Optimal management of familial hypercholesterolemia: treatment and management strategies

Abstract

Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This will lead to elevated levels of total and low-density lipoprotein cholesterol, which may in turn lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. Different options for the treatment of affected patients are now available. Diet therapy, pharmacologic therapy, lipid apheresis, and liver transplantation are among the various treatments. We clinically review the treatment and management strategies for the disease in order to shed light on the optimal management of familial hypercholesterolemia.

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

“…Coronary artery bypass surgery, aortic valve replacement or a combined heart transplant should be considered according to clinical context prior to liver transplantation [168,169]. Partial ileal bypass should be considered in heterozygous patients who are drug-intolerant [170].…”

Drug-eluting Stents in Premature Coronary Disease in Young People with Homozygous Familial Hypercholesterolemia and Prior Liver Transplant. A Report of Two Cases

“…Diet, pharmacologic therapy, lipid apheresis, and some surgical techniques, such as portacaval shunt surgery which limits the absorption of cholesterol and promotes the loss of bile acids, and liver transplant are among the different treatments. Liver transplant to make functional LDLRs available is an alternative for the most serious cases [29].…”

“…The transplanted liver retains the specific qualities of the donor and therefore the transplant can be a source of abundant functional LDL receptors, and may lead to a cure of the hypercholesterolemia [29]. Progress in experience of the transplant groups, long-term immunosuppression, improvements in surgical techniques and immunologic methods have yielded favorable results following transplant both in the adult and the pediatric populations [32,33].…”

A 3-Year-Old Familial Homozygous Hypercholesterolemia Diagnosed by Xanthomas

“…Karaciğerde 700'den fazla LDL reseptör gen mutasyonu FH'ye neden olmaktadır. 1,3 Gen mutasyonu sonucunda oluşan LDL-K reseptöründeki genetik kusurlar nedeni ile LDL-K'nin hücresel alımında ve yıkımında sorun oluş- 4 Yük-selen serum LDL-K ksantoma ve büyük aterom plakların oluşumuna neden olmaktadır. Ksantomlar diz-dirsek-aşil tendonu, el ve diğer vücut alanlarında görülebilen klinik olarak şüphe düşün-dürecek tanı kriterleridir.…”