Development of coronary heart disease in familial hypercholesterolemia.

Abstract

From these data, we can assume that coronary artery stenosis detectable by angiography will occur after 17 and 25 years of age in male and female heterozygotes, respectively, and the treatment of heterozygotes with lipid-lowering drugs can be delayed until late adolescence. (Circulation 1989;79:225-332) F amilial hypercholesterolemia (FH) is a common autosomal dominant disorder caused by a mutation of the gene for the low-density lipoprotein (LDL) receptor.1 FH is frequently associated with premature coronary heart disease (CHD), and the rate of death from CHD among heterozygotes is several times higher than that among the general population.1-4 Homozygous patients do not usually survive to reach the age of 30,1,5 whereas the mean age at death for male and female heterozygotes is 54 and 65,4,6,7 respectively. There are no data, however, reporting when FH patients develop coronary heart disease documented by coronary angiography. The National Institutes of Health Consensus Development Conference on lowering cholesterol to prevent heart disease has recommended that strict dietary intervention is indicated for children with a blood cholesterol level above 200 mg/dl and that nonresponders should be considered for treatment with a lipid-lowering agent.

A novel approach to screening for familial hypercholesterolemia in a large public venue

“…Familial hypercholesterolemia (FH) is a group of genetic forms of high cholesterol caused from mutations in genes in the low density lipoprotein recycling pathway that lead to a twofold increased level of serum low-density lipoprotein (LDL), increased risk of atherosclerosis, and ultimately negative cardiac events (Hobbs et al 1992;Goldstein et al 2001;Goldberg et al 2011). Furthermore, if untreated, individuals with FH have up to a 22-fold increased risk for coronary artery disease and a 4-13-fold increased risk to die from cardiovascular disease in which 85% of males and 50% of females will suffer a coronary event before the age of 65, leading to a 20-year reduction in life expectancy relative to the general population (Miettinen and Gylling 1988;Hirobe et al 1982;Mabuchi et al 1989;Group. 1991;WHO.…”

Imaging the Atherosclerosis with 64-Detector Row Computed Tomography in Homozygous Familial Hypercholesterolemia

“…Case 1 (Figure 2) Case 2 (Figures 3(a), (b) the higher risk and fatality of CVD in subjects with hmzFH warrants [4][5][6][7] early and regular screening of CVD in childhood. CVD monitoring at regular intervals using noninvasive methods was recommended [9].…”

“…Patients with homozygous familial hypercholesterolemia (hmzFH) develop cutaneous xanthomas in childhood [1,4,5]. Premature accelerated atherosclerotic lesions in coronary and aortic valve in subjects with hmzFH exhibit a significantly increased risk of cardiac death, MI or need of vascular intervention before age of 20 years [1,[4][5][6][7].…”

“…The higher risk and fatality of cardiovascular disease (CVD) in subjects with hmzFH warrants [4][5][6][7] early screening of CVD in childhood. Coronary artery calcifycation on electron beam tomography was found to be increased in familial hypercholesterolemia subjects [2,3].…”

Homozygous Familial Hypercholesterolemia: Case report and Review of Literature

“…[2][3][4] The incidence of acute myocardial infarction (MI) in FH patients' increases with the increasing age. 5,6 Management of HoFH patients require lifestyle modifications and medical therapy. If these do not work (as in most cases it does not), LDL apheresis and orthotopic liver transplant (OLT) are the only alternatives presently available, in the treatment of HoFH.…”