Acute health events in adult patients with genetic disorders: the Marshfield Epidemiologic Study Area.
OBJECTIVE
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.


METHODS
Of 47,077 adult Marshfield Epidemiologic Study Area Central cohort members, 1,831 (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.


RESULTS
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%).


CONCLUSIONS
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.
Giampietro
Philip F
PF
Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA.
Greenlee
Robert T
RT
McPherson
Elizabeth
E
Benetti
Lorelle L
LL
Berg
Richard L
RL
Wagner
Stephen F
SF
D000208:Acute Disease; D000328:Adult; D015331:Cohort Studies; D004632:Emergency Medical Services; D005260:Female; D030342:Genetic Diseases, Inborn / Q000150:complications* / Q000453:epidemiology*; D006801:Humans; D008297:Male; D011320:Primary Health Care; D012307:Risk Factors; D014922:Wisconsin / Q000453:epidemiology