Latest evidence that celiac disease runs in families prompts Mayo Clinic doctors to call for more screening
A “high prevalence” of celiac disease was found among screened first-degree relatives of patients with the condition, according to findings recently published in Mayo Clinic Proceedings. The findings prompted researchers to encourage all parents, children and siblings of patients with celiac disease to be screened for the disorder.
“Recent data suggest that majority of celiac disease patients are asymptomatic or have non-classic presentation, confirming the need of having a low screening threshold for celiac disease,” Shilpa S. Nellikkal, MBBS, of the division of pediatric gastroenterology and hepatology at the Mayo Clinic in Rochester, Minnesota, and colleagues wrote.
“A better detection rate of celiac disease could conceivably prevent long-term complications like nutritional deficiencies, development of new autoimmune conditions, and small bowel malignancy known to occur in undiagnosed celiac disease cases,” they added.
Researchers conducted a retrospective cohort study of 104 patients with celiac disease. Nellikkal and colleagues found that 160 of the 360 first-degree relatives (62% female) tested were diagnosed with celiac disease within a median of about 6 months after a linked diagnosed index case patient was diagnosed. All 160 relatives had positive anti-tissue transglutaminase titers. Titers of 2.75 or greater than the upper limit of normal identified villous atrophy in relatives with 87% sensitivity, 82% specificity and a positive predictive value of 95%.
In addition, among 148 diagnosed first-degree relatives, nine had classic celiac disease symptoms, 42 had no symptoms and 97 had nonclassic symptoms. Among 155 of the 160 relatives, 12 had a Marsh score of 1, 66 had a Marsh score of 3b, and 77 had a Marsh score of 3.
Imad Absah, MD, a Mayo Clinic pediatric gastroenterologist and study co-author, discussed the small study cohort.
“We did acknowledge that the sample size and the proactive screening can be a limiting factor and that further prospective studies are needed,” he told Healio Primary Care. “On the other hand, our cohort included 477 first-degree relatives and we screened 79% of them, suggesting that proactive and screening regardless of symptoms identified many patients with celiac that would have been missed. So, clinicians should take that into consideration and ask about family history of celiac disease in first-degree relatives.” – by Janel Miller
Disclosures: The authors report no relevant financial disclosures.