Acute health events in adult patients with genetic disorders: The Marshfield Epidemiologic Study Area

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We ascertained and reviewed acute health events occurring in 2003 among patients age 18 and greater with well-defined single gene, chromosomal, and selected multifactorial conditions within the Marshfield Epidemiologic Study Area.


Of 47,077 adult Marshfield Epidemiologic Study Area Central cohort members, 1831 (3.9%) had been given at least one of 71 ICD-9 codes appropriate for genetic diagnoses of interest. Physician review narrowed this to 591 (1.3%) validated patients for the study. Of the 591, 527 (89.2%) patients registered 6,849 visits, which were manually reviewed to delineate acute, relevant health events in the urgent care and primary care provider setting.


A total of 244 acute relevant health events among 126 patients corresponding to 58 different genetic conditions were observed. Acute relevant health events corresponded to 3.4% of the total health events in patients identified with genetic problems. Categories of genetic conditions with the highest frequencies of acute relevant health events included chromosomal and microdeletion syndromes (21.3%), hematologic disorders (11.5%), muscular dystrophies (8.6%), and connective tissue disorders (10.2%).


These data have multiple applications and implications in addressing the natural history, long-term medical needs and financial impact of adult patients with genetic conditions.

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