Malabsorption syndromes

Malabsorption syndromes

Malabsorption syndromes

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Malabsorption - Gut Feeling Gone Wrong

  • Pathophysiology: Impaired intestinal absorption of nutrients, leading to steatorrhea, weight loss, and vitamin deficiencies.
  • Classification:
    • Pancreatic Insufficiency: ↓ Lipase (e.g., Chronic Pancreatitis, Cystic Fibrosis).
    • Bile Salt Deficiency: ↓ Micelle formation (e.g., Cholestasis, Bacterial Overgrowth).
    • Mucosal Defects: ↓ Surface area (e.g., Celiac Disease, Whipple Disease).

Villous atrophy in malabsorption syndromes

⭐ The D-xylose test distinguishes mucosal from pancreatic causes. Low urinary/serum D-xylose suggests a mucosal defect as its absorption is independent of pancreatic enzymes.

Celiac Disease - Gluten's Arch Nemesis

  • Autoimmune-mediated intolerance to gliadin (a gluten protein) found in wheat, barley, and rye.
  • Strongly associated with HLA-DQ2 and HLA-DQ8.
  • Clinical Features: Chronic diarrhea/steatorrhea, bloating, weight loss, and nutritional deficiencies (e.g., iron deficiency anemia).
  • Diagnosis:
    • Initial test: IgA anti-tissue transglutaminase (tTG) antibodies.
    • Gold standard: Small bowel biopsy showing histologic changes.
  • Histopathology: Villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes.

Celiac Disease: Normal vs. Atrophic Villous Histology

⭐ Dermatitis herpetiformis (a pruritic papulovesicular rash on extensor surfaces) is a specific skin manifestation.

  • Treatment: Lifelong, strict gluten-free diet.

Key Syndromes - The Usual Suspects

  • Celiac Disease

    • Autoimmune reaction to gluten (gliadin) in genetically susceptible individuals (HLA-DQ2/DQ8).
    • Location: Primarily affects duodenum & proximal jejunum.
    • Histology: Blunting/atrophy of villi, crypt hyperplasia, ↑ intraepithelial lymphocytes.
    • Labs: ↑ IgA anti-tissue transglutaminase (tTG), anti-endomysial antibodies.
    • Celiac Disease: Normal vs. Atrophic Villi

    ⭐ Associated with dermatitis herpetiformis, an intensely pruritic papulovesicular rash on extensor surfaces.

  • Tropical Sprue

    • Occurs in residents of or visitors to tropical regions; likely infectious etiology.
    • Affects entire small bowel; jejunum & ileum involvement leads to folate & B12 deficiency.
    • Responds to antibiotics (e.g., tetracycline) and folate supplementation.
  • Whipple Disease

    • Systemic infection with Tropheryma whipplei.
    • Histology: Lamina propria filled with PAS-positive foamy macrophages.
    • 📌 Mnemonic: Foamy Whipped cream in a CAN (Cardiac, Arthralgias, Neurologic symptoms).

Clinical Workup - Cracking the Code

  • Initial Tests: Sudan stain or quantitative fecal fat (>7 g/day) to confirm steatorrhea.
  • D-xylose Test: Differentiates pancreatic vs. mucosal causes.

⭐ Low urinary D-xylose points to a mucosal defect (e.g., celiac disease), as the intestine itself cannot absorb the monosaccharide. Normal levels suggest a pancreatic enzyme deficiency is the likely culprit.

High‑Yield Points - ⚡ Biggest Takeaways

  • Celiac disease: Autoimmune, HLA-DQ2/DQ8-associated reaction to gluten causing villous atrophy.
  • Whipple disease: Systemic infection (T. whipplei) with PAS-positive macrophages in lamina propria.
  • Tropical sprue: Affects the entire small bowel (jejunum/ileum) and responds to antibiotics.
  • Lactase deficiency: Results in osmotic diarrhea; diagnosed via hydrogen breath test.
  • Pancreatic insufficiency: Causes steatorrhea and fat-soluble vitamin (A, D, E, K) deficiency.
  • D-xylose test: Distinguishes mucosal damage (impaired absorption) from enzyme deficiency (normal absorption).

Practice Questions: Malabsorption syndromes

Test your understanding with these related questions

A 35-year-old Caucasian female presents with anemia, malaise, bloating, and diarrhea. Past genetic testing revealed that this patient carries the HLA-DQ2 allele. The physician suspects that the patient's presentation is dietary in cause. Which of the following findings would definitively confirm this diagnosis?

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Flashcards: Malabsorption syndromes

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Celiac disease is characterized histologically by increased intraepithelial _____

TAP TO REVEAL ANSWER

Celiac disease is characterized histologically by increased intraepithelial _____

lymphocytes

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