Definite diagnosis of CD

History and clinical presentation compatible with CD

1. Serological screening compatible with CD: antigliadin antibody (AGA) antiendomysium antibody (AEA), tissue transglutaminase (tTG) antibody.

2. Histological findings compatible with CD: villous atrophy

3. Obvious clinical and serological response to a gluten free diet (GFD)

4. Subject >2 years old

5. Rule out other clinical conditions mimicking CD

Possible Clinical Manifestations of CD

A- Typical symptoms

• Chronic diarrhea

• Failure to thrive

• Abdominal distention

B- Atypical symptoms

I- Secondary to malabsorption

• Sideropenic anemia

• Short stature

• Osteopenia

• Recurrent abortions

• Hepatic steatosis

• Recurrent abdominal pain

• Gaseousness

II- Independent of malabsorption

• Dermatitis herpetiformis

• Dental enamel hypoplasia

• Ataxia

• Alopecia

• Primary biliary cirrhosis

• Isolated hypertransaminasemia

• Recurrent aphthous stomatitis

• Myasthenia gravis

• Recurrent pericarditis

• Psoriasis

• Polyneuropathy

• Epilepsy (with or without intracranial calcifications)

• Vasculitis

• Dilatative cardiomyopathy

• Hypo/hyperthyroidism

Serologic Screening Tests for the Diagnosis of CD

Test	Sensitivity	Specificity	PPV	NPV
AGA IgG	57–100	42–98	20–95	41–88
AGA IgA	53–100	65–100	28–100	65–100
AEA IgA a	75–98	96–100	98–100	80–95
tTG IgA	90-98	95-97

^a Patients older than 2 years.

Abbreviations: AEA, antiendomysium antibody; AGA, antigliadin antibody; CD, celiac disease; ESPGHAN, European Society of Pediatric Gastroenterology, Hepatology, and Nutrition; GFD, gluten-free diet; Ig, immunoglobulin; tTG, tissue transglutaminase; PPV, positive predictive value; NPV, negative predictive value.

 

References:

1. Fasano A, Catassi C. Current approaches to diagnosis and treatment of celiac disease: an evolving spectrum. Gastroenterology. 2001 Feb;120(3):636-51. [Medline]