MALABSORPTION SYNDROME
Haider Husaini Assistant Professor
Department of Medicine
Definition
• Maldigestion is defined as defective intraluminal
hydrolysis of nutrients such as carbohydrates, proteins and fats into absorbable
oligosaccharides, amino acids and fatty acids
• Malabsorption is defined as defective mucosal
absorption and transport of digested nutrients
• Malabsorption syndrome encompasses both
maldigestion and malabsorption of nutrients such as protiens, fats, carbohydrates, vitamins, minerals and water
• Malabsorption can be caused by many
diseases of the small intestine, diseases of the
pancreas, liver, biliary tract and stomach
• The clinical challenge is to recognize
malabsorption despite its subtle clinical
manifestations and unavailable diagnostic
tests
Classification
1. Inadequate digestion
• Post gastrectomy
• Exocrine Pancreatic Insufficiency i.e chronic pancreatitis, cystic fibrosis, CA pancreas
• Gastrinoma
• Drugs like Orlistat
2. Reduced Intra duodenal bile acid
concentration/impaired micelle formation
• Liver ds
• Small Intestinal Bowel Overgrowth (SIBO)
• Interrupted enterohepatic circulation of bile salts i.e ileal resection, crohn’s ds
• Drugs binding or precipitating bile salts like
calcium carbonate, cholestyramine
• Impaired mucosal absorption/mucosal defect
due to inflammation i.e Crohn’s ds, Celiac ds, Whipple’s ds, Tropical sprue etc
• Genetic disorders like Abetalipoproteinemia, Agammaglobulinemia, Dissacharide
deficiency, Hartnup ds, Cystinuria
3. Impaired nutrient delivery to/from intestine
• Lymphatic obstruction i.e Lymphoma,
Lymphangiectasia
• Circulatory disorders i.e CHF, Constrictive
Pericarditis, mesenteric artery atherosclerosis
4. Endocrine and metabolic disorders
• Diabetes
• Hypoparathyroidism
• Adrenal Insufficiency
• Hyperthyroidism
• Carcinoid syndrome
Pathophysiology of Maldigestion
MECHANISM MALABSORBED NUTRIENT CAUSES
Conjugated Bile Acid Deficiency
Fat, Fat soluble Vitamins, Calcium, Magnesium
Liver ds, Biliary
obstruction, SIBO with bile acid deconjugation, ileal bile acid malabsorption, CCK deficiency
Pancreatic Insufficiency
Fat, Protein, Carbohydrate, Fat soluble Vitamins, Vit B12
Chronic Pancreatitis, CA pancreas, ZES syndrome
Reduced Mucosal Digestion
Carbohydrate, Protein Congenital defects, Celiac ds, Crohn’s ds
Intraluminal
Consumption of Nutrients
Vitamin B12 SIBO, Helminthic infections like Diphyllobothrium
latum
Pathophysiology of Malabsorption
MECHANISM MALABSORBED NUTRIENT CAUSES
Reduced Mucosal Absorption
Fat, Protein, Carbohydrate, Vitamins, Minerals
Congenital transport defects, Generalized
mucosal ds like Celiac ds, Crohn’s ds, Intestinal resection, Infections, intestinal Lymphoma
Decreased
Transport from the Intestine
Fat, Protein Intestinal
Lymphangiectasia, Solid tumors, Whipple’s ds, Lymphomas, CHF
Clinical Features
SYMPTOM/SIGN MECHANISM
Weight loss/Malnutrition Anorexia, Malabsortion of nutrients
Diarrhea Impaired absorption or secretion of water
& electrolytes, Colonic fluid secretion
secondary to unabsorbed bile salts & fatty acids
Flatus Bacterial fermentation of unabsorbed
carbohydrates
Glossitis, Cheilosis, Stomatitis Deficiency of Iron, Vit B12, Folic acid, Vit A
Abdominal pain Bowel distention or inflammation,
pancreatitis
Bone pain Calcium, Vit D malabsorption, protein
deficiency, Osteoporosis
Tetany, Paresthesias Calcium and Magnesium malabsorption
SYMPTOM/SIGN MECHANISM
Weakness Anemia, Potassium depletion
Azotemia, Hypotension Fluid & electrolyte depletion
Amenorrhea, decreased libido Protein depletion, decreased calories, secondary hypopituitarism
Anemia Impaired absorption of iron, folate, vit
B12
Bleeding Vitamin K malabsorption,
hypoprothrombinemia Night blindness/Xerophthalmia Vitamin A malabsorption
Peripheral Neuropathy Vitamin B12 & Thiamine deficiency
Dermatitis Deficiency of vitamin A, Zinc, essential
fatty acids
SIGNS/SYMPTOMS MECHANISM
Steatorrhoea
(Pale, bulky, malodorous stool,
floating oil droplets on top of water, difficult to flush)
Fat malabsorption
Oedema Hypoalbuminemia, extensive
lymphatic obstruction
Approach to Malabsorption
NUTRIENTS PART OF GUT INVOLVED IN ABSORPTION
Calcium Iron
Folic acid
Exclusively absorbed in Proximal Small intestine (Duodenum)
Bile Acids Vitamin B12
Exclusively in Ileum
Glucose
Amino Acids Lipids
Absorbed throughout Small Intestine
Investigations
• CBC
• Prothrombin time
• TSP A:G
• Alkaline Phosphatase
• Serum Cholesterol
• Serum Iron
• Serum Folate
• Serum Cobalamin
• Timed Quantitative
Stool Fat determination
• Fat Soluble Vitamins A,D,E,K
• Schilling test
• Urinary D-Xylose test
• Radiology
• Small Intestinal biopsy
Radiology
• Barium Studies
• CT enteroclysis/enterography
• MR enterography
Biopsy of Small Intestinal Mucosa
• Indications
➢ Steatorrhea
➢ Chronic Diarrhea
➢ Diffuse or focal abnormalities on barium
LESIONS PATHOLOGIC FINDINGS
DIFFUSE, SPECIFIC
1.) Whipple’s disease
2.) Agammaglobulinemia 3.) Abetalipoproteinemia
Lamina propria shows macrophages containing PAS positive stain
No plasma cells, absent or flat villi Normal villi, epithelial cells vacoulated with fat postprandially
PATCHY, SPECIFIC
1.) Intestinal Lymphoma
2.) Intestinal Lymphangiectasia 3.) Eosinophilic gastroenteritis 4.) Amylodosis
5.) Crohn’s disease 6.) Mastocytosis
Malignant cells in lamina propria &
submucosa
Dilated lymphatics, clubbed villi
Eosinophilic infiltration in lamina propria Amyloid deposits
Non caseating granulomas
Mast cell infiltration of lamina propria
LESIONS PATHOLOGIC FINDINGS
DIFFUSE, NONSPECIFIC
1.) Celiac disease
2.) Tropical Sprue 3.) SIBO
4.) Folate/Vit B12 deficiency/Radiation enteritis
5.) Zollinger Ellison Syndrome 6.) PEM
Short or absent villi, mononuclear infiltrate, epithelial cell damage, hypertrophy of crypts
Same as celiac ds
Patchy damage to villi, lymphocytic infiltration
Short villi, decreased mitosis in crypts, megalocytosis
Mucosal ulceration, erosion fom acid Villous atrophy, secondary bowel overgrowth