What is Familial Hypercholesterolemia?
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**What is Familial Hypercholesterolemia?**
**Question: What is Familial Hypercholesterolemia (FH)?**
**Answer:** Familial hypercholesterolemia (FH) is a genetic condition that causes high levels of low-density lipoprotein (LDL) cholesterol, also known as “bad cholesterol.” It is an inherited condition, meaning it is passed down from parents to children.
**Question: What causes Familial Hypercholesterolemia?**
**Answer:** FH is caused by mutations in genes involved in cholesterol metabolism, primarily the LDLR gene. These mutations prevent the body from removing LDL cholesterol from the blood effectively.
**Question: What are the symptoms of Familial Hypercholesterolemia?**
**Answer:** Most people with FH do not experience any symptoms in childhood or adolescence. However, as they get older, they may develop:
* High cholesterol levels
* Deposits of cholesterol (tendon xanthomas) on tendons, especially on the Achilles tendons and around the elbows and knees
* Deposits of cholesterol (xanthelasma) around the eyelids
* Chest pain or heart attack at an early age (before 60 years old)
**Question: How is Familial Hypercholesterolemia diagnosed?**
**Answer:** FH is diagnosed based on:
* Family history of high cholesterol or premature heart disease
* Physical exam findings, such as tendon xanthomas or xanthelasma
* Blood tests showing high LDL cholesterol levels (often over 190 mg/dL) and low levels of high-density lipoprotein (HDL) cholesterol (“good cholesterol”)
* Genetic testing to confirm the presence of FH-causing gene mutations
**Question: What are the risks associated with Familial Hypercholesterolemia?**
**Answer:** FH increases the risk of developing:
* Atherosclerosis (narrowing and hardening of arteries)
* Heart attack
* Stroke
* Peripheral artery disease
**Question: How is Familial Hypercholesterolemia treated?**
**Answer:** Treatment for FH includes:
* Lifestyle modifications: healthy diet, regular exercise, and quitting smoking
* Medications: statins, PCSK9 inhibitors, bile acid resins
* In severe cases, surgical procedures, such as LDL apheresis, may be considered.
**Question: Can Familial Hypercholesterolemia be prevented?**
**Answer:** FH is an inherited condition and cannot be prevented. However, early diagnosis and treatment can significantly reduce the risk of complications.
Familial hypercholesterolemia is a rare genetic disorder that causes high levels of cholesterol in the blood.