[Prevention of coronary heart disease in familial hypercholesterolemia].Ther Umsch. 1994 Oct; 51(10):671-6.TU
Familial forms of isolated hypercholesterolemia are inherited autosomal-dominantly and are caused by defects of the low-density lipoprotein (LDL) receptor protein or its ligand, the apolipoprotein B-100, the exclusive apolipoprotein moiety of the LDL particles. Mutations at the LDL receptor gene locus (more than 150 different mutations have been described up to now) lead to familial hypercholesterolemia (FH); the only mutation at the apolipoprotein B-100 gene locus described in detail so far leads to the so-called familial defective apolipoprotein B-100 (FDB). Both lipid disorders are characterized by an increased risk for premature atherosclerosis involving primarily the coronary arteries. An increased risk for coronary heart disease can be expressed statistically by the excess mortality. In particular, individuals between the age of 20 and 59 are affected by an excess mortality; coronary deaths are approximately 100 times more frequent in patients between 20 and 39 with familial forms of hypercholesterolemia than within the normal population. On the other hand, in patients with myocardial infarctions before the age of 60, the diagnosis of FH is approximately 20 to 30 times more frequent than within the normal population. A regression of cardiovascular lesions subsequent to an intensive lipid-lowering therapy has clearly been demonstrated in patients with familial forms of hypercholesterolemia. Because of the serious prognosis of untreated familial forms of isolated hypercholesterolemia with respect to longevity, it is important to identify patients and their relatives with FH and FDB as early as possible and to treat them, besides a lipid-lowering diet, intensively with lipid-lowering drugs.