FAMILIAL COMBINED HYPERLIPIDEMIA. DIAGNOSTIC AND THERAPEUTIC CRITERIA

Familial combined hyperlipidemia (FCH) is characterized by dominantly inherited hypercholesterolemia and/or hypertriglyceridemia and elevated cardiovascular risk. Approximately 10% of families in Spain have FCH. Its molecular bases are unknown, but it is a complex genetic disease that interacts with the environment, especially with high calorie diets and obesity. Recently, a transcription factor (USF1) that could be partly responsible for the genetic component of FCH has been described. There is no genetic marker that is useful in the diagnosis of FCH, which is based on hypercholesterolemia, hypertriglyceridemia and apoB elevation. The treatment of FCH should control dyslipidemia and its associated risk factors such as hypertension and diabetes. The treatment of dyslipidemia is based on a diet low in saturated fat and achieving normal body weight. When these measures fail, pharmacological indications should be based on low-density lipoprotein (LDL)cholesterol concentrations and do not differ from those in the general population. The pharmacological treatments of choice are statins and fenofibrate or gemfibrozil when triglyceride levels exceed 500 mg/dl.