Embedded Files
General Overview
General Overview
- Chronic GI disorder in which ingested gluten (protein in wheat, rye, barley) causes immune-mediated villous atrophy of the small intestine in genetically susceptible patients leading to malabsorption
- Diagnosis confirmed by endoscopic small intestine biopsy (during a gluten-containing diet)
- Clinical Spectrum
- Classical
- Malabsorption (diarrhea, steatorrhea, weight loss, growth failure)
- Nonclassical
- Absent signs of malabsorption but intestinal/extraintestinal symptoms
- Subclinical (found on screening)
- Below clinical detection but abnormal serological test and villous atrophy
- Potential (latent)
- Abnormal antibody but normal intestinal mucosa - may develop intestinal lesion (requires monitoring)
- Classical
- Treatment
- Gluten-Free Diet (GFD)
Screen
Screen
- Associated conditions at high risk
- 1st degree relative celiac (5-20%)
- DM1 (3-10%)
- Consider serology screening q1-2y
- Down syndrome
- Turner syndrome
- Autoimmune thyroid disease
- Autoimmune liver disease
- Selective IgA deficiency
- Other features
- Malabsorption
- Abdominal pain/Bloating/Distension
- Chronic diarrhea/Constipation/IBS
- Weight loss/Fatigue
- Iron deficiency anemia
- Vit-D/Calcium - Dental enamel defects/Premature Osteoporosis
- B12/Folate - Neurological symptoms (Peripheral neuropathy, ataxia, seizures)
- Skin
- Dermatitis Herpetiformis ("Celiac of the skin" - pruritic papulovesicular rash on extensor)
- Recurrent aphthous stomatitis
- Infertility
- Abnormal LFTs
- Malabsorption
- Additional features in children
- Irritability
- Recurrent vomiting
- Delayed puberty
- Growth failure/Short stature
Investigations
Investigations
- IgA tTG antibody (Sensitivity and Specificity 95%)
- False-negative
- Age<2yo
- Consider in <2yo, screen with both IgA tTG and IgG DGP Ab
- Lab error
- Reduction/elimination of gluten (may be negative within weeks of GFD)
- Gluten-containing diet should be resumed before ordering test
- Consider HLA-DQ2/DQ8 for patients on a GFD
- Note: HLA present in almost all patients with Celiac (95% DQ2, 5% DQ8)
- Selective IgA deficiency
- Immunosuppressed (eg. steroids)
- Seronegative Celiac disease (rare) - if high suspicion, consider referral for small intestinal biopsy or HLA testing
- Age<2yo
- False-negative
- Total IgA
- If <0.2g/L, consider testing IgG DGP antibodies
Diagnosis
Diagnosis
Important to differentiate between non-celiac gluten sensitivity to identify risk for nutritional deficiency, complications and evaluating risk to family members
- Positive IgA tTG Ab requires endoscopic small intestinal biopsies to confirm
- Do NOT start GFD prior to biopsy (as this will heal mucosa)
- If GFD started, resume 3g gluten daily x 2-6w and referral to GI
- Dermatitis herpetiformis
- Skin biopsy can confirm (small intestinal biopsy not required)
- In children can avoid biopsy with three criteria:
- Positive tTG Ab >10x ULN
- Positive endomysial Ab
- Positive HLA-DQ2 or HLA-DQ8
Treatment
Treatment
- Strict Gluten-free diet (avoid wheat, barlet, rye - caution with oats)
- Referral to dietician
- Consider iron, folic acid, vitamin D and B12 testing
- Consider TSH and liver transaminase q1-2y
Complications
Complications
- Nutritional deficiency (anemia)
- Osteoporosis
- Growth failure
- Autoimmune disorders (thyroid, liver)
- Malignancy (GI, Lymphoma)
References:
Google Sites
Report abuse