Familial Hyperlipidemia

What is Familial Hyperlipidemia?

Hyperlipidemia is a condition characterized by elevated levels of lipids (cholesterol and triglycerides) in the blood, significantly increasing the risk of cardiovascular diseases such as coronary artery disease, heart attacks, and strokes. While factors such as diet and lifestyle play a major role, hyperlipidemia can also have a genetic basis, affecting multiple members within the same family.

Familial hyperlipidemia is an inherited disorder of lipid metabolism that causes very high cholesterol levels from an early age. If left undiagnosed and untreated, it can lead to serious heart conditions even before the age of 40–50.

Genes Analyzed in the Genetic Test

The genetic test for hyperlipidemia examines mutations in genes that affect lipid metabolism, including:

• LDLR: Encodes the receptor for LDL cholesterol (the “bad” cholesterol). Mutations in this gene result in insufficient clearance of LDL from the blood.
• APOB: Involved in cholesterol metabolism. Mutations in this gene can lead to hyperlipidemia.
• PCSK9: Regulates the degradation of LDL receptors. Mutations can result in uncontrolled high cholesterol levels.
• LPL, APOC2, APOA5: These genes affect triglyceride metabolism and can lead to hypertriglyceridemia.

How Can the Genetic Test Help?

The genetic test can offer:

• Early Diagnosis and Prevention: Detecting genetic mutations allows for timely intervention to reduce the risk of cardiovascular complications.
• Personalized Treatment: Depending on the genetic predisposition, doctors can recommend specific medications (such as statins or PCSK9 inhibitors) and tailored lifestyle modifications.
• Family Screening: Individuals with a family history of high cholesterol or early-onset cardiovascular disease can benefit from testing to identify at-risk family members.

Who Should Consider the Genetic Test?

The genetic test for hyperlipidemia is recommended for:

• Individuals with persistently high LDL cholesterol levels (>190 mg/dL) or elevated triglycerides.
• Individuals with a family history of cardiovascular diseases occurring before the age of 55 in men and 65 in women.
• Young individuals presenting with high cholesterol or signs of hyperlipidemia, such as xanthomas (lipid deposits in the skin).