Turner syndrome linked to heightened risk of celiac disease

Last Updated: 2016-01-08

By Rita Buckley

NEW YORK (Reuters Health) - Females with Turner syndrome have a heightened risk of celiac disease, and physicians should provide early screening for it in those who have the chromosome abnormality, researchers say.

Dr. Karl Marild from the Norwegian Institute of Public Health in Oslo, Norway, and colleagues conducted a Swedish nationwide case-control study of 7,548 females with biopsy-verified celiac disease and more than 34,000 population-based matched controls born between 1973 and 2006.

Celiac disease was defined as having small-intestinal villous atrophy (Marsh stage 3), the researchers note in Pediatrics, online January 8. Turner syndrome was defined as having a relevant ICD code.

Among females with celiac disease, 20 had a diagnosis of Turner syndrome (0.26%) compared to 21 controls (0.06%). This yielded a significantly increased odds ratio (OR, 3.29) for celiac disease among patients with Turner syndrome.

The odds of celiac disease in those with Turner syndrome was non-significantly increased in those <5 years of age at the time of celiac disease diagnosis. In females aged >10 years at diagnosis, the increase in odds was significant (OR, 5.50).

The association between Turner syndrome and celiac disease was largely unaffected by concurrent type 1 diabetes.

Dr. Marild told Reuters Health by email that the study's results support current recommendations for an active case-finding approach to identify celiac disease in patients with Turner syndrome.

Dr. Lee Bass, director of Endoscopy, Gastroenterology, Hepatology and Nutrition at the Ann & Robert H. Lurie Children's Hospital of Chicago, agreed.

"Screening in this specific population can help ensure timely diagnosis, which is critical to reduce and prevent some of the complications associated with celiac disease," Dr. Bass, who was not involved in the study, told Reuters Health by email.

According to Dr. Bass, Turner syndrome and celiac disease share some symptoms, such as stunted growth. This can lead to potential delays in diagnosing celiac disease, he said.

Dr. David W. Cooke, clinical director of the Division of Pediatric Endocrinology at Johns Hopkins University School of Medicine in Baltimore, Maryland, said the study confirms what we already know, but has the benefit of being very large and population-based.

While it's possible that the homogeneity of the population may limit the study's generalizability, Dr. Cooke, who was not involved in the research, told Reuters Health that the findings are in line with those from other reports.

SOURCE: bit.ly/1S8g4fQ

Pediatrics 2016.