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Malabsorption Syndromes

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Malabsorption Basics - Gut's Big Gulp

  • Definition: Impaired intestinal absorption of one or more dietary nutrients.
  • Phases of Absorption (L-A-D):
    • Luminal: Pancreatic enzymes & bile salts digest food; micelle formation for fats.
    • Absorptive (Mucosal): Nutrients cross apical membrane of enterocytes; processing within cell. Intestinal Villi Structure
    • Delivery (Post-mucosal): Transport via lymphatics (fats, fat-soluble vitamins) & portal vein (others).
  • Mechanisms:
    • Pre-mucosal (Luminal): Defective hydrolysis/solubilization (e.g., Pancreatic insufficiency, ↓bile salts, ZES, Bacterial overgrowth).
    • Mucosal: ↓Surface area, defective enzyme/transport (e.g., Celiac disease, Whipple's, Tropical sprue, Lactase deficiency).
    • Post-mucosal: Obstruction of lymphatics (e.g., Lymphoma, Intestinal lymphangiectasia, TB).

⭐ Definition of steatorrhea: >7g fecal fat/24h on a 100g fat/day diet.

Symptom Spectrum - Telltale Tummy

⭐ Weight loss despite adequate or increased oral intake is a hallmark of malabsorption.

  • Key GI Symptoms:
    • Chronic diarrhea, often steatorrhea (bulky, pale, foul-smelling, greasy stools)
    • Abdominal distension, bloating, ↑flatus, borborygmi
    • Weight loss (adults), failure to thrive (children), fatigue, anorexia
  • Nutrient Deficiency Clues (Systemic Impact):
    • Anemia (↓Fe, ↓B12, ↓folate): pallor, glossitis, angular stomatitis
    • Bleeding (↓Vit K): easy bruising, petechiae, purpura
    • Bone pain/fractures (↓Vit D, ↓Ca): osteomalacia, osteoporosis
    • Neurological (↓B12, ↓Thiamine): paresthesias, ataxia; Tetany (↓Ca, ↓Mg)
    • Edema (↓protein)
    • Skin/Mucosal (↓Vitamins, ↓Zinc): dermatitis (e.g., herpetiformis in celiac), hyperkeratosis (↓Vit A), night blindness (↓Vit A)

Diagnostic Toolkit - Gut Sleuthing

  • Initial Clues:
    • Blood tests: CBC (anemia), Albumin (↓), Ca (↓), Vit D (↓), PT (↑).
  • Fat Malabsorption:
    • Sudan III stain (stool, qualitative).
    • ⭐ > The gold standard for diagnosing fat malabsorption is quantitative 72-hour fecal fat estimation (>7g/day abnormal).
  • Carbohydrate Malabsorption:
    • D-xylose test: Distinguishes mucosal vs. pancreatic.
      • Normal: >25mg/dL (2h serum), >4g (5h urine).
      • Low in mucosal disease.
    • Hydrogen breath tests (lactose intolerance; glucose for SIBO).
  • Protein Malabsorption: Fecal α1-antitrypsin (protein-losing enteropathy).
  • SIBO: Jejunal aspirate (>10^5 CFU/mL).
FeatureCeliac DiseaseTropical SprueWhipple's Disease
EtiologyGluten sensitivity (HLA-DQ2/DQ8)?Infectious; post-infectious enteropathyTropheryma whipplei (Gram+ actinomycete)
Key ClinicalDiarrhea, wt loss, anemia, dermatitis herpetiformisChronic diarrhea, steatorrhea, megaloblastic anemia (folate/B12↓)Arthralgia, wt loss, diarrhea, neuro sx (📌 WAND: Wt loss, Arthralgia, Neuro sx, Diarrhea)
Dx MarkersAnti-tTG IgA, Anti-EMA, Anti-DGP; HLA-DQ2/DQ8↓ Folate, ↓ B12; exclusionPCR for T. whipplei
BiopsyVillous atrophy, crypt hyperplasia, ↑IELsPartial villous atrophy, ↑IELs, chronic inflammationPAS+ macrophages in lamina propria
TreatmentLifelong gluten-free diet (GFD)Tetracycline + Folic acid (months)Prolonged antibiotics (Ceftriaxone then TMP-SMX)

⭐ Anti-tissue transglutaminase (Anti-tTG) IgA antibodies are the most sensitive and specific serological screening test for Celiac Disease.

High‑Yield Points - ⚡ Biggest Takeaways

  • Celiac Disease: HLA-DQ2/DQ8 linked; anti-TTG IgA antibodies; villous atrophy on biopsy.
  • Tropical Sprue: Endemic areas; chronic diarrhea, malabsorption; responds to tetracycline & folic acid.
  • Whipple's Disease: T. whipplei; arthralgia, weight loss, diarrhea, neurological symptoms; PAS-positive macrophages.
  • Pancreatic Insufficiency: Steatorrhea; low fecal elastase-1; enzyme replacement therapy.
  • SIBO: Diagnosed by carbohydrate breath tests (glucose/lactulose) or jejunal aspirate culture.
  • D-xylose test: Differentiates mucosal disease (impaired absorption) from pancreatic insufficiency (normal absorption).

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