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  1. 1. Malabsorption Disorders in which there is disruption of digestion and nutrient absorption
  2. 2. Clinical manifestations Steatorrhea (bulky, light colored stools) Diarrhea TG’s Fats, CHO, Water Weight loss; muscle wasting Fats, Proteins, CHO Anemia Iron, B12, folate Paresthesias, tetany, Calcium, Vit D Bone pain pathological fractures, deformities Calc Bleeding tendencies Vitamin K Edema Proteins
  3. 3. Laboratory findings Increase in fecal fats Decreased albumin and proteins Decreased Ca, Iron, B12, red cell folate Prolonged prothrombin time Abnormal D-Xylose absorption Decreased Vitamin A, carotene levels
  4. 4. Normal digestion Intraluminal phase: Nutrients are hydrolyzed and solubilized fats: monoglycerides and fatty acid proteins: di- and tri-peptides, amino acids CHO: di- and mono-saccharides
  5. 5. Defects in intra-luminal phase Decreased pancreatic enzymes Chronic pancreatitis, cystic fibrosis, Z-E syndrome Insufficient bile salts Biliary obstruction Resection and /or diseases of terminal ileum Bacterial overgrowth Produce significant steatorrhea. Protein and CHO digestion is affected less
  6. 6. Mucosal phase Sufficient surface area of intestinal epithelium Brush border enzymes
  7. 7. Defects in mucosal phase Deficiency of brush border enzymes Lactase Short bowel syndrome Malabsorption of all nutrients; fats, CHO, and proteins
  8. 8. Absorptive phase Majority of nutrients are directly absorbed from epithelial cells into blood stream Chylomicrons and lipoproteins are absorbed through lymphatics; lymphatic obstruction can impair their absorption Leads to steatorrhea and protein losing enteropathy
  9. 9. Labs Routine blood tests in malabsorption Microcytic anemia (iron deficiency) Macrocytic anemia(folate or B12 deficiency) Increased prothrombin time (vit. K def) Hypoalbunemia Hypocalcemia and Vit. D def Deficiencies of zinc, phosphate, and magnesium
  10. 10. Case presentation Ms. Sakina is 22years of age and came to her physician with complaints of weakness, easy fatiguability and body aches and pains. She passes 2-3 loosely formed, pale and bulky stools per day, and has abdominal bloating for the last six months. She has a reasonable appetite; has no food fads; and belongs to middle socioeconomic class.
  11. 11. No past H/O abdominal complaints. No associated fever or constitutional symptoms. No H/O abdominal surgery or radiation therapy. One elder sister has related symptoms.
  12. 12. Differential diagnosis What is the possible cause? Malabsorption Intra-luminal phase defects? Mucosal phase defects? Absorptive phase defects?
  13. 13. Physical findings Ms. Sakina was found to be pale. Her BMI was 19.6. She neither had edema nor any skin bruises. She had bone tenderness and a positive Chvostek’s sign. The abdomen was distended, soft, non tender, with no organomegaly; it was hyper-resonant on percussion. Can you make a diagnosis now?
  14. 14. Lab findings Hb TLC, DLC, PLT 75gm/l normal Retics count 1.2% Red cell morphology microcytic, hypo chromic PTT 4sec prolonged Serum albumin Serum calcium 38gm/l 8.8mg/dl
  15. 15. What is this history, physical examination, and lab data suggestive of? Malabsorption due to ? Further lab tests are needed to find a possible cause
  16. 16. Establishing the cause Small intestinal biopsy Normal histology with well formed villous pattern almost excludes diffuse small intestinal mucosal disease Biopsy is usually abnormal in Celiac disease Tropical sprue Whipple’s disease
  17. 17. Establishing the cause Small intestinal radiography is usually diagnostic in diseases with a gross anatomical abnormality as jejunal diverticulosis precipitating bacterial overgrowth, diffuse Crohn’s disease, and lymphoma. Hydrogen breath test Pancreatic imaging Plain X-rays, USG, CT scan, and ERCP
  18. 18. Usual causes of generalized malabsorption Post infectious malabsorption / tropical sprue Celiac disease (Non-tropical sprue) Bacterial overgrowth Diverticulosis, blind loops, hypo motile states Short gut syndrome Immunodeficiency Pancreatic diseases
  19. 19. Ms. Sakina had a normal Plain X-ray of abdomen. Her abdominal USG was also normal.  A small bowel enema was done and it did not reveal any abnormality. Hydrogen breath test after 50 gm lactose was also unremarkable.
  20. 20. Duodenal biopsy from D2 revealed a blunting and shortening of villous pattern and infiltration of lamina propria with plasma cells and lymphocytes. Antibodies against gliadin, reticulin, and endomysium were present. Diagnosis? COELIAC DISEASE
  21. 21. Ms. Sakina was treated with a short course of steroids and was advised strict gluten free diet. Her symptoms improved dramatically and steroids were withdrawn, after tapering, in six weeks Four months later, the duodenal biopsy was found to be normal.
  22. 22. Alternative scenarios If the abdominal USG shows calcification in the region of pancreas and D-xylose test is abnormal? Ms. Sakina has a past H/O Hodgkin’s Lymphoma and H/O abdominal radiation? Duodenal biopsy shows villous atrophy but antibody screen is negative
  23. 23. Alternative scenarios Small bowel enema shows jejunal diverticulosis and hydrogen breath test is positive? Small bowel enema is normal but hydrogen breath test is positive? Ms. Sakina has normal lab tests, USG abdomen, and Barium followthrough?
  24. 24. Take home message In a case of chronic diarrhea first establish the presence of malabsorption and if present the work up the cause of malabsorption
  25. 25. Thank you