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.”
How is homozygous familial hypercholesterolemia treated?
Treatment of FH. People with extremely high LDL, like those with homozygous familial hypercholesterolemia, may need to undergo a treatment called LDL apheresis. This is a dialysis-like procedure that’s done every few weeks to remove cholesterol from the blood.
What is the prevalence of xanthomas and corneal arcus in familial hypercholesterolemia?
By contrast, in the Spanish Familial Hypercholesterolemia Cohort study, xanthomas and corneal arcus were present in <15% and 30% of patients with heterozygous FH (HeFH), respectively. 4 However, the prevalence of these findings increases with age in untreated individuals.
What are the health risks of hypercholesterolemia?
People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin).
What gene is affected by hypercholesterolemia?
Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor.
Is hypercholesterolemia autosomal dominant or recessive?
Familial hypercholesterolemia resulting from mutations in the LDLR, APOB, or PCSK9 gene have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder.
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.
How can I lower my LDL cholesterol with familial hypercholesterolemia?
With familial hypercholesterolemia, your doctor likely will also recommend that you take medication to help lower your LDL cholesterol levels. The specific medication or medications depend on various factors, including your risk factors, your age, your current health and possible side effects. Common medication choices include: Statins.
What are the risks of having high cholesterol with FH?
People with FH have increased blood levels of low-density lipoprotein (LDL) cholesterol, sometimes called “bad cholesterol.” Having too much LDL cholesterol in your blood increases your risk for developing coronary artery disease or having a heart attack.
