What is familial hypercholesterolemia?

What is familial hypercholesterolemia?

Familial hypercholesterolemia (FH) is a group of inherited genetic defects that lead to the severe elevation of serum cholesterol concentrations.

What are the LDL cholesterol targets for patients with familial hypercholesterolemia (FH)?

For homozygous FH patients, the LDL cholesterol targets are less than 100 mg/dL for adults, less than 70 mg/dL for adults with clinical cardiovascular disease (CVD), and less than 135 mg/dL for children

What is Nord physician guide for familial hypercholesterolemia?

The NORD Physician Guide for Familial hypercholesterolemia was developed as a free service of the National Organization for Rare Disorders (NORD) and it’s medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.

Is heterozygous familial hypercholesterolemia an underrecognized cause of cardiovascular disease?

Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. CMAJ. 2006;174:1124–1129. [PMC free article][PubMed] [Google Scholar]

Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated.

What are the diagnostic criteria for functional heterozygous familial hypercholesterolemia (FH)?

Functional heterozygous FH patients with LDL cholesterol ≥ 200 mg/dL (or non – HDL cholesterol ≥ 230 mg/dL) and with risk characteristics such as ≥ 2 risk factors or high lipoprotein (a) ≥ 50 mg/dL

Is familial hypercholesterolaemia underdiagnosed and undertreated?

Nordestgaard B, Chapman M, Humphries S. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society. Eur Heart J. 2013;34(45):3478–90a.

What are the first-in-class drugs for the treatment of hypercholesterolemia?

Rader D, Kastelein J. Lomitapide and mipomersen: two first-in-class drugs for reducing low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemia. Circulation. 2014 Mar 4;129(9):1022–32. [PubMed] [Google Scholar] 40.