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

Abstract

Purpose: 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, 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. 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. Genet Med 2006:8(8):474-490.

The impact of single gene and chromosomal disorders on hospital admissions in an adult population

“…These data are similar to that reported by Day and Holmes (1973) who found that 1.5% of adult admissions were for patients with genetic disease, and Giampietro et al (2006) who reported that 1.2% of patients had a single gene or chromosomal disorder and accounted for 1.8% of admissions. Thus, the proportion of adult hospital admissions due to single gene and chromosomal disorders appears to be consistent across different populations, over time, and in different clinical settings; as Day and Holmes (1973) reported on inpatient and outpatient data from Massachusetts during 1970, and Giampietro et al (2006) collected data from acute health care settings in Wisconsin in 2003. In addition, these data are consistent with a population prevalence of single gene and chromosomal disorders of 0.5-1.0%, as has been reported for Caucasian populations (Baird et al 1988;Carter, 1977;Trimble and Doughty 1974).…”

“…Our data and those of Giampietro et al (2006) also identified a number of the same diseases as being significant contributors to hospital admissions. For example, some of the most common disorders in the Marshfield study were hematological diseases (e.g., von Willebrand disease, Factor V Leiden), which accounted for nearly 22% of patients; chromosomal syndromes (e.g., Down syndrome and sex chromosome abnormalities) (11% of patients); and renal disorders (predominantly CKD) (7% of patients).…”

“…This is consistent with our data, which identified cystic kidney disease, Down syndrome, and von Willebrand disease as among our most expensive disorders (Table 4). Other disorders identified by both this study and Giampietro et al (2006) as affecting significant numbers of patients included muscular and metabolic disorders (Tables 1 and 5). However, there were also some clear differences, with 12% of patients in the Marshfield population admitted for disorders of the eye, compared to 3% in our population.…”

“…However, there were also some clear differences, with 12% of patients in the Marshfield population admitted for disorders of the eye, compared to 3% in our population. This can be explained primarily by the exclusion of Duane syndrome from our sample, as other disorders identified by Giampietro et al (2006) such as macular dystrophy and pigmentary retinopathies were also represented in our data. Connective tissue disorders also accounted for a larger proportion of patients in the Marshfield population (5.7%) than in this study, although Marfan syndrome was relatively common in both populations, accounting for approximately half of the admissions in the ICD-10 code Q87 in our sample (Table 5).…”

“…However, their sample size was small (200 inpatient and 200 outpatient admissions) and represented admissions during 20 days in 1970. Giampietro et al (2006) investigated acute health events identified in emergency department, urgent care and primary care settings of 527 adult patients with single gene, chromosomal and syndromic conditions in 2003. This study found that 1.2% of the total adult patients in the catchment area had a single gene or chromosomal disorder, and these patients accounted for 1.8% of the total outpatient visits during the study period (Giampietro et al 2006).…”