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[Mixed dyslipoproteinemias: new therapeutic opportunities]
1Cattedra di Geriatria e Gerontologia, Università degli Studi di Bari.
Insights
Familial combined hyperlipoproteinemia (FCHL) is a common condition linked to heart disease. Elevated apolipoprotein B and small, dense LDL particles are key features, suggesting specific genetic factors contribute to this dyslipidemia.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Abstract:
Familial combined hyperlipoproteinemia (FCHL) is a dyslipidemic syndrome prevalent in patients with coronary artery disease and characterized by variable expression of hypercholesterolemia, hypertriglyceridemia in a given family, with either or both present in affected individuals. Efforts to refine the phenotype of FCHL have led to the observation that elevated levels of apolipoprotein (apo) B are commonly observed in individuals with FCHL. An increased rate of hepatic secretion of apo B associated with very low density lipoproteins in subjects with FCHL has been clearly documented. The predominance of small, dense LDL, as determined by gradient gel electrophoresis, denoted LDL subclass phenotype B, has been associated with increased apo B levels. Two genetic traits have been implicated in FCHL. The first is the predominance of small dense LDL, which segregates as a mendelian trait. The second is a mendelian locus with large effects on apo B levels. Therapy of FCHL is based on statins and fibrates, as monotherapy or given in combination.