What is Familial Hypercholesterolemia?

hypercholesterolemia

Familial hypercholesterolemia is a hereditary condition characterized by high total cholesterol levels and, specifically, elevated levels of low-density lipoprotein – otherwise known as LDLc or “bad” cholesterol.[1] Cholesterol is a waxy fat that occurs naturally in the body and is found in all the body’s cells. HDL and LDL are fat proteins known as lipoproteins, which play a role in cholesterol transport. When too much LDL cholesterol builds up, an individual is at risk of atherosclerosis and coronary heart conditions.^[2]

As the condition is genetic, it cannot be fully cured. However, it can be managed through a combination of lifestyle changes and medication.

Causes of familial hypercholesterolemia

Familial hypercholesterolemia is a genetic disorder caused by a mutated gene. This mutation disrupts the body’s ability to remove low-density lipoprotein from the blood as it normally would, resulting in the development of high levels of cholesterol.

The condition is autosomal dominant, meaning the gene mutation can be inherited if only one parent is carrier. In these instances, the condition is known as heterozygous FH. In the rare case where both parents are carriers, a particularly severe variety of familial hypercholesterolemia known as homozygous FH will be passed on.

The condition is differentiated from standard hypercholesterolemia by its hereditary nature. Anyone can develop hypercholesterolemia – which is generally caused by unhealthy lifestyle choices – whereas only those with a family history of the condition can develop familial hypercholesterolemia. Standard high cholesterol generally develops in older individuals, whereas the genetic variety is present from birth and has a tendency to be more aggressive.^[3]

Signs and symptoms of familial hypercholesterolemia

In many cases, especially in younger people, there will be no apparent symptoms of familial hypercholesterolemia. However, if signs and symptoms do present themselves, they may include:^[1]

• Xanthomas: Fatty deposits on the skin that typically appear on the hands, knees, buttocks, elbows and ankles.
• Xanthelasmas: Deposits of cholesterol around the eyelids.
• Arcus senilis: A white-colored ring around the cornea
• Arthralgia (joint pain)
• Tendonitis (inflamed tendons)
• History of unusual skin lesions
• At least one parent with severe hypercholesterolemia

The most significant consequence of familial hypercholesterolemia, however, is heart disease. In cases of heterozygous familial hypercholesterolemia, signs of atherosclerotic cardiovascular disease, such as angina and heart attack, will appear in middle age if the condition is not treated. In homozygous hypercholesterolemia, symptoms occur in childhood, and many people with this condition die before the age of 20. Heart disease can lead to potentially life-threatening complications such as heart attack.

Diagnosing familial hypercholesterolemia

Diagnosing familial hypercholesterolemia will generally involve three stages: examining the affected person’s medical history, a physical examination, and blood tests.

Medical history

As familial hypercholesterolemia is hereditary, doctors will first inquire about a person’s family medical history. This will particularly focus on the parents, who are the carriers of the disorder. In some cases, the genetic form of the condition may have been misdiagnosed as standard hypercholesterolemia or may not have been diagnosed at all, meaning that it is possible to be unknowingly at risk of developing the genetic form of the condition.

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Physical examination

Doctors will also carry out a full physical examination to help diagnose familial hypercholesterolemia. This will particularly focus on checking for fatty deposits on the skin of hands, ankles, knees, elbows et al. and around the eyes – one of the more common exterior symptoms of high cholesterol levels. The doctor will also conduct a thorough cardiovascular examination.

Blood tests

Blood tests will be ordered to confirm a diagnosis of familial hypercholesterolemia. Blood tests will check for an individual’s total cholesterol level (HDL and LDL cholesterol) as well as the specific amount of LDL cholesterol.

Adults with the condition will typically have total cholesterol levels of around 300 milligrams per deciliter and over, whereas children will have levels of about 250 milligrams per deciliter and above. LDL cholesterol levels will typically be about 220 milligrams per deciliter and over in adults and about 170-200 milligrams per deciliter and over in children.^[4]

However, the same levels involved will differ according to whether the condition is heterozygous or homozygous familial hypercholesterolemia. In heterozygous FH, LDLc levels are usually higher than 250mg/dL, around 290mg/dL to 300mg/dL, and increase with age. In people younger than 20 years of age, and LDLc level higher than 200mg/dL suggests heterozygous FH.

However, in homozygous FH, total cholesterol and LDLc levels higher than 600mg/dL are typical in both adults and children.

Genetic tests can also be used to determine the presence of the defective gene, and a test for fibroblasts (connective tissue cells) can allow doctors to see how the body is absorbing cholesterol.

Read more about Blood Test Results.»

Familial hypercholesterolemia treatment

Treatment for familial hypercholesterolemia aims to reduce the risk of heart disease or heart attack. It usually combines the use of:

• Medication: Statins (medicines which help lower the level of LDL in the blood) are typically prescribed to treat familial hypercholesterolemia. They are generally effective, but may be necessary throughout an individual’s life. Another medication, ezetimibe, may also be prescribed alongside statins if statins alone are ineffective.^[1] For patients with FH, particularly homozygous FH, treatment should ideally be managed by a lipid specialist.
• Diet and lifestyle changes: Combating high cholesterol levels may also involve making healthy lifestyle choices, such as avoiding tobacco products, excessive amounts of alcohol and remaining physically active. Diet changes may also be necessary. This will focus on avoiding saturated fats present in foods, such as dairy products, meat and pastry.^[5] A vegetarian or even vegan lifestyle may be the best option for people with FH.

Familial hypercholesterolemia prognosis

The prognosis for familial hypercholesterolemia is dependent on how closely an individual follows the lifestyle and diet recommendations, as well as how well the body responds to the medication. Lifestyle changes and medications can help significantly delay heart disease or heart attack.

Those with homozygous FH will generally receive a less positive prognosis, as will those who experience early complications, such as heart problems in childhood.^[6]

Familial hypercholesterolemia FAQs

Q: What is the life expectancy for those with familial hypercholesterolemia?
A: Without treatment, the life expectancy of those with familial hypercholesterolemia can be reduced by approximately 15-30 years. However, in people with homozygous familial hypercholesterolemia, the life expectancy may only be 20 years or less. Treatment, however, can manage the condition and lead to a significantly improved prognosis.^[7]

Q: Can familial hypercholesterolemia be treated without the use of statins?
A: Statins are normally the preferred medication for treating high cholesterol. However, if side effects occur, or statins are not an available option for various reasons, there are other medications that can be used instead. These include cholesterol absorption inhibitors, sequestrants, and niacin or vitamin B-3. The choice of treatment route should always be decided based on the recommendations of a medical professional.^[8]

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1. Patient. “Familial Hypercholesterolaemia.” August 1, 2017. Accessed August 2, 2017. ↩ ↩ ↩

2. National Heart, Lung, and Blood Institute. “What is Cholesterol?” Accessed August 2, 2017. ↩

3. FH Foundation. “Familial Hypercholesterolemia.” November 15, 2014. Accessed August 2, 2017. ↩

4. Healthline. “Familial Hypercholesterolemia.” February 9, 2016. Accessed August 2, 2017. ↩

5. Heart UK. “Treatment for People with Familial Hypercholesterolemia (FH).” Accessed August 2, 2017. ↩

6. MedlinePlus. “Familial hypercholesterolemia.” May 5, 2016. Accessed August 2, 2017. ↩

7. LifeExtension. “Familial Hypercholesterolemia.” July, 2006. Accessed August 2, 2017. ↩

8. Healthline. “Alternatives to Statin for Lowering Cholesterol.” January 20, 2016. Accessed August 2, 2017. ↩

**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.