M. Burchett, A. Gustafson, B. Griswold, N.B. McDonnell, C.A. Francomano

Presented at the annual meeting of The American Society of Human Genetics, October 10, 2006,  New Orleans, Louisiana.

ABSTRACT

The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue characterized by joint, skin and vascular abnormalities. There have been no previous reports on abnormalities of cardiovascular risk biomarkers in patients with EDS. Complete lipid profiles as well as fibrinogen and C-Reactive protein (CRP) levels were obtained on 63 consecutive patients, ages 12-61, with a diagnosis of EDS enrolled in the National Institutes of Aging protocol 2003-086 entitled “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue. � There were 50 females and 13 males in the cohort. An elevated low density protein (LDL) was seen in 37/50 females, and in 10/13 males, whereas elevated total cholesterol was seen in 7/50 females and 3/13 males. Only three persons in the cohort had a BMI > 30, suggesting that obesity was not a pervasive cause of dyslipidemia in this group of patients. Elevated triglycerides were seen in 9 subjects. There were 7 females with elevated CRP and 5 with elevated fibrinogen. The female cohort was broken down to age groups in line with National Health and Nutrition Examination Survey (NHANES III) and age specific comparisons were performed using age specific national averages for the LDL profiles. All age groups in the EDS female cohort showed a skewed distribution pattern of LDL values. The skewed pattern was most remarkable in the younger age groups: In the 12-44 age range, 50% of the patients had LDLs in the greater than 75th centile. The mean LDL for females over 20 was 128 mg/dL, which plots at 70% percentile of the national mean. These data suggest that persons with EDS are at higher than population risk for having an elevated LDL. We suggest that patients with the diagnosis be screened with a complete lipid profile starting in teenage years. The etiology and prognosis for isolated elevated LDL without elevated total cholesterol in EDS patients is unclear. Further studies, including pedigree analysis, are necessary to determine if increased cardiovascular morbidity and/or mortality segregate with EDS.