CME 
JOBS 
OUTBREAKS 
PEER-TO-PEER 
QUIZZES & QUESTIONS 
MEDTECH 
Celiac disease (CD) affects approximately 1% of the general population, with most cases remaining undiagnosed. Although traditionally associated with malabsorptive diarrhea, CD now presents with varied clinical manifestations. Current diagnostic approaches combine serology, histology, and clinical presentation, with tissue transglutaminase (TTG) IgA testing serving as the primary screening tool.
Key Points:
- Testing is indicated for patients with classical symptoms (chronic diarrhea, malabsorption, steatorrhea) and nonclassical presentations (iron-deficiency anemia, elevated transaminases, neuropathy, infertility). Only 30% of newly diagnosed patients present with diarrhea, and 27% of CD patients in the US are overweight.
- High-risk groups requiring screening include first-degree relatives of CD patients, individuals with Down syndrome, Turner syndrome, Williams syndrome, and those with autoimmune conditions like type 1 diabetes mellitus and autoimmune thyroid disease.
- Initial testing should include TTG-IgA antibody and total IgA level (95% sensitivity and specificity). For IgA-deficient patients, TTG-IgG becomes the preferred test. Comprehensive CD panels are discouraged due to specificity concerns.
- Diagnosis confirmation requires duodenal biopsy (1-2 from bulb, 4+ from distal duodenum) showing increased intraepithelial lymphocytes, crypt hyperplasia, and villous atrophy. Non-biopsy diagnosis protocols exist for children but are not recommended for adults.
- Treatment requires lifelong gluten-free diet with regular monitoring. Follow-up includes serologic testing at 3-6 months, then biannually until seroconversion, and annually thereafter. Guidelines suggest assessing intestinal healing via follow-up biopsy after 2 years.
HCN Medical Memo
Modern celiac disease diagnosis requires a systematic approach combining serology, histology, and clinical presentation. Maintain high clinical suspicion even in the absence of classical symptoms, as presentation patterns continue to evolve.
More on Celiac Disease
