Patients with pseudoxanthoma elasticum (PXE) do not have dyslipidemia

Abstract Background Pseudoxanthoma elasticum (PXE) is a rare genetic disease caused by low inorganic pyrophosphate and characterized medial arterial calcification, leading to peripheral ischemic cerebral disease. Animal studies small human have reported an association between PXE dyslipidemia therefore suggest that atherosclerosis second pathway contributing cardiovascular in patients. The was however not consistent across these there are several biological hypotheses proposed where the affected gene (ABCC6) could affect cholesterol pathway: ABCC might influence HMA-CoA reductase – increase total LDL-c on one hand, but also evidence points toward of ABCC6 reversed pathway, influencing HDL-c. This study important analyze if subjects, from larges cohort world, indeed do different lipid profile compared well matched controls. Purpose To evaluate whether patients non-PXE Methods A cross-sectional patient-control done at Dutch Expertise Center for University Medical Utrecht. Patients were all diagnosed conform Plomp cirteria. control population consisted acquaintances patients, excluding first second-degree relatives. Total cholesterol, LDL-c, HDL-c triglycerides assessed both controls lipid-lowering treatment (LLT) used pre-treatment levels calculated using known effects LLT lipids. eliminate imbalances controls, we Coursened Exact Matching (CEM), investigate effect Results included 323 57 Their characteristics displayed Figure 1. After CEM 186 (weighted means: age 57.8±9.9 years, 58% females, BMI 25.5±2.9 kg/m2) 52 (age 57.3±43.1 25.5±17 left analyses. univariate, weighted regression analysis having shows differences lipids 0.22 mmol/L (p=0.299), 0.15 (p=0.524), 0.07 (p=0.314) 0.10 (p=0.433). sensitivity only crude values untreated subjects showed sginficantly lower PXE-patients. Probably due fact very healthy included. Conclusion There no HDL-c, Funding Acknowledgement Type funding sources: None.