Practicable Only to a Degree
The authors write that, according to the ESPEGHAN guidelines, the diagnosis can be confirmed without a biopsy in selected cases in patients with the “classic gastrointestinal manifestation of the disease” (1). The original article merely says: “Histological assessment may be omitted in symptomatic patients who have high IgA anti-TG2 levels (10 times above ULN), verified by EMA positivity, and are HLA-DQ2 and/or HLA-DQ8 heterodimer positive” (1). I cannot conclude any limitation to the “classic gastrointestinal manifestation” from the original article.
Furthermore, Schuppan and Zimmer say that “testing of first-degree relatives for the HLA-DQ2/8 genotype or for anti-TG2 antibodies is recommended.” If the ESPEGHAN criteria for the screening of at-risk patients were implemented in the way described in the article, then all first-degree relatives of patients with celiac disease would have to present to a human geneticist for diagnostic evaluation. The examination of asymp-tomatic relatives for HLA DQ2/8 is a predictive genetic examination; §7 (1) of the German Law on Genetic Diagnosis [Gendiagnostikgesetz] stipulates that a human geneticist is the only proper specialist to undertake this test, as far as I understand it. Whether this is really practical in view of a prevalence of celiac disease of 0.2% seems questionable to me.
Dr. med. Stefan Razeghi
Pediatrics and Youth Medicine
Conflict of interest statement
The author declares that no conflict of interest exists.
|1.||Schuppan D, Zimmer KP: The diagnosis and treatment of celiac disease. Dtsch Arztebl Int 2013; 110(49): 835–46. VOLLTEXT|