What is familial hypercholesterolemia?

What is familial hypercholesterolemia?

Familial hypercholesterolemia (FH) is a genetic disorder that affects about 1 in 250 people and increases the likelihood of having coronary heart disease at a younger age. People with FH have increased blood levels of low-density lipoprotein (LDL) cholesterol, sometimes called “bad cholesterol.”

What are the diagnostic criteria for familial hypercholesterolaemia?

Familial hypercholesterolaemia is suspected in adults if the total cholesterol is 7.5 mmol/L or greater, or the LDL cholesterol (a particular type of cholesterol) is 4.9 mmol/L or greater. In children (between the ages of 10 and 15 years) the levels are 6.7 mmol/L and 4.0 mmol/L respectively. This…

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.

What are the treatment goals for familial hypercholesterolemia (FH)?

The overall goal of treatment for familial hypercholesterolemia (FH) is to lower the risk for atherosclerosis (build-up of plaque in the arteries) by lowering the LDL cholesterol levels in the blood stream.

What are the treatment options for familial hypercholesterolemia (FH)?

Medicines, such as statins, are needed to help control cholesterol levels. If you have FH, finding the disorder early and treating it can reduce your risk of heart disease by about 80%. If your child is diagnosed with FH, statin therapy in childhood may be required, often starting by age 8-10.

Is familial hypercholesterolaemia underdiagnosed and undertreated?

Nordestgaard BG, Chapman MJ, Humphries SE et al. 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;34:3478–90a. doi: 10.1093/eurheartj/eht273.

What is heterozygous hypercholesterolemia (FH)?

Familial hypercholesterolemia (FH) is usually inherited in an autosomal dominant manner (in which case it is referred to as heterozygous FH). Individuals inherit two copies of each gene (one from each parent). In an autosomal dominant condition, having only one abnormal (mutated) copy of the gene is sufficient to cause the condition.

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