A recent study (AS Faye et al. Clin Gastroenterol Hepatol 2019; 17: 463-8) finds a weak link in the screening guidelines for celiac disease. Generally, guidelines recommend screening all symptomatic first degree relatives and consider screening of asymptomatic first-degree relatives. Yet, little is known about adherence to these guidelines.
The authors utilized emergency contact information from the electronic records of 2081 patients with biospy-diagnosed celiac disease to assess how commonly celiac disease testing occurs in patients who are first-degree relatives.
- Of the 539 relatives identified, 212 (39.3%) were tested for celiac disease including 193 of 383 (50.4%) of first-degree relatives and 118 of 165 (71.5%) of symptomatic first-degree relatives.
- Of the 383 first-degree relatives, only 116 (30.3%) had a documented family history of celiac disease.
Thus, this study shows that ~30% of symptomatic first degree relatives have not received celiac testing and that ~70% of all first-degree relatives do not have a documented family history.
My take: If a family history of celiac disease is not conveyed to health care providers, this greatly reduces the likelihood that symptomatic first degree relatives will undergo recommended screening. This weakness in screening could be overcome by either:
- changing to a policy which encourages screening all first degree relatives, whether symptomatic or asymptomatic
- leveraging technology (when feasible) to assure that family history is documented in all at risk patients
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