Celiac Disease
Definition: Autoimmune response to dietary gluten and associated
proteins (wheat, barley, rye) in individuals with genetic
predisposition. (HLA DQ2 & DQ8)
Clinical Manifestations
- Asymptomatic (50% of patients have no GI symptoms at the time
of diagnosis; 30% have Dx of IBS)
- GI Sx:
- FTT, Wt Loss, recurrent diarrhea, abd distension
- Abd pain, vomiting, constipation, bloating, GERD
- Non GI Sx:
- Dermatitis Herpetiformis
- Aphthous Ulcers
- Dental enamel defects
- Iron deficiency Anemia
- Hepatitis/transaminitis
- Arthritis/Arthralgias
- Osteopenia/Osteoporosis
- Short Stature
- Delayed puberty
- Unexplained infertility
- Fatigue
- Headaches
- Seizures
- Cerebellar ataxia
- Peripheral neuropathy
- Anxiety/ depression
- Behavioral Problems
Screening:
- Screen high risk groups if:
- age 3 or older
- Exposure to gluten for over 1 year
- If negative, repeat screening if patients develop symptoms or
every 3yrs
High Risk Groups
|
-Symptomatic patients
-1st and 2nd degree
relatives
-Type 1 Diabetes
-Down syndrome
-Turner Syndrome
-Williams syndrome
-IgA deficiency
-Autoimmune thyroid disease
|
Testing:
1. TTG
IgA and Total IgA
a. Positive
with symptoms -- > endoscopy
b. >10x
uln (Europe) check EMA, if positive Dx and Tx with GFD
c. Low
IgA (<5) obtain TTG-IgG and DGP-IgG, if positive -- >
endoscopy
d. Negative,
consider HLA / genetics and/or repeat testing
2. Genetics
a. 95%
HLA DR3-DQ2
b. 5%
HLA DR4-DQ8
c. If
patient doesn’t have one of these genes, celiac disease
effectively ruled out
3. Endoscopy
a. Obtain
Biopsies from the Duodenal bulb (at least 2) and 2nd portion of
duodenum (at least 4)
b. 4wks
on a gluten containing diet usually adequate to observe mucosal
changes
i. >10g
gluten a day
c. Patients
on steroids or other immunosuppressives may have false negative bx
results
d. Marsh
Criteria for grading Biopsies
- Initial testing should include: (Celiac Screening, CBC, Iron
Panel, Vit D, ALT, TSH)
- tTG-IgA, Total IgA
- CBC
- Iron Panel
- Vitamin D
- ALT, AST
- TSH
Treatment
Lifelong adherence to gluten free diet (GFD)
Refer to nutrition
Patient education
Follow up
TTG-IgA q6mo until normal, then annually to confirm adherence to GFD
- Annual follow up testing should include:
- tTG-IgA
- CBC
- TSH
- Other labs as needed/indicated (Vitamin & micronutrient
Deficiencies, Diabetes screening)
Outcomes:
Symptoms can resolve within a few weeks on gluten free diet
Mucosal healing and remission may take 6-12mo
Obtain TTG-IgA q6mo until normal, then check annually to assess
compliance
Increase in all cause mortality with celiac disease due to GI
malignancies (decreased risk on gluten free diet)
References:
Hill ID, Fasano A, Guandalini S, et al. NASPGHAN Clinical Report on
the Diagnosis and Treatment of Gluten-related Disorders. J Pediatr
Gastroenterol Nutr 2016; 63:156.
https://naspghan.org/files/documents/pdfs/position-papers/NASPGHAN_Clinical_Report_on_the_Diagnosis_and.28.pdf
NASPGHAN fellows review 2nd Ed.