Primary Hypoalphalipoproteinemia With Significant Premature Atherosclerosis.

Primary hypoalphalipoproteinemia is typically caused by genetic disorders and is characterized by low high-density-lipoprotein cholesterol (HDL-C). Low HDL-C has been proposed to confer an increased risk of atherosclerotic cardiovascular disease; however, a causal relationship has not been determined. We describe the case of an otherwise healthy and asymptomatic 37-year-old woman with severely low HDL-C who was found to have significant coronary artery disease in whom genetic testing supported a diagnosis of Tangier disease. Current lipid management guidelines focus on optimization of total cholesterol and low-density-lipoprotein cholesterol (LDL-C), although the lipid profile of patients with primary hypoalphalipoproteinemia typically portrays favorable non-HDL levels. Clinical trials investigating medications that target low HDL-C have failed to show a clear benefit in cardiovascular outcomes. Based on current evidence, patients with genetic disorders that manifest through low HDL-C and optimal LDL-C should be managed with lifestyle modification and statin therapy.