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

^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]

2. Fasano A, Catassi C. Celiac disease.  N Engl J Med. 2012 Dec 13;367(25): 2419-26. [Medline]

Created: May 17, 2008