Malabsorption syndromes. Celiac disease

1. Big picture

Malabsorption syndrome means nutrients are not properly absorbed from the intestine, leading to chronic diarrhea, steatorrhea, weight loss, anemia, vitamin deficiencies, edema, bone disease, and bleeding tendency.

Celiac disease is the most important immune-mediated malabsorption disorder for the exam. It is a gluten-triggered autoimmune enteropathy in genetically predisposed patients, causing proximal small intestinal villous atrophy and malabsorption. The diagnosis is based on celiac serology while the patient is eating gluten, usually followed by duodenal biopsy in adults. The treatment is lifelong strict gluten-free diet. ACG defines celiac disease as a permanent immune-mediated response to gluten in wheat, barley, and rye; both serology and biopsy should be interpreted while the patient is on a gluten-containing diet. ([PubMed][1])

Exam sentence: Chronic diarrhea + steatorrhea + weight loss + iron deficiency anemia or osteoporosis → think malabsorption; if anti-tissue transglutaminase IgA or anti-endomysial antibody is positive, think celiac disease.

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