytic anemia is not controlled by corticosteroids.
  • Huge splenic abscess.
Q3. Following splenectomy, what cells appear in peripheral blood?
Howell Jolly bodies, siderocytes and spur cells.
Q4. What advice would you give to an asplenic patient?
  • Pneumococcal vaccination.
  • Meningococcal groups A and C vaccination.
  • Prophylaxis with antibiotics amoxicillin.
  • Antimalarial prophylaxis if patient is traveling to malaria infested zones.18
 
CASE 9: HEPATOSPLENOMEGALY
 
INTRODUCTION
  • Causes of hepatosplenomegaly are more or less same as those of hepatomegaly.
  • Keeping in mind the causes, physician should ask during history taking to ascertain the etiological cause. In addition to enquire for any investigation or treatment taken.
 
PHYSICAL EXAMINATION
  • One must examine abdomen to know the degree of enlargement of liver measuring for right lobe in right midclavicular line below right costal margin and for left lobe in midsternal line below xiphoid process. Feel for consistency, nodularity and tenderness of liver surface. Similarly, look for degree of enlargement of spleen whether it is mild (just palpable), moderate (midway between left costal margin and umbilicus), severe (up to umbilicus), gross (beyond umbilicus).
  • For mild splenomegaly, patient is examined in right lateral position while physician palpates bimanually with left hand kept over left lower cage posterolaterally and feel the tip of the spleen with right hand fingers pointing toward left costal margin. Ask patient to breath slowly and deeply. In deep inspiration, the tip of the spleen is felt with fingers of right hand. In moderate and severe splenomegaly, feel for notch, consistency and tenderness.
  • Hooking method: Here patient lies in right lateral position and physician stands on left side behind the patient and hooks fingers of hands under left costal margin to feel spleen in deep inspiration. This method is particularly useful in obese persons. In hepatomegaly case, one has to do general examination to find out the cause.
    • Jaundice (infective hepatitis, cirrhosis of liver, hemolytic anemia).
    • Anemia (thalassemia, hemolytic anemia, cirrhosis liver).
    • Palmar erythema, spider nevi (liver cirrhosis).
    • Lymphadenopathy (lymphatic leukemia, lymphoma).
    • Plethora (polycythemia).
    • Kayser–Fleischer rings with tremors of hands (Wilson's disease).
    • Bone tenderness—chronic myeloid leukemia.
    • Petechiae (acute leukemia, infective endocarditis).
    • Butterfly rash over cheeks (SLE).
 
INVESTIGATIONS
These give clue to the diagnosis:
  • CBC: Mild to moderate increase in WBC (infections), very high leukocyte count (leukemia):
    • Leukopenia: Malaria, typhoid, infectious mononucleosis
    • Reticulocytosis: Hemolytic anemia
    • Pancytopenia: Hypersplenism.
  • Widal test and blood culture—to confirm typhoid fever.
  • Peripheral smear—malarial parasite, spherocytosis, Leishmania donovani bodies.
  • Bone marrow examination—to rule out leukemias and lymphomas.
  • CT scan of chest and abdomen for lymph nodes.
  • USG of abdomen for knowing size of liver and spleen, lymphadenopathy and presence of ascites.
  • Lymph node biopsy [neck, axilla or even abdomen and chest (CT guided)].
  • Liver biopsy to confirm liver cirrhosis or hepatocellular carcinoma.
  • Splenic puncture for kala-azar, malaria.
  • Mantoux test or TB gold test for tuberculosis.
  • X-ray skull to look for “hair on end” appearance to confirm thalassemia.
  • X-ray chest to know about mediastinal lymph nodes, pulmonary tuberculosis.19
VIVA VOCE
Q1. Describe Banti's syndrome.
There is moderate to severe size enlargement of spleen and portal hypertension.
Spleen is enlarged because of abnormal portal blood flow. This occurs in hepatic vein obstruction, portal vein obstruction, splenic vein obstruction, schistosomiasis or echinococcosis of liver.
Q2. Enumerate causes of displaced liver (palpable but not enlarged).
  • Emphysema with depressed diaphragm.
  • Thin body with narrow thoracic cage.
  • Right-sided pleural effusion.
  • Palpable Riedel's lobe.
Q3. In which conditions liver is pulsatile?
When there is tricuspid regurgitation.
Q4. In which conditions, hepatic arterial bruit can be heard?
  • Alcoholic hepatitis.
  • Primary carcinoma and metastatic carcinoma of liver.
Q5. In which condition abdominal venous hum is heard?
When there is portal hypertension in cirrhosis liver, then one hears venous hum along with hepatic arterial bruit, it indicates presence of cirrhosis liver with portal hypertension along with either cancer or alcoholic hepatitis.
Q6. Enumerate causes of liver arterial bruit.
  • Carcinoma liver (primary or secondary).
  • Alcoholic hepatitis.
Q7. Tell the cause of hepatic friction rub.
  • Gonococcal perihepatitis in young person.
  • Hepatic tumor with inflammatory changes.20
 
CASE 10: ASCITES
 
INTRODUCTION
It is a pathological accumulation of fluid in the peritoneal cavity. It should be differentiated from other causes of distention of abdomen, e.g. fat, fluid, flatus, fetus, feces (5Fs for distention of abdomen).
 
CAUSES OF ASCITES
  • Cirrhosis of liver with portal hypertension.
  • Congestive cardiac failure.
  • Nephrotic syndrome.
  • Pericardial effusion, constrictive pericarditis.
  • Hypoproteinemia.
  • Meig's syndrome.
  • Epidemic dropsy.
  • Tuberculous peritonitis.
  • Budd–Chiari syndrome (hepatic vein thrombosis).
  • Intra-abdominal malignancy.
 
SALIENT CLINICAL FEATURES
 
Symptoms
  • Abdominal distension, dyspnea.
  • History of liver disease, kidney disease, heart disease.
  • History of tuberculosis causing TB peritonitis.
  • Malignancy history, metastatic spread to abdomen.
 
Signs
  • Abdomen distended, full flanks, umbilicus everted or transversally slit (smiling umbilicus) (Figs 1.13 and 1.14)
  • There may be presence of distended veins either paraumbilical due to pressure over inferior vena cava with flow of blood from below upward or veins may be periumbilical (caput medusae) with flow of blood away from umbilicus (intrahepatic portal hypertension like in cirrhosis of liver) (Fig. 1.15).
    zoom view
    Fig. 1.13: Ascites
    zoom view
    Fig. 1.14: A patient of ascites with everted umbilicus
  • Fluid thrill and shifting dullness can be elicited; there is horse-shoe shaped dullness.
  • Pitting edema over legs, sacral edema in a bed ridden patient.21
    zoom view
    Fig. 1.15: A case of ascites. The distance between xiphisternum and umbilicus is more than the distance between umbilicus and pubic symphysis
 
INVESTIGATIONS
  • Blood: CBC, ESR, liver and kidney function tests, serum proteins particularly serum albumin levels for hypoalbuminemia.
  • Urine for albuminuria, 24 hours urinary albumin.
  • USG abdomen for confirmation of free fluid, liver and spleen enlargement, kidneys’ size, echo structure to rule out medical kidney disease, any tumor of kidneys, polycystic kidneys.
  • Diagnostic ascitic tap: Examination of fluid whether transudate or exudate (if lymphocytic exudate, it confirms tuberculous peritonitis), look for malignant cells.
  • Ultrasound guided liver biopsy to confirm cirrhosis or fine needle aspiration cytology of lymph nodes.
  • CT abdomen for better visualization of tumors, lymph glands.
  • CT guided biopsy of peritoneum, laparoscopic biopsy of lymph nodes.
 
PRINCIPLES OF TREATMENT
  • Bed rest.
  • Diet: Low salt, high protein diet, restricted fluid intake (1 liter in 24 hours).
  • Diuretics (furosemide and spironolactone).
  • In massive ascites, one can remove large amounts of fluid (3–5 liters) in one sitting and infusion of salt free albumen (6–8 g/L).
  • Peritoneovenous shunt (Leveen shunt) in refractory massive ascites in which ascitic fluid is drained directly into internal jugular vein.
  • Transjugular intrahepatic portosystemic stent shunting (TIPS) useful in refractory ascites in cirrhosis liver. TIPS is a side to side shunt consisting of a stented channel between a main branch of portal vein and the hepatic vein. The stent shunt has very little operative mortality compared with surgical shunts.
  • Extracorporeal ultrafiltration of ascitic fluid with reinfusion.
  • Liver transplantation.
VIVA VOCE
Q1. Describe mechanisms of ascites formation in cirrhosis.
  • It is caused by a combination of portal hypertension and liver cell failure causing decrease in renal blood flow leading to retention of salt and water.
  • Secondary hyperaldosteronism as a result of increased renin release and decreased metabolism of aldosterone by the liver.
  • Decreased metabolism of antidiuretic hormone (ADH).
  • Hypoalbuminemia, which reduces colloid oncotic pressure.
  • Lymphatic obstruction resulting in weeping liver (lymphorrhea).
  • Overproduction of nitric oxide (NO) is proposed to be important in the pathogenesis of ascites, sodium and water retention, and hemodynamic abnormalities in cirrhosis liver.
Q2. Explain the importance of serum: ascites albumin gradient.
It is calculated by subtracting the ascitic fluid albumin concentration from the serum albumin concentration in the samples obtained at the same time. This gradient correlates directly with portal pressure, those whose gradient is greater than or equal to 11 g/L have 22portal hypertension and those with gradients less than 11 g/L do not. The accuracy of this gradient is 97%.
Q3. What are the complications of ascites?
  • Respiratory embarrassment in gross ascites.
  • Spontaneous bacterial peritonitis in cirrhosis of liver. Suspect when ascitic fluid WBC count of 500 × 106 cells/L or polymorphonuclear cell count greater than 250 × 106 cells/L. One should use empirical therapy with a non-nephrotoxic broad spectrum antibiotic.
Q4. Describe pathogenesis of ascites in cirrhotics.
There are two postulations proposed:
  • Under filling postulation: In this primary abnormality is inappropriate sequestration of fluid within the splanchnic vascular bed caused by portal hypertension leading to decrease in intravascular volume. The kidney responds by retaining salt and water.
  • Overflow postulation: Here primary abnormality is inappropriate retention of salt and water by the kidney in the absence of volume depletion.23
 
CASE 11: JAUNDICE
 
INTRODUCTION
In jaundice, there is yellowish discoloration of skin, sclera and mucous membrane due to accumulation of bile pigments. Scleral icterus indicates that serum bilirubin is at least 30 mg/L.
 
CLASSIFICATION
  1. Hepatocellular: This occurs due to hepatitis caused by hepatitis viruses A, B, C, D, E or G, spirochetal infection (Weil's disease), alcohol, hepatotoxic drugs or cirrhosis of liver. There is impaired bilirubin metabolism and transportation due to liver cell damage. Liver function tests are abnormal. Clinical features will vary according to the underlying cause. For Weil's disease enquire about occupation (sewage and farm workers).
  2. Hemolytic jaundice: Because of excessive hemolysis, there is an increased serum level of unconjugated bilirubin, which is not water-soluble; hence it does not pass into urine. Urinary urobilinogen is elevated. Serum bilirubin is 4–6 mg/dL. Serum alkaline phosphatase serum albumin and liver enzymes [SGOT, SGPT, γ-glutamyl transferase (γ GT)] are normal. The causes of hemolytic jaundice are the same as the causes of hemolytic anemia.
  3. Cholestatic (Obstructive) jaundice: Obstruction can be extrahepatic (bile duct obstruction) or intrahepatic (cholestasis in bile canaliculi):
    1. Extrahepatic obstruction:
      • Biliary duct stones
      • Stricture of bile duct
      • Tumors of biliary tract
      • Carcinoma head of pancreas
      • Pancreatitis
    2. Intrahepatic obstruction (some causes are similar to hepatocellular jaundice):
      • Viral hepatitis
      • Alcoholic hepatitis
      • Cirrhosis of liver
      • Drug induced hepatitis
      • Primary biliary cirrhosis
      • Cholestasis of pregnancy
  4. Rarely congenital hyperbilirubinemias:
    1. Unconjugated hyperbilirubinemia
      • Gilbert's syndrome: It is an autosomal dominant disorder and is the most common type. There are no symptoms and is detected during routine health checkup when unconjugated serum bilirubin is elevated (2–4 mg/dL). Other liver functions are normal. Reassure the patient that it is a benign condition and no treatment is required.
      • Crigler–Najjar syndrome: Two types of this condition are described:
        • Type I (autosomal recessive) in which there is total absence of glucuronyl transferase resulting in indirect bilirubin greater than 20 mg/dL. This is usually seen in neonates who develop kernicterus and is a fatal condition.
        • Type II (autosomal dominant) in which glucuronyl transferase is reduced and indirect bilirubin is 8–20 mg/dL, kernicterus is rare and the child lives up to adulthood. It is treated by oral phenobarbitone and UV rays and in some cases by liver transplant.
    2. Conjugated hyperbilirubinemias:
      • Dubin–Johnson syndrome (autosomal recessive)
      • Rotor syndrome (autosomal dominant).
In both these conditions there is a defect in canalicular transport of bilirubin. In Dubin–Johnson syndrome, serum bilirubin is high up to 25 mg/dL whereas in Rotor syndrome, serum bilirubin is less than 10 mg/dL. In both, 24prognosis is good and usually no treatment is required. Both may be present at any age.
 
SALIENT CLINICAL FEATURES
  1. Hepatocellular jaundice:
    • Early stages, mild jaundice; late stages, deep jaundice
    • Fever in initial phases indicating hepatitis, cholangitis
    • Features of cirrhosis liver (particularly alcoholic), e.g. palmar erythema, spider nevi, gynecomastia, loss of axillary hair, testicular atrophy, Dupuytren's contracture
    • Kayser–Fleischer (KF) rings (Wilson's disease)
    • Elevated liver enzymes (SGOT, SGPT, γ GT) and total bilirubin
  2. Hemolytic jaundice:
    • Pallor
    • Lemon yellow color icterus (skin, sclera)
    • Enlarged spleen
    • Leg ulcers and gall stones in chronic cases
    • Frontal bossing, prominent cheek bones seen in thalassemia major and sickle cell disease
    • Blood: Elevated indirect bilirubin but normal alkaline phosphatase, positive Coomb'stest (autoimmune hemolytic anemia)
    • Urine: Urobilinogen++, bilirubin and bile salts absent
  3. Obstructive jaundice:
    • Deep yellow or greenish yellow color of icterus (due to presence of biliverdin). Deep yellow urine and pale stools
    • Scratch marks over skin due to pruritus
    • Fever, rigors and abdominal pain indicates cholangitis
    • Ecchymoses
    • Sinus bradycardia in severe cases
    • Xanthelasma, xanthomas
    • Vitamin A deficiency (Bitot's spots over sclera)
    • Thrombophlebitis due to carcinoma pancreas causing obstructive jaundice
    • Clubbing of nails, arcus senilis, if primary biliary cirrhosis is the cause
    • Blood: Elevated direct bilirubin and elevated alkaline phosphatase
    • Urine: Bilirubin+, bile salts+, urobilinogen absent.
 
Abdomen Examination
  • Abdomen may show generalized distension with flanks full due to ascites or may have localized bulging in right hypochondriac and epigastric region due to hepatoma or hepatomegaly (postnecrotic cirrhosis, hepatocellular carcinoma)
  • Splenomegaly due to portal hypertension in cirrhosis liver or hemolytic anemia
  • Lump in epigastric region due to enlarged left lobe of liver, carcinoma stomach, biliary tract malignancy
  • Gallbladder may be enlarged and palpable indicating extrahepatic obstruction (Courvoisier's law). Murphy's sign may be positive in acute cholecystitis. Look for surgical scar of previous cholecystectomy
  • Per rectal examination for hemorrhoids in cirrhosis liver.
 
INVESTIGATIONS
  • USG abdomen to detect enlarged liver, spleen, gallbladder, pancreatic tumor, ascites
  • Spiral CT and MRI to be employed for more details
  • Magnetic resonance cholangiopancreatography
  • Endoscopic retrograde cholangiopancreatography (ERCP) for bile duct stone, tumor
  • For detecting esophageal varices and carcinoma stomach upper GI endoscopy
  • CBC, reticulocyte count, Coomb'stest, serum haptoglobins
  • Urine for urobilinogen, bilirubin, bile salts
  • Liver function tests including prothrombin time
  • Viral studies A, B, C, D, E and G. Epstein–Barr virus antibodies and mitochondrial antibodies.25
VIVA VOCE
Q1. Give the differential points between jaundice and carotenemia.
In carotenemia, one sees the yellow brown pigmentation of carotenoid pigment in the palms, soles and nasolabial folds but there is no yellow color of sclera, mucous membrane and urine.
Q2. Describe Murphy's sign.
Press with your left thumb over tip of ninth costal cartilage (midpoint of right costal margin), and ask the patient to take a deep breath, in a case of acute cholecystitis, you can elicit tenderness and that is a positive Murphy's sign.
Q3. Describe Charcot's fever triad.
In a patient with cholangitis and biliary obstruction patient gets intermittent fever accompanied with jaundice and abdominal pain.
Q4. Describe Courvoisier's law.
According to this law in a patient with obstructive jaundice a palpable gallbladder is unlikely to be caused by chronic cholecystitis.26
 
CASE 12: NONCIRRHOTIC PORTAL FIBROSIS (NCPF)
 
PREVALENCE
In India, its prevalence is high accounting for 16–20% of patients with portal hypertension, whereas worldwide prevalence is 3–5%.
 
ETIOPATHOLOGY
It affects persons with poor socioeconomic status. The causes are:
  • Infection: Recurrent bacterial infection of gut with repeated septic embolization into the portal circulation.
  • Familial predisposition—immunological: There is alteration of T4/T8 lymphocytic ratio, hypergammaglobulinemia and granulocytopenia.
  • Toxins:
    • Consumption of high arsenic containing drinking water, vegetables and ayurvedic drugs
    • Exposure to vinyl chloride in India
    • Some ayurvedic drugs and herbal toxins are a possibility as the etiological causes in our country.
 
SALIENT CLINICAL FEATURES
  • The disease affects around 30–40 years of age. The main presentation are hematemesis, melena or lump in left hypochondriac region (splenomegaly) due to elevated portal pressure seen in around 90% of cases
  • Mild liver enlargement (approximately 50% of patients)
  • Features of liver cell failure like jaundice, ascites and encephalopathy are uncommon
  • Spleen enlargement of varying size (mild to gross) seen in all patients.
 
INVESTIGATIONS
  • Blood: CBC to assess severity of anemia which can be as a result of bleeding and hypersplenism
  • Liver function tests: Invariably LFT are normal or there may be mild derangement
  • To detect esophageal varices (present in 90%) and rectal varices (not piles) present in 70%, EGD-scopy and proctoscopy are done
  • USG abdomen: For liver and spleen. Liver is normal in size and architecture (intrahepatic portal veins are regular unlike irregular and distorted as seen in cirrhosis liver). Spleen is enlarged (variable size). One may see dilated splenic and portal veins
  • CT abdomen may be more useful to visualize dilated splenic and portal veins.
  • Splenoportovenography: This is rarely done these days but earlier when new noninvasive techniques were not available, it used to be done to visualize splenic, portal veins and medium size portal venous channels.
 
MANAGEMENT
It is mainly to control bleeding from esophageal varices. Control bleeding by vasopressin, Sengstaken–Blakemore tube balloon compression. For acute bleed, it is preferable to use variceal band ligation.
VIVA VOCE
Q1. Describe differential diagnosis of NCPF.
Tropical splenomegaly syndrome that occurs in cases of chronic malaria due to exaggerated immune response to malarial antigens. IgM antibody levels are elevated and there is no portal hypertension. Liver histopathology reveals Kupffer cell hyperplasia with lymphocytes in liver sinusoids. It is treated by antimalarial drugs.27
 
CASE 13: TUBERCULOSIS OF ABDOMEN
 
INTRODUCTION
Prevalence of tuberculosis in general and also tuberculosis of abdomen has increased with HIV infection. Tuberculosis of abdomen may present without pulmonary tuberculosis. Broadly it presents in three forms: (1) Intestinal, (2) Peritoneal and (3) Glandular.
 
Intestinal Tuberculosis
  • Ileocecal region is most commonly involved. Next in frequency are jejunum and colon
  • Majority (70%) are primary without pulmonary tuberculosis
  • Hematogenous or lymphatic spread affects the intestines
  • Tuberculous endarteritis in the submucous region causes intestinal ulcers. With treatment, ulcers may heal completely. However, in others it may heal with fibrosis leading to stricture formation resulting in subacute intestinal obstruction. In some, ulcers heal with hypertrophy of the mucosa at edges of the ulcer. Hence the sequelae of intestinal tuberculosis may result in ulcerative-hypertrophic or ulcero-hypertrophic type of lesions. The ulcers are transverse.
 
SALIENT CLINICAL FEATURES
 
Symptoms
  • Pain in abdomen
  • Loss of appetite, loss of weight
  • Low grade evening fever
  • Nausea, vomiting, loose motions and sometimes constipation
  • Gaseous distension of abdomen
  • In late stages, patient may present with subacute intestinal obstruction with colicky crampy pain in abdomen, vomiting, distention and constipation
  • In women perhaps because of endometrial tuberculosis, amenorrhea may be the complaint.
 
Signs
  • Patient looks emaciated, sick, febrile
  • Abdomen is scaphoid. The abdomen on palpation has firm (doughy) feel due to peritoneal involvement and there is diffuse tenderness particularly in ileocecal region with some lumpy feeling
  • When there is subacute intestinal obstruction there is distension with visible peristalsis (step ladder pattern). On auscultation of abdomen, one can hear loud intestinal sounds.
 
Peritoneal Tuberculosis
The patient usually presents with ascites. It can also be a part of generalized tuberculous abdomen, involving intestines, glands and peritoneum giving a doughy feel of the abdomen but no ascites.
 
Glandular Tuberculosis
Abdominal gland enlargement can be a part of generalized lymphadenopathy or the gland's enlargement may be a part of tuberculosis of abdomen along with intestinal and peritoneal involvement.
 
INVESTIGATIONS IN A CASE OF TB ABDOMEN
  • Blood: CBC for severity of anemia and ESR, which is elevated
  • Mantoux test or Gold TB test usually positive
  • Plain X-ray abdomen in standing position may show air fluid levels when subacute intestinal obstruction is confirmed
  • Barium meal follow through till ileocecal region or small bowel barium enema may show ulcers, strictures with proximally dilated loops. Observe ileocecal region carefully, one may see long narrowed segment of terminal ileum (Stierlin's sign) with thickening of ileocecal region and short ascending colon (Fig. 1.16)28
    zoom view
    Fig. 1.16: Barium meal follow through showing narrowed segment of terminal ileum in ileocecal tuberculosis
  • CT scan abdomen will reveal lumps and lymph nodes much better than USG abdomen
  • Colonoscopy: The scope should go up to ileocecal region and take biopsy of any colonic lesion and ileocecal region
  • Peritoneoscopy or laparoscopy to visualize and take a biopsy of peritoneum, lymph node.
 
DIAGNOSIS
Diagnosis is confirmed by symptoms, signs and investigations mentioned above. One should rule out other conditions given below, which are considered in differential diagnosis.
  • Crohn's disease
  • Appendicular mass
  • Ameboma
  • Actinomycosis of cecum
  • Lymphoma
  • Carcinoma of colon.
 
MANAGEMENT
  • Antituberculous treatment is the main stay of the treatment
  • High protein, high calorie diet
  • Surgery in situations of intestinal obstruction, perforation and rare complication of hemorrhage.29
 
CASE 14: CROHN'S DISEASE
 
SALIENT CLINICAL FEATURES
 
Symptoms
  • Pain in abdomen and loose motions often
  • Nausea, malaise, loss of appetite and loss of weight
  • Pain and inflammation around anus
  • Systemic complaints, pain in joints, skin and mucosal changes, eye complaints like redness of eyes.
 
Signs
  • Swollen lips, aphthous ulcers
  • Signs of conjunctivitis, uveitis
  • Mass and tenderness in right iliac fossa, in some there may be fistulous openings in right iliac fossa. Crohn's disease may involve any part of GI tract but terminal part of ileum and ascending colon are commonly involved (Fig. 1.17), hence it has to be differential from ileal-cecal tuberculosis
  • Tenderness in joints
  • Skin may show erythema nodosum, pyoderma gangrenosa.
 
INVESTIGATIONS
  • Blood: CBC, ESR, CRP, liver function tests, investigations for cause of anemia such as iron studies, vitamin B12 and folate levels.
  • Barium meal follow through will show multiple nodular cobble stone like appearance and ulceration (Fig. 1.18).
    zoom view
    Fig. 1.17: Crohn's disease involving terminal part of ileum and ascending colon (common sites)
    zoom view
    Fig. 1.18: Barium meal follow through showing multiple nodular cobble stone like appearance and ulceration in Crohn's disease
  • 30Sigmoidoscopy, colonoscopy and rectal/colon biopsy
  • MRI of small bowel to assess disease activity and MRI of pelvis for diagnosis of fistula. CT with IV and or oral contrast may show differential visualization of layers of small intestine.
 
COMPLICATIONS
  • Toxic megacolon
  • Arthritis (pain, tenderness and swelling of joints)
  • Acute anterior uveitis (common), keratoconjunctivitis, choroiditis, optic neuritis (rarely seen)
  • Pyoderma gangrenosa, erythema nodosum
  • Look for associated diseases like ankylosing spondylitis, hepatitis and cirrhosis liver.
 
MANAGEMENT
  • For ileal involvement—administer steroids orally
  • For colonic involvement—administer sulphasalazine, alternatively steroids are given rectally
  • Metronidazole is given to patients having peritoneal disease and fistulae
  • In severe cases one may use azathioprine. Combining infliximab with azathioprine or infliximab alone have given better results in steroid-free clinical remission than azathioprine alone
  • Surgery may be required in advanced cases with intestinal fistulae or intestinal obstruction unresponsive to above medical regimen.
VIVA VOCE
Q1. What are the differential radiological points on barium meal follow through between ileocecal tuberculosis and Crohn's disease?
In ileocecal tuberculosis ulcers are typically transverse whereas in Crohn's disease, the ulcers are longitudinal and transverse. Hence in barium meal follow through in Crohn's disease one would see thickened folds, ulcerations and edema. Multiple cobble stone like appearance is seen because of longitudinal and transverse ulcerations in ileum. In ileocecal tuberculosis, one would notice narrowing of terminal ileum with proximal dilatation, marked narrowing and contraction of cecum and ascending colon.31
 
CASE 15: ULCERATIVE COLITIS
 
PATHOPHYSIOLOGY
It is postulated that ulcerative colitis develops because of an abnormal host response to an environmental trigger in a genetically susceptible persons. This results in inflammation of the colon and there is release of inflammatory mediators like TNF-alpha-1, IL-2 and IL-23 which damage the intestinal tissue.
In ulcerative colitis initially rectum is always involved (proctitis) and then it spreads to sigmoid colon (proctosigmoiditis) (Fig. 1.19), and in some the whole colon (pancolitis) is involved. However, the inflammation is limited to mucous layer and usually spares the deeper layers of bowel wall.
 
SALIENT CLINICAL FEATURES
The chief complaint is bloody diarrhea. Usually the first time presentation is severe and later with relapses, severity becomes less. The disease course has relapses and remissions.
The precipitating factors are emotional stress, undercurrent infections. Sometimes antibiotics and NSAID therapy can precipitate a prolapse.
Because of proctitis, patient gets mucus discharge along with bleeding, accompanied with tenderness. Whereas some patients complain of watery stools with mucus, others present with constipation. Proctosigmoiditis usually presents with bloody diarrhea with mucus. Patients may have low grade fever, pain in abdomen.
zoom view
Fig. 1.19: Ulcerative colitis showing proctitis and proctosigmoiditis (common sites)
In severe cases patient may have anorexia, malaise, loss of weight and may look toxic with high fever, tachycardia and in few cases features of peritonitis.
Ulcerative colitis and Crohn's disease with HLA-B27 commonly develop ankylosing spondylitis.
 
INVESTIGATIONS
  • CBC to know Hb% and assess severity of bleeding and malabsorption of iron, B12 and folic acid
  • ESR and CRP elevated more during exacerbations
  • Routine and culture of stool to know about bacterial, parasite infection
  • Endoscopy and colonic biopsy. In ulcerative colitis sigmoidoscopy is invariably abnormal. In ulcerative colitis, naked eye and histological abnormalities are mostly seen in descending colon, sigmoid and rectum
  • Radiology—barium enema is not much used nowadays as colonoscopy gives better information and one can take colonic biopsy. However, barium enema will show loss of haustrations of colon and ulcerations, which are typical of ulcerative colitis (Fig. 1.20).
 
COMPLICATIONS
  • Very severe colonic inflammation: This is seen in both ulcerative colitis and Crohn's disease. In life threatening case, the colon dilates (toxin mega colon) (Fig. 1.21) with the result that bacterial toxins pass freely through diseased mucosa into the systemic and portal circulation.32
    zoom view
    Fig. 1.20: Barium enema in ulcerative colitis showing loss of haustrations and ulcerations in colon
    zoom view
    Fig. 1.21: Barium enema (double contrast) in a case of ulcerative colitis showing toxic mega colon
    Plain X-ray abdomen should be taken daily to monitor progress of colonic dilatation as there is a risk of perforation.
  • Bleeding in colon: It is due to erosion of major artery and is seen in both Crohn's disease and ulcerative colitis, luckily this complication is rare.
  • Fistula formation: These are more common in Crohn's disease than ulcerative colitis. One may see enterovesical or enterovaginal fistulae. Perianal and ischiorectal abscesses, fissures and fistula are seen more commonly.
 
Cancer
In inflammatory bowel disease of long duration more so in ulcerative colitis, there is risk of cancer. Patients should be followed periodically with repeated colonoscopy to detect dysplasia of mucosa in early stages to plan pancolectomy to prevent occurrence of colon cancer.
 
Systemic Complications of Inflammatory Bowel Disease (Ulcerative Colitis and Crohn's Disease)
  • Uveitis, conjunctivitis, iritis, aphthous ulcers
  • Liver abscesses
  • Portal vein thrombosis
  • Venous thrombosis
  • Arthralgia
  • Erythema nodosum
  • Pyoderma gangrenosa
  • Sacroilitis
  • Primary sclerosing cholangitis
  • Autoimmune hepatitis
  • Metabolic bone disease.
 
MANAGEMENT
Both inflammatory diseases, ulcerative colitis and Crohn's disease remain lifelong with patient.
 
Ulcerative Colitis
 
Active Proctitis
As first line therapy, mesalazine enema or suppositories along with oral mesalazine are effective. If mesalazine locally does not give desired effect, one should use topical corticosteroids as retention enema. If no response, oral prednisolone 40 mg daily is administered and gradually tapered to maintenance dose.33
 
Active Left Sided Extensive Ulcerative Colitis
In mildly active disease, oral aminosalicylates along with topical aminosalicylates and corticosteroids are helpful. For more active disease 40 mg prednisolone is indicated.
 
Severe Ulcerative Colitis
They are best managed in hospital where pulse, BP, stool frequency and blood, Hb%, WBC, serum electrolytes and ESR, CRP are monitored.
  • Intravenous fluids to correct dehydration with nutritional support.
  • Intravenous methylprednisolone 60 mg or IV hydrocortisone 400 mg/day are given as continuous infusion. Oral and topical aminosalicylates should also be used.
  • If response to corticosteroids is not satisfactory, one should use IV cyclosporin or infliximab, which can delay the need of urgent colectomy in one-third cases. Patients who do not respond to above medical treatment should be referred to surgeon for colectomy.
  • Blood transfusion, if Hb is low.
  • Thiopurines (azathioprine, 6-mercaptopurine) are used in cases when they get relapses despite aminosalicylate drugs.
 
Maintenance of Remission
Since ulcerative colitis has relapses and remissions, one has to advise long-term treatment to prevent relapse. Oral aminosalicylates either mesalazine or balsalazide are the preferred drugs. Sulfasalazine has more side effects but in patients with associated arthritis, one may consider sulfasalazine.
34
 
CASE 16: AMEBIC LIVER ABSCESS
 
INTRODUCTION
It is the most common extra GI form of amebic infection. It is much more common in men (M:F = 10:1) perhaps because of alcohol abuse.
 
SALIENT CLINICAL FEATURES
 
Symptoms
  • Presenting complaints are high fever with pain in right hypochondriac region or epigastric region (left lobe abscess). Pain radiates to tip of right shoulder. Inquire about past history of amebiasis or present history of loose motions with mucus or blood in stools.
  • In large or multiple abscesses patient may develop jaundice.
 
Signs
  • Patient looks sick, a bit toxic, febrile, and uncomfortable due to pain in liver area. Liver is enlarged and tender, upper border of liver dullness is shifted upwards. Putting pressure over intercostal spaces of right lower chest or a thump over right lower cage will cause pain; for comparison, one should give a thump with fist on left side also to observe the difference.
 
INVESTIGATIONS
  • Blood: CBC will show polymorphonuclear leukocytosis
  • X-ray chest will show elevation of right leaf of diaphragm and blunting of right costophrenic angle
  • Stool examination may show Entamoeba histolytica cysts or trophozoites
  • USG abdomen will assess site, size and number of abscesses
  • CT scan abdomen to be done, if USG is not clear (Fig. 1.22)
  • CT or USG guided aspiration of abscess is done. The pus is typically chocolate colored (anchovy sauce) thick pus.
    zoom view
    Fig. 1.22: CT scan of abdomen showing amebic liver abscess (arrows pointing to amebic liver abscess)
    One may 35occasionally find trophozoites of Entamoeba in the pus. Usually they lie in wall of abscess cavity and not found in pus.
  • Serology: Indirect hemagglutination (IHA) test has now been replaced by ELISA test or indirect fluorescence antibody test. Serological tests are positive in 90% of cases.
 
COMPLICATIONS
  • Rupture of abscess into adjacent structures like pleura, pericardium, peritoneum, lungs
  • Secondary bacterial infection.
 
MANAGEMENT
  • Oral metronidazole 400 mg tds or IV metronidazole 60 mg tds for 7–10 days followed by luminal amebicide (diloxanide furoate 500 mg tds for 7 days). Emetine is not used these days. Alternately tablet chloroquine 300 mg daily for 2 days followed by 150 mg daily for 19 days.
  • In large abscesses, in addition to medical treatment, aspiration of abscess through wide bore needle or sometimes surgical drainage may be required.36
 
CASE 17: HEMOCHROMATOSIS
 
INTRODUCTION
Iron absorption is mediated by the duodenal metal transporter DMT-1. It is suggested that this increased expression of RNA for NRAMP-2 in the duodenal mucosa of patients with hereditary hemochromatosis may promote duodenal uptake of iron and result in iron overload.
 
SALIENT CLINICAL FEATURES
  • It is familial disease. Patient may present with features of cirrhosis liver
  • Tanning of skin is important presenting feature
  • Patient develops diabetes mellitus due to iron deposition in pancreas
  • Hematemesis, melena in some cases
  • Fifty percent of patients develop arthropathy like pseudogout which affects the 2nd and 3rd metacarpophalangeal joints.
  • Pigmentation all over body usually in a male young patient
  • Palmar erythema, spider naïve due to cirrhosis liver
  • Icterus
  • Loss of secondary sexual hair
  • Testicular atrophy due to iron deposition affecting hypothalamo-pituitary function
  • Dilated cardiomyopathy and heart failure may occur in some patients due to iron deposition in cardiac muscle.
 
INVESTIGATIONS
  • Transferrin saturation and serum ferritin are elevated
  • The definitive test is to measure iron stores in liver biopsy
  • For noninvasive estimation of iron load in liver, MRI is the best modality
  • Investigations to confirm diagnosis of diabetes mellitus. Blood sugars (fasting and 2 hours postmeal and glycosylated Hb level)
  • Tests to confirm the diagnosis of cirrhosis liver (liver function tests, radionuclear liver scan).
 
MANAGEMENT
  • Alcohol is prohibited
  • Cast iron cook wares should not be used for cooking
  • Removal of blood by phlebotomy. Frequency of phlebotomy and amount of blood removed varies. Initially 500 mL of blood weekly for 1–2 years, later once in every 3 months.
  • Dexferoxamine (an iron chelating agent) is used when venesection is not feasible.
  • Other family members must be screened and treated at very early stage to cure them.
VIVA VOCE
Q1. Describe the most common cause of death in hereditary hemochromatosis.
The most common cause of death is hepatocellular carcinoma.
Patients diagnosed in early stages (sub-clinical precirrhotic stage) and treated by regular phlebotomy have a normal life expectancy.
Early venesection particularly in those who have not developed diabetes mellitus or cirrhosis liver is beneficial as it prevents progression of liver disease and ultimately prevents complication of hepatocellular carcinoma.