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Celiac Disease Genetics
- HLA-DQ2 (95%) or HLA-DQ8 (5%) â necessary
- 1% prevalence in Caucasian/European
- 0.5% in Asian (increasing)
- Family: 10x risk
Celiac Serology
- Anti-tTG IgA (preferred screen)
- Total IgA â rule out deficiency
- If IgA deficient: anti-tTG IgG, anti-DGP IgG
- EMA confirmatory
- Anti-gliadin (older, less specific)
Celiac Duodenal Biopsy
- Gold standard
- 4-6 samples distal duodenum + bulb
- Marsh classification 1-3c
- Villous atrophy + crypt hyperplasia + IEL
- Must be on gluten diet for testing
Celiac Treatment
- Lifelong strict gluten-free diet (GFD)
- Avoid wheat, barley, rye
- Oats acceptable (cross-contamination risk)
- < 20 ppm gluten in âgluten-freeâ labeled
- Dietitian guidance
Associated Conditions
- T1DM (5-10% have celiac)
- Autoimmune thyroid
- IgA deficiency
- Down + Turner syndromes
- PBC, autoimmune hepatitis
- Sjögren
Refractory Celiac
- Persistent symptoms + histology > 12 months
- Type I (no clonal IEL) vs Type II (clonal IEL â EATL risk)
- Budesonide, IS, biologics
Non-Celiac Gluten Sensitivity
- Symptoms without celiac/wheat allergy
- Diagnosis of exclusion
- Lower-FODMAP gluten products may help
Tropical Sprue
- Tropical regions
- Tetracycline + folate + B12
Whipple Disease
- T. whipplei
- Multisystemic
- PAS+ macrophages
- IV ceftriaxone â TMP-SMX 1 year
SIBO
- Diabetic, scleroderma, post-surgery, achlorhydria
- Hydrogen breath test
- Rifaximin 550 TID Ã 14 days
- Recurrent: re-treatment + underlying
Lactose Intolerance
- Primary: Asians, Africans, Native Americans
- Secondary: post-enteritis, celiac
- Hydrogen breath test
- Avoidance + Lactaid
Pancreatic Insufficiency
- Fecal elastase < 200 ÎŒg/g
- PERT (pancrelipase) with all meals
- ADEK vitamins
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| Celiac |
Anti-tTG IgA + biopsy |
GFD lifelong |
| Tropical sprue |
Tropical area |
Tetracycline + folate |
| Whipple |
PAS+ macrophages, PCR |
Ceftriaxone â TMP-SMX |
| SIBO |
Hydrogen breath test |
Rifaximin |
| Lactose intolerance |
Hydrogen breath test |
Avoidance + Lactaid |
| Pancreatic insufficiency |
Fecal elastase |
PERT + ADEK |
Special Topics
EATL (Enteropathy-Associated T-Cell Lymphoma)
- Rare complication of celiac
- T-cell lymphoma
- Type II refractory celiac
- Chemotherapy + autologous SCT