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Celiac Disease

Basics

  • Immune-mediated intolerance to gliadin (gluten component) causing small bowel damage.
  • Presentations:
  • Typical: Diarrhea, steatorrhea, weight loss, vitamin deficiencies, anemia.
  • Atypical: Minor GI symptoms, extraintestinal features (anemia, elevated LFTs, neurologic symptoms, infertility).
  • Silent: Positive labs/genetics but no symptoms or biopsy abnormalities.
  • Also called gluten-sensitive enteropathy, celiac sprue, non-tropical sprue.

Epidemiology

  • Incidence: 1-13/100,000 worldwide; 6.5/100,000 in the US.
  • Prevalence: ~0.7% in the US; ~1% worldwide.
  • More common in females (3:2).
  • Predominantly affects Northern European ancestry.

Etiology & Pathophysiology

  • Immune reaction to gliadin modified by tissue transglutaminase (tTG).
  • Causes villous atrophy and crypt hyperplasia, leading to malabsorption.
  • Strong genetic association with HLA-DQ2/DQ8.
  • Risk of enteropathy-associated T-cell lymphoma increased.

Risk Factors

  • First-degree relatives (5-20% risk).
  • Autoimmune conditions (type 1 diabetes, autoimmune thyroiditis).
  • Genetic syndromes (Down syndrome, Turner syndrome).
  • Pediatric risk: Down syndrome, IgA deficiency, autoimmune thyroid disease.

Common Associations

  • Dermatitis herpetiformis (85% have celiac disease).
  • Secondary lactase deficiency.
  • Osteopenia/osteoporosis.
  • Type 1 diabetes (3-10% prevalence).
  • Iron deficiency anemia (10-15% prevalence).
  • Autoimmune liver disease, hyposplenism, oral aphthae, restless leg syndrome.

Diagnosis

History

  • GI: Diarrhea, steatorrhea, abdominal pain, nausea, vomiting, flatulence, weight loss.
  • Systemic: Fatigue, muscle cramps, bone/joint pain, paresthesias, delayed puberty.
  • Children: Failure to thrive, short stature, chronic fatigue.

Physical Exam

  • May be normal or show:
  • Pallor, aphthous stomatitis, glossitis, angular cheilitis.
  • Dermatitis herpetiformis rash.
  • Abdominal distension.

Differential Diagnosis

  • Nonceliac gluten sensitivity.
  • Gluten allergy.
  • Lactose intolerance, SIBO.
  • Crohn disease, Whipple disease.
  • Tropical sprue, lymphoma.
  • Microscopic colitis, autoimmune enteropathy.

Diagnostic Tests

  • Serology:
  • IgA anti-tTG antibody (sensitivity 95-98%, specificity 95%) on gluten-containing diet.
  • Total serum IgA to detect IgA deficiency.
  • Anti-DGP IgA and IgG if IgA deficient.
  • Histology:
  • Duodenal biopsy with villous atrophy, crypt hyperplasia, and intraepithelial lymphocytosis.
  • Biopsy of both duodenal bulb and distal duodenum recommended.
  • Other:
  • Bone mineral density at diagnosis and follow-up.
  • HLA DQ2/DQ8 testing in select cases.

Treatment

  • Lifelong gluten-free diet (GFD): avoid wheat, barley, rye.
  • Safe grains: rice, corn, oats (uncontaminated), quinoa, amaranth.
  • Nutritional supplementation if deficiencies present.
  • Second line: steroids or immunomodulators for refractory disease.

Issues for Referral

  • Dietitian consultation.
  • Refractory disease management.
  • Pediatric patients with positive serology.

Follow-up

  • Monitor symptoms and serologies (anti-tTG IgA or DGP antibodies).
  • Repeat biopsy if no clinical improvement.
  • Screen for osteoporosis and treat if indicated.

Patient Education

  • Gluten identification in food and products.
  • Importance of strict GFD adherence.
  • Support groups and resources:
  • Celiac Disease Foundation (https://www.celiac.org/)
  • National Celiac Association (https://nationalceliac.org/)
  • Beyond Celiac (https://www.beyondceliac.org/)

Prognosis

  • Good if compliant with GFD.
  • Symptom improvement within 7 days; resolution within 4-6 weeks.

Complications

  • Increased risk of lymphoma and adenocarcinoma if untreated.
  • Nutritional deficiencies.
  • Osteoporosis.
  • Refractory celiac disease (~1-2%).

Clinical Pearls

  • Always test total IgA with anti-tTG to avoid false negatives.
  • Diagnosis requires biopsy confirmation on a gluten-containing diet.
  • Screen high-risk populations (first-degree relatives, type 1 diabetes).

References:

  1. Husby S, Murray JA, Katzka DA. AGA clinical practice update on diagnosis and monitoring of celiac disease—changing utility of serology and histologic measures: expert review. Gastroenterology. 2019;156(4):885-889.
  2. McDermid JM, Almond MA, Roberts KM, et al. Celiac disease: an Academy of Nutrition and Dietetics evidence-based nutrition practice guideline. J Acad Nutr Diet. 2023;123(12):1793-1807.e4.
  3. Bingham SM, Bates MD. Pediatric celiac disease: a review for non-gastroenterologists. Curr Probl Pediatr Adolesc Health Care. 2020;50(5):100786.