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 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 hypercholesterolemia real?
But a new study published in the journal BMJ Evidence-Based Medicine found no evidence to support those claims. Familial hypercholesterolemia is a genetic disorder that causes people to have cholesterol levels 2-4 times higher than the average person.
What is included in genetic testing for familial hypercholesterolemia (FH)?
Genetic testing for FH includes testing for pathogenic variants in three primary genes: LDLR, APOB, and PCSK9.
What is the relationship between familial hypercholesterolemia and tendon xanthomas?
Civeira F, Castillo S, Alonso R et al. Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation. Arterioscler Thromb Vasc Biol. 2005;25:1960–5. doi: 10.1161/01.ATV.0000177811.14176.2b.
What is the prevalence of homozygous familial hypercholesterolemia (HoFH)?
The prevalence of homozygous FH (HoFH) has been estimated to be one in 1 million, based on the frequency of heterozygous FH among relatives’ survivors of MI.[12] However, a recent analysis established the prevalence of molecularly defined HoFH as being one in 300,000 individuals.[13] Molecular Defects
What is the role of lipoprotein (A) levels in familial hypercholesterolaemia?
Alonso R, Andres E, Mata N et al. Lipoprotein(a) levels in familial hypercholesterolaemia: an important predictor for cardiovascular disease independent of the type of LDL-receptor mutation. J Am Coll Cardiol. 2014;63:1982–9. doi: 10.1016/j.jacc.2014.01.063.