Familial hypercholesterolemia

Abstract

Heterozygous familial hypercholesterolemia is a common, severe form of elevated plasma, low-density lipoprotein (LDL) cholesterol. Familial hypercholesterolemia is under-recognized and under-treated despite well-known benefits from available lipid-lowering medications. To help address these problems, the humanitarian MEDPED (Make Early Diagnoses, Prevent Early Deaths) organization was developed as a means to find and help persons with familial hypercholesterolemia all over the world. Although some patients with familial hypercholesterolemia can be treated adequately with a statin alone, many require aggressive treatment with a combination of drugs, including a statin, bile acid sequestrant, and niacin to reach LDL goals. Such treatment has resulted in regression of angiographically monitored coronary lesions in patients with familial hypercholesterolemia.

Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

“…In a large group of Utah FH patients, prevalence was approximately equal to the patient's age minus 10, so that at age 30 years, prevalence is approximately 20 percent. 49 Tendon xanthomas are rare in younger children. 50 Achilles tendon xanthomas may be associated with tendinitis which occurs about six times more frequently among individuals with FH than among those in the general population.…”

Rationale, design and preliminary results of the GALIPEMIAS study (prevalence and lipid control of familial dyslipidemia in Galicia, northwest Spain)

“…An unknown proportion of these cases are because of inherited disorders or familial dyslipidemia, part of which are familial dyslipidemia with an autosomal dominant inheritance pattern (FDAD) as familial hypercholesterolaemia (FH), familial combined hyperlipidaemia (FCH) or familial hypertriglyceridaemia (FHTG). The natural history of these familial dyslipidemias with FDAD is linked to the development of ASCVD and even premature CHD . However, the proportion of patients with ASCVD who have some form of familial dyslipidemia with FDAD is unknown.…”