Statins in homozygous familial hypercholesterolemia

  title={Statins in homozygous familial hypercholesterolemia},
  author={Adrian D Marais and Dirk Jacobus Blom and Jean Catherine Firth},
  journal={Current Atherosclerosis Reports},
Homozygous familial hypercholesterolemia is a rare disorder resulting in severe premature atherosclerosis. Drug therapy was previously viewed as inadequate for control of the dyslipidemia, so portacaval shunting, plasmapheresis, and liver transplantation were undertaken to treat this condition. Despite these drastic measures, additional cholesterol-lowering treatment may still be required. Furthermore, there is a need for pharmacologic control until additional measures can be undertaken. The… 
Lipoprotein metabolism in familial hypercholesterolemia
Current Treatment of Famil ial Hypercholesterolaemia
There is a 20-fold increase in risk of premature coronary heart disease (CHD) in untreated patients compared to control and HeFH patients usually develop CHD before age 55 and 60 respectively for men and women without treatment.
Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment.
Current management of severe homozygous hypercholesterolaemias
Patients with severe homozygous hypercholesterolaemia illustrate the natural history of atherosclerosis within a condensed timeframe as effective cholesterol-lowering treatment started in early childhood is essential to prevent onset of life-threatening atherosclerotic involvement of the aortic root and valve, and the coronary arteries.
Review of the scientific evolution of gene therapy for the treatment of homozygous familial hypercholesterolaemia: past, present and future perspectives
The genetic basis of the FH disease is reviewed, paying special attention to the severe HoFH as well as the challenges in its diagnosis and clinical management, and the current therapies for this disease are discussed.
Treatment of homozygous familial hypercholesterolemia
Familial hypercholesterolemia results from gene mutations approximately halving the number of functional LDL receptors in heterozygotes and a greater lack in homozygotes, and inhibitors of LDL synthesis, lomitapide and mipomersen, are new therapeutic options.
Reduction in Mortality in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in Lipid-Lowering Therapy
Lipid-lowering therapy is associated with delayed cardiovascular events and prolonged survival in patients with homozygous familial hypercholesterolemia, and this occurred despite a mean reduction in low-density lipoprotein cholesterol.
Evinacumab: a new option in the treatment of homozygous familial hypercholesterolemia
Treatment of HoFH using a monoclonal antibody targeting ANGPTL3 with evinacumab halves LDL-C levels in HoFH patients by an LDLR-independent mechanism is indicated, indicating a promising improvement in the management of these patients.
Nuevos fármacos para el tratamiento de la hipercolesterolemia
Long-term studies are needed to evaluate the safety, effectiveness and impact on cardiovascular risk reduction of new lipid-lowering agents developed to reduce LDL-cholesterol in patients with severe hypercholesterolemia and statin-intolerant patients.


Treatment of homozygous familial hypercholesterolaemia with probucol.
Probucol appears to be the most satisfactory treatment for homozygous familial hypercholesterolaemia currently available and was well tolerated by child and adult patients.
A host of hypercholesterolaemic homozygotes in South Africa.
The prevalences of homozygotes and heterozygotes with familial hypercholesterolaemia in Transvaal Afrikaners, calculated from this group of patients, were 1 in 30,000 and 1 in 100 respectively, which are the highest ever reported and may help to explain why South African whites have the highest death rate from coronary heart disease in the Western world.
Portacaval shunt in patients with familial hypercholesterolemia.
Portacaval shunt has been effective therapy for patients with FH who were refractory or intolerant to medical treatment; it should be performed before the development of irreversible cardiovascular damage.
Efficacy of mevinolin as adjuvant therapy for refractory familial hypercholesterolaemia.
The results indicate that mevinolin provides a safe and highly effective means of reducing LDL levels in patients with heterozygous familial hypercholesterolaemia refractory to conventional treatment but is less useful in homozygotes.
Atorvastatin: an effective lipid-modifying agent in familial hypercholesterolemia.
Atorvastatin is a powerful and safe lipid-modifying agent for LDL cholesterol; it also modifies HDL cholesterol and triglyceride concentrations, and may suffice as a single agent for many subjects with heterozygous FH.