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Familial Hypercholesterolaemia – Causes & Treatment

Familial hypercholesterolaemia is an inherited metabolic disorder causing persistently high LDL cholesterol levels, significantly increasing the risk of early cardiovascular disease.

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Things worth knowing about "Familial Hypercholesterolaemia"

Familial hypercholesterolaemia is an inherited metabolic disorder causing persistently high LDL cholesterol levels, significantly increasing the risk of early cardiovascular disease.

What is Familial Hypercholesterolaemia?

Familial hypercholesterolaemia (FH) is a genetic metabolic disorder characterised by persistently elevated levels of LDL cholesterol (low-density lipoprotein, commonly referred to as bad cholesterol) in the blood. When LDL cholesterol accumulates at high levels over time, it can deposit in the walls of blood vessels, leading to atherosclerosis and a significantly increased risk of heart attack and stroke. FH is one of the most common inherited metabolic disorders, affecting approximately 1 in 250 to 500 people in its heterozygous form.

Causes

Familial hypercholesterolaemia is caused by mutations in the LDL receptor gene. The LDL receptor is responsible for removing LDL cholesterol from the bloodstream by binding to it and transporting it into liver cells for breakdown. When the receptor is defective or absent, LDL cholesterol builds up in the blood.

Heterozygous FH: One copy of the defective gene is inherited from one parent. This is the more common form and leads to LDL levels 2 to 3 times higher than normal.
Homozygous FH: Both copies of the gene are defective, inherited from both parents. This is a rare, severe form with LDL levels up to 6 times the normal range.

In addition to LDL receptor gene mutations, variants in the PCSK9 gene or the apolipoprotein B gene (ApoB) can also cause FH.

Symptoms

Familial hypercholesterolaemia often remains without noticeable symptoms for many years. However, certain physical signs may indicate the condition:

Xanthomas: Yellowish fatty deposits in the skin or tendons, commonly found on the Achilles tendon or the tendons of the fingers.
Xanthelasmas: Yellowish deposits around the eyelids.
Arcus lipoides corneae: A white or grey ring at the outer edge of the cornea, which in younger individuals can suggest FH.
Premature cardiovascular disease: Heart attack or angina pectoris at a young age, particularly in male patients.

Diagnosis

The diagnosis of familial hypercholesterolaemia is based on several criteria:

Blood test: Measurement of total and LDL cholesterol. In adults, an LDL level above 190 mg/dl is considered indicative of FH.
Family history: Elevated cholesterol or early-onset cardiovascular disease in first-degree relatives.
Clinical findings: Xanthomas, xanthelasmas, or arcus lipoides corneae.
Genetic testing: Identification of a disease-causing mutation in the LDL receptor, ApoB, or PCSK9 gene.

Standardised diagnostic scoring tools such as the Dutch Lipid Clinic Network (DLCN) Score are widely used in clinical practice.

Treatment

Since FH is a lifelong condition, treatment must begin early and be maintained consistently to reduce the risk of cardiovascular events.

Lifestyle Modifications

Low-cholesterol, high-fibre diet
Regular physical activity
Smoking cessation
Maintaining a healthy body weight

Pharmacological Therapy

Statins: First-line treatment; they inhibit cholesterol synthesis in the liver and significantly reduce LDL levels.
Ezetimibe: Reduces cholesterol absorption in the intestine; often used in combination with statins.
PCSK9 inhibitors: Modern monoclonal antibody therapies (e.g., evolocumab, alirocumab) that greatly enhance LDL clearance from the blood.
Inclisiran: A small interfering RNA molecule that reduces PCSK9 production in the liver, resulting in lower LDL levels.

LDL Apheresis

For patients with severe FH, particularly the homozygous form, or where medications are insufficient, LDL apheresis may be used. This procedure filters LDL cholesterol from the blood outside the body, similar to dialysis.

Prognosis and Prevention

With early and consistent treatment, the risk of heart attack and cardiovascular disease in patients with FH can be substantially reduced. As FH is an inherited disorder, cascade screening of first-degree relatives is strongly recommended to identify affected family members at an early stage.

References

Nordestgaard, B. G. et al. - Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. European Heart Journal, 2013. DOI: 10.1093/eurheartj/eht273
World Health Organization (WHO) - Familial Hypercholesterolaemia (FH): Report of a second WHO Consultation. WHO/HGN/FH/CONS/99.2, Geneva, 1999.
Watts, G. F. et al. - Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. International Journal of Cardiology, 2014. DOI: 10.1016/j.ijcard.2014.01.093

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