Pathology

Pathology/C/37

Malabsorption

吸収不良症候群

タグ
High-yield / ポイント
  • Malabsorption = defective absorption of fats, vitamins, proteins, carbohydrates, electrolytes, minerals and water
  • Most common presentation: chronic diarrhea; hallmark = steatorrhea (fatty diarrhea)

3 normal digestive functions that can be disturbed:

  1. Intraluminal digestion: enzymatic breakdown of proteins, carbohydrates, fats
  2. Mucosal absorption: absorption + transport of water, electrolytes, nutrients into the cell
  3. Nutrient delivery: transport from intestinal cells into the lymphatics

A) Defects in Intraluminal Digestion

  • Osmotic diarrhea: excessive osmotic forces by luminal solutes; decreases with fasting
  • Steatorrhea: excess undigested fat in stool; caused by inadequate pancreatic lipases or inadequate bile solubilization of fat
  • Most common causes: pancreatic insufficiency (chronic alcoholism) and Crohn’s disease

B) Defects of Mucosal Absorption

Lactose Intolerance

  • Deficiency of lactase enzyme (brush-border of enterocytes) → inability to digest lactose
  • Inherited form (rare): milk intolerance in infants → diarrhea, weight loss, failure to thrive
  • Acquired form (common in adults): should avoid milk products

A-beta-lipoproteinemia (Apolipoprotein-B deficiency)

  • Apolipoprotein-B required for assembly of chylomicrons
  • Deficiency → no chylomicrons → mucosal cells cannot export lipids (lipids stack up in enterocytes)
  • Consequences: diarrhea, steatorrhea, systemic lipid membrane abnormalities

Celiac Disease (Gluten-sensitive enteropathy)

  • Immunological sensitivity to gluten (wheat/related grains), especially the antigen gliadin
  • Gliadin presented by APCs to CD4+ T-cells → immune response → CD8+ T-cells destroy intestinal epithelial cellsloss of villi → ↓ absorptive surface area
  • Non-infectious cause of malabsorption from reduced small intestine surface
  • Long-term risk: enteropathy-associated T-cell lymphoma or adenocarcinoma of small bowels

Tropical Sprue & Whipple Disease

  • Associated with intestinal infections
  • Intestinal mucosa contains many PAS-positive macrophages packed with rod-shaped bacilli
  • Clinical: steatorrhea, weight loss, abdominal distention, anorexia

C) Clinical Features

General symptoms: weight loss, anorexia, abdominal distention, steatorrhea

Complications by system:

System Complication Cause
Hematopoietic Anemia Iron, folate, or B12 deficiency
Hematopoietic Bleeding Vitamin K deficiency
Musculoskeletal Osteopenia + tetany Ca²⁺, Mg²⁺, vitamin D deficiency
Endocrine Amenorrhea, impotence, infertility Generalized malnutrition
Endocrine Hyperparathyroidism Protracted Ca²⁺ + vitamin K deficiency
Skin Purpura, petechia Vitamin K deficiency
Skin Dermatitis, hyperkeratosis Vitamin A, zinc, fatty acids, niacin deficiency
Nervous system Peripheral neuropathy Vitamin A + B12 deficiency

💡 High-yield: Hallmark = steatorrhea. Celiac disease = gliadin antigen → CD8+ T-cells destroy villi; risk for T-cell lymphoma + small bowel ADC. Whipple = PAS+ macrophages with rod-shaped bacilli. A-beta-lipoproteinemia = no chylomicrons; lipids stack in enterocytes. Complications: anemia (Fe/B12/folate), bleeding (vit K), osteopenia (Ca/D), peripheral neuropathy (A/B12).