Abstract 567: Genetic and Clinical Heterogeneity of Marked High Density Lipoprotein Deficiency

Aim: Our goal was to assess the population prevalence, genetics and clinical phenotypes of subjects with marked HDL deficiency. Methods: 200 subjects (26% female, mean age 52 years) with serum HDL-C < 20 mg/dL, fasting triglycerides (TG) < 600 mg/dL, C reactive protein (CRP) < 10 mg/L, myeloperoxidase (MPO) < 1000 pmoles/L, HbA1c < 8.0%, liver transaminases < 120 U/L, and not taking anabolic steroids were studied. Lipids, inflammation markers, liver enzymes, and HDL particles were assessed; and sequencing of 31 lipid metabolism genes including ABCA1, APOA1, LCAT, and LPL was done. Results: HDL-C < 20 mg/dl was observed in 473 (0.35%) men (n=135,912) and 140 (0.089%) women (n=160,964) in our population over one year. In this low HDL group, 6.4% had elevated CRP, 4.4% had abnormal liver function, 4.2% had elevated HbA1c, 1.0% had elevated MPO, 0.5% had elevated TG, and 11.5% of men were taking anabolic steroids. These subjects were excluded. The 200 subjects studied had plasma values of LDL-C 102, HDL-C 15,...