Low Rates of Screening for Celiac Disease Among Family Members.

BACKGROUND & AIMS: Given the increased morbidity and potential mortality of celiac disease, guidelines recommend screening high-risk individuals, including first-degree relatives of patients. We assessed how commonly celiac disease testing occurs in these individuals and identified factors that influence testing.

METHODS: Relatives of 2081 patients with biopsy-diagnosed celiac disease and followed up at Columbia University Medical Center were identified using relationship inference from the electronic health record-a validated method that uses emergency contact information to identify familial relationships. We manually abstracted data from each record and performed univariate and multivariate analyses to identify factors associated with testing relatives for celiac disease.

RESULTS: Of 539 relatives identified, 212 (39.3%) were tested for celiac disease, including 50.4% (193 of 383) of first-degree relatives and 71.5% (118 of 165) of symptomatic first-degree relatives. Of the 383 first-degree relatives, only 116 (30.3%) had a documented family history of celiac disease. On multivariate analysis, testing was more likely in adults (odds ratio [OR], for 18-39 y vs younger than 18 y, 2.27; 95% CI, 1.12-4.58); relatives being seen by a gastroenterologist (OR, 15.16; 95% CI, 7.72-29.80); relatives with symptoms (OR, 3.69; 95% CI, 2.11-6.47); first-degree relatives of a patient with celiac disease (OR, 4.90, 95% CI, 2.34-10.25); and relatives with a documented family history of celiac disease (OR, 11.9, 95% CI, 5.56-25.48).

CONCLUSIONS: By using an algorithm to identify relatives of patients with celiac disease, we found that nearly 30% of symptomatic first-degree relatives of patients with celiac disease have not received the tests recommended by guidelines. Health care providers should implement strategies to identify and screen patients at increased risk for celiac disease, including methods to ensure adequate documentation of family medical history.