Celiac Disease More Common in Patients With Turner Syndrome

Women and girls with Turner syndrome (TS) are significantly more likely to have celiac disease (CD) than their peers with no sex chromosome anomalies, Scandinavian investigators report.

A review of pathology records on 7548 females with biopsy-confirmed CD in Sweden showed that 20 of the patients (0.26%) also had a diagnosis of TS.

In contrast, among 34,492 age- and sex-matched controls in the general Swedish population, only 21 (0.06%) had a Turner syndrome diagnosis, translating into an odds ratio (OR) for celiac disease of 3.29 (95% confidence interval [CI], 1.94 - 5.56), report Karl Mårild, MD, PhD, from the Norwegian Institute of Public Health in Oslo, and colleagues.

"Our results are consistent with the previously reported positive association between CD and TS but add to the literature by providing population-based risk estimates from a population consisting of both in- and outpatients with CD. Our data support the current recommendation of active case-finding for CD in TS," they write in an article published online January 8 in Pediatrics.

Previous reports suggesting an association between Turner syndrome (partial or complete loss of an X chromosome in females) and CD were based largely on case series from specialty centers, and estimates of the prevalence of CD in this population have varied significantly, ranging from 2% to 9%, the investigators note.

To get a better picture of the association between TS and CD, they queried Sweden's comprehensive computerized registries for data from 28 pathology departments to construct a cohort of women and girls with CD, and then matched each with up to five control patients selected from the Swedish Total Population Register.

The researchers matched control patients by sex, age at celiac diagnosis, calendar year of birth, and county of residence. Cases and control patients were born from 1973 through 2006.

The authors identified patients with TS using appropriate International Classification of Diseases codes from revisions 8, 9, or 10.

In addition to the overall odds ratio (OR) for CD in females with TS noted before, the investigators found that the risk ranged from an OR of 2.16 (95% confidence interval [CI], 0.91 - 5.11) from birth to age 5 years to an OR of 5.50 (95% CI, 1.53 - 19.78) for females diagnosed with CD after age 10 years.

Although women with TS are more prone to type 1 diabetes than women in the general population, the association between TS and CD remained essentially unchanged when the researchers excluded cases and control patients with a diagnosis of type 1 diabetes from the analysis (OR, 3.32; 95% CI, 1.96 - 5.62).

"Regrettably, we lack data on clinical characteristics, including data indicating whether patients with CD were symptomatic or asymptomatic. In addition, in Sweden, the threshold for testing individuals with TS for CD is low. We therefore acknowledge that our estimates might have been somewhat influenced by surveillance bias," the authors acknowledge.

The study was supported by an unrestricted grant from the OAK Foundation in Geneva, Switzerland. The authors have disclosed no relevant financial relationships.

Pediatrics. Published online January 8, 2016. Abstract

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