Coronary heart disease (CHD) is the leading cause of death in America. CHD is multifactorial, and low plasma high-density lipoprotein cholesterol (HDL-C) levels are among the most common biochemical abnormalities observed in CHD patients. The mechanisms controlling plasma HDL-C levels are poorly understood. However, several groups recently reported that mutations at the ATP-binding cassette transporter 1 gene (ABC1) are responsible for a rare disorder known as Tangier disease, which is characterized in the homozygous state by the virtual absence of circulating plasma HDL. This new finding represents a major breakthrough in our knowledge of lipoprotein metabolism and, more specifically, the reverse cholesterol transport. This information could lead to a more precise assessment of the genetic predisposition to CHD as well as to new therapeutic tools to prevent and treat CHD.
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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
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Article Synopsis
- Low HDL-cholesterol and corneal opacity are linked to diseases like fish-eye disease and familial LCAT deficiency, with diagnosis typically requiring both clinical and biochemical tests, particularly LCAT activity, which isn't accessible in all clinics.
- A case study revealed a patient with compound heterozygous FED whose CE/TC ratio was normal, contrasting with the expectation of low levels due to LCAT gene variants.
- The patient showed 20% LCAT α-activity, which is enough to normalize their CE/TC ratio but insufficient to prevent corneal opacity, highlighting a distinction in LCAT activity's effects on disease symptoms.
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