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Celiac Disease - Basic discussion on the Disease
- 1. Celiac Disease B Y :A N D R E W PA R K E R 0 3 / 1 2 / 2 5
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- 3. Celiac Disease • Celiacdisease is an autoimmune disorder triggered by gluten. • Affects approximately 1% of the population but is underdiagnosed. • Important for Family Medicine physicians to recognize early signs.
- 4. Epidemiology • Prevalence: ~1%worldwide; higher in those with family history. • More common in Caucasians of European descent. • Often diagnosed in childhood or middle adulthood. • Underdiagnosed due to variable presentation.
- 5. Pathophysiology • Ingestion ofgluten triggers an immune response. • Anti-TTG (Anti-tissue Transglutaminase/Anto-EMA (AntiEndomysial) Antibodies • Damage to small intestinal villi (villous atrophy). • Jejunum us Most affected • Malabsorption of nutrients. • Involves genetic predisposition (HLA-DQ2, HLA- DQ8).
- 6. Risk Factors • First-degreerelative with celiac disease. • Type 1 diabetes. • Autoimmune thyroid disease. • Down syndrome, Turner syndrome.
- 7. Clinical Presentatio n Classic symptoms: Diarrhea,weight loss, FTT (Child), Mouth Ulcers. Atypical symptoms: Fatigue, anemia, osteoporosis, dermatitis herpetiformis, recurrent miscarriage. Silent celiac disease: Positive serology but asymptomatic. Non-GI symptoms: Neuropathy, depression, infertility.
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- 9. Case Presentation • History:38-year-old woman with chronic fatigue, iron deficiency anemia, and intermittent bloating. • Exam: Mild pallor, no significant findings. • Labs: CBC shows microcytic anemia; low ferritin. • Next steps?
- 10. Diagnosis • Serologic tests: •Tissue transglutaminase IgA (tTG-IgA) – first- line test. • Total IgA to rule out IgA deficiency. • Deamidated gliadin peptide (DGP-IgG) if IgA deficient. • Confirmatory test: Duodenal biopsy via endoscopy. • Marsh classification of villous atrophy. • Genetic testing: HLA-DQ2, HLA-DQ8 (useful in select cases).
- 11. Recommendation • It isrecommended to co-test in all new DM 1 diagnosis (Strong Association)
- 12. Differential DX • Irritablebowel syndrome (IBS). • Crohn’s disease. • Small intestinal bacterial overgrowth (SIBO). • Lactose intolerance. • Functional dyspepsia.
- 13. Management • Gluten-free diet(GFD): Lifelong, strict adherence. • Nutritional deficiencies: Supplement iron, calcium, vitamin D, B12. • Monitor symptoms: Follow-up serology (tTG-IgA). • Screen at-risk family members. • Consider referral to gastroenterology if severe or uncertain diagnosis.
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- 15. Role of theFamily Medicine Physician • Recognize early and atypical presentations. • Order appropriate screening tests. • Educate patients about dietary changes. • Address nutritional deficiencies. • Iron, B12, Folate, Vitamin D, Calcium, Magnesium, Zinc, Etc… • Remember Levothyroxine may not be absorbed as well… • Monitor adherence and refer if needed.
- 16. Complications • Osteoporosis. • Malignancy:Increased risk of enteropathy-associated T-cell lymphoma (EATL). • Persistent symptoms: Consider refractory celiac disease or hidden gluten exposure.
- 17. Follow-Up & Long-TermCare • Annual follow-up for symptoms, adherence, and nutritional status. • Repeat tTG-IgA levels. • Bone density screening in high-risk patients. • Psychological support for dietary changes.
- 18. Summary • Celiac diseaseis often underdiagnosed in primary care. • Classic and atypical presentations exist. • Diagnosis via serology and biopsy. • Strict gluten-free diet is the cornerstone of treatment. • Family Medicine physicians play a key role in screening, initial management, and follow- up.
- 19. Advances Zonulin inhibitors, enzymetherapy, and immune modulation.
- 20. Zonulin and IntestinalPermeability • What is Zonulin? • A protein that modulates intestinal permeability by regulating tight junctions between enterocytes. • Role in Celiac Disease: • Increased zonulin levels lead to greater intestinal permeability. • Allows gluten peptides to cross the epithelial barrier, triggering an immune response. • Discovery: • Identified by Dr. Alessio Fasano as a critical factor in the pathogenesis of celiac disease.
- 21. Therapeutic Approaches TargetingZonulin • Zonulin Inhibitors: • Larazotide acetate (AT-1001): A drug in clinical trials that tightens intestinal junctions to prevent gluten peptide leakage. • Shown to reduce symptoms and inflammation in celiac patients. • Potential Benefits: • May allow better symptom control even with minimal gluten exposure. • Could serve as an adjunct to a gluten-free diet.
- 22. Emerging Therapeutic Research •IMU-856: • A novel small-molecule drug promoting gut barrier integrity. • Early trials suggest improved nutrient absorption and reduced damage from gluten exposure. • Enzyme Therapies: • Latiglutenase: An oral enzyme therapy designed to break down gluten peptides before they trigger an immune response. • Aimed at reducing symptoms in patients with accidental gluten exposure. • Vaccine Research: • Nexvax2: An experimental vaccine targeting the immune response to gluten. • Aims to induce immune tolerance but currently on hold due to trial results.
- 23. Future Directions inCeliac Disease Treatment • Current Challenges: • Strict gluten-free diet remains the only proven treatment. • Need for therapies that provide greater flexibility in dietary management. • Future Research: • Combining zonulin inhibitors, enzyme therapy, and immune modulation. • Genetic and microbiome studies to identify additional therapeutic targets.