title: Diagnosis and treatment of high density lipoprotein deficiency.
abstract: Low serum high density lipoprotein cholesterol level (HDL-C) <40 mg/dL in men and <50 mg/dL in women is a significant independent risk factor for cardiovascular disease (CVD), and is often observed in patients with hypertriglyceridemia, obesity, insulin resistance, and diabetes. Patients with marked deficiency of HDL-C (<20 mg/dL) in the absence of secondary causes are much less common (<1% of the population). These patients may have homozygous, compound heterozygous, or heterozygous defects involving the apolipoprotein (APO)AI, ABCA1, or lecithin:cholesterol acyl transferase genes, associated with apo A-I deficiency, apoA-I variants, Tangier disease , familial lecithin:cholesteryl ester acyltransferase deficiency, and fish eye disease. There is marked variability in laboratory and clinical presentation, and DNA analysis is necessary for diagnosis. These patients can develop premature CVD, neuropathy, kidney failure, neuropathy, hepatosplenomegaly and anemia. Treatment should be directed at optimizing all non-HDL risk factors.
authors: Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging at Tufts University and Tufts University School of Medicine, Boston, MA; Boston Heart Diagnostics, Framingham, MA. Electronic address: ernst.schaefer@tufts.edu.
authors: Ernst J
authors: EJ
authors: Schaefer
authors: Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging at Tufts University and Tufts University School of Medicine, Boston, MA.
authors: Pimjai
authors: P
authors: Anthanont
authors: Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging at Tufts University and Tufts University School of Medicine, Boston, MA; Boston Heart Diagnostics, Framingham, MA.
authors: Margaret R
authors: MR
authors: Diffenderfer
authors: Boston Heart Diagnostics, Framingham, MA.
authors: Eliana
authors: E
authors: Polisecki
authors: Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging at Tufts University and Tufts University School of Medicine, Boston, MA; Boston Heart Diagnostics, Framingham, MA.
authors: Bela F
authors: BF
authors: Asztalos
mesh_terms: D019468:Disease Management; D006801:Humans; D052456:Hypoalphalipoproteinemias / Q000175:diagnosis / Q000209:etiology / Q000628:therapy
keywords: Genetic dyslipidemias; HDL; HDL-C; High-density lipoproteins; Lipoproteins