Malabsorption syndromes

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Malabsorption - The Leaky Pipeline

  • Pathophysiology: Impaired intestinal absorption of nutrients, leading to nutritional deficiencies & GI symptoms.
  • Hallmark Sign: Steatorrhea (fatty, foul-smelling stools), weight loss, abdominal distension.
  • Classification:
    • Pre-mucosal: Defective digestion (e.g., pancreatic insufficiency).
    • Mucosal: Damaged absorptive surface (e.g., Celiac disease, Whipple's disease).
    • Post-mucosal: Impaired nutrient transport (e.g., lymphatic obstruction).
  • Key Diagnostics:
    • Qualitative stool fat (Sudan III stain).
    • D-xylose test to differentiate mucosal from pancreatic causes.

D-xylose Test: A monosaccharide absorbed without pancreatic enzymes. A low urinary D-xylose level suggests mucosal damage (e.g., Celiac disease), as the intestine cannot absorb it.

Pathogenesis of Celiac Disease

Diagnostic Workup - Following the Clues

  • Initial Labs: CBC (anemia), iron studies, folate, vitamin B12, albumin, prothrombin time (PT).
  • Stool Studies:
    • Qualitative: Sudan III stain for fecal fat.
    • Quantitative: 72-hour fecal fat collection is the gold standard (abnormal: >7 g/day).

⭐ The D-xylose test is key: it's a monosaccharide absorbed in the proximal intestine without pancreatic enzymes. A low urinary/serum level after an oral dose points to mucosal defects (e.g., celiac disease), not pancreatic insufficiency.

Celiac Disease - Gluten's Gut Grudge

  • Pathophysiology: Autoimmune reaction to gliadin (a gluten protein) in individuals with HLA-DQ2/DQ8 haplotypes, leading to inflammation and damage of the small bowel mucosa.

Celiac disease histology: normal vs. affected villi

  • Clinical Features:
    • GI: Chronic diarrhea/steatorrhea, bloating, weight loss.
    • Extra-intestinal: Dermatitis herpetiformis (pruritic papulovesicular rash on extensor surfaces), iron deficiency anemia, fatigue.
  • Diagnosis:
    • Serology: ↑ IgA anti-tissue transglutaminase (tTG) is the preferred initial test.
    • Biopsy: Duodenal biopsy is the gold standard, showing villous atrophy, crypt hyperplasia, and intraepithelial lymphocytosis.

Associated Malignancy: Patients have an increased risk of developing enteropathy-associated T-cell lymphoma (EATL) and small bowel adenocarcinoma.

  • Whipple Disease

    • Systemic infection with Tropheryma whipplei.
    • Presents with migratory polyarthritis, abdominal pain, diarrhea, and weight loss. May have CNS or cardiac signs.
    • 📌 Mnemonic: "Foamy WHIPPed cream" for Foamy macrophages in Whipple disease.
    • ⭐ Biopsy reveals PAS-positive, diastase-resistant macrophages in the lamina propria.

  • Tropical Sprue

    • Acquired syndrome in tropical regions, likely infectious.
    • Chronic diarrhea and megaloblastic anemia (↓ folate/B12) after travel.
    • Responds to antibiotics (e.g., tetracycline) and folic acid.
  • Short Bowel Syndrome

    • Malabsorption post-surgical resection. Severity depends on length/site.
    • Loss of ileum is most critical (↓ bile salt and B12 absorption).
  • Small Intestinal Bacterial Overgrowth (SIBO)

    • Excess bacteria deconjugate bile acids, causing malabsorption.
    • Presents with bloating, flatulence, watery diarrhea.

High-Yield Points - ⚡ Biggest Takeaways

  • Celiac disease is strongly associated with HLA-DQ2/DQ8, villous atrophy, and dermatitis herpetiformis.
  • Whipple disease presents with a classic triad of diarrhea, weight loss, and arthralgia; look for PAS-positive macrophages on biopsy.
  • Pancreatic insufficiency (e.g., chronic pancreatitis, cystic fibrosis) is a primary cause of steatorrhea and fat-soluble vitamin deficiencies.
  • The D-xylose test helps distinguish mucosal defects (abnormal result) from pancreatic causes (normal result).
  • Lactose intolerance causes osmotic diarrhea and bloating after dairy intake.

Practice Questions: Malabsorption syndromes

Test your understanding with these related questions

A 21-year-old woman comes to the physician because of a 2-month history of fatigue, intermittent abdominal pain, and bulky, foul-smelling diarrhea. She has had a 4-kg (8-lb 12-oz) weight loss during this period despite no changes in appetite. Examination of the abdomen shows no abnormalities. Staining of the stool with Sudan III stain shows a large number of red droplets. Which of the following is the most likely underlying cause of this patient’s symptoms?

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Flashcards: Malabsorption syndromes

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What malabsorption syndrome is associated with dermatitis herpetiformis?_____

TAP TO REVEAL ANSWER

What malabsorption syndrome is associated with dermatitis herpetiformis?_____

Celiac disease

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