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.

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