Cardiovascular disease due to atherosclerosis is a leading cause of death around the world, including Singapore. Current treatment strategies primarily target low-density lipoprotein (LDL) cholesterol levels. Low levels of high-density lipoprotein (HDL) cholesterol and high triglyceride (TG) levels have been shown to increase the risk of coronary heart disease, but the clinical benefits of raising low HDL cholesterol have only been proven in a limited number of studies. This guide provides an approach on managing low HDL cholesterol levels in terms of lifestyle modifications and pharmacotherapy.
Coronary Disease ; prevention & control ; Drug Therapy, Combination ; Exercise ; Fenofibrate ; administration & dosage ; Humans ; Hypertriglyceridemia ; drug therapy ; therapy ; Hypoalphalipoproteinemias ; drug therapy ; therapy ; Hypolipidemic Agents ; administration & dosage ; Life Style ; Male ; Middle Aged ; Simvastatin ; administration & dosage

Tangier disease (TD) is a rare autosomal recessive disorder of lipoprotein metabolism characterized by extremely low levels of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (apo) A-I resulting in accumulation of cholesterol esters in various organs. TD is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Here, we present the first case report of a Korean patient with TD. A 45-year-old man had corneal opacity, intestinal mucosa abnormalities, and extremely low levels of HDL-C (1.8 mg/dL) and apo A-I (<10 mg/dL), consistent with a diagnosis of TD. Histologically, foamy macrophages were recognized in the submucosa of the duodenum and colon. We performed PCR-sequencing for all ABCA1 coding exons to confirm genetic abnormalities. Two novel mutations in the ABCA1 gene were identified: i.e., c.3148G>T (p.G1050X) nonsense mutation and c.3202C>T (p.R1068C) missense mutation. The c.3202C>T mutation was not found in 192 normal control alleles.
Alleles ; Apolipoprotein A-I ; Apolipoproteins ; ATP-Binding Cassette Transporters ; Cholesterol ; Cholesterol Esters ; Cholesterol, HDL ; Clinical Coding ; Codon, Nonsense ; Colon ; Corneal Opacity ; Duodenum ; Exons ; Humans ; Intestinal Mucosa ; Lipoproteins ; Macrophages ; Middle Aged ; Mutation, Missense ; Tangier Disease