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What is Familial Hypercholesterolemia?

Familial Hypercholesterolemia (FH) is a genetic disorder that affects the body's ability to remove low-density lipoprotein (LDL) cholesterol from the blood. It is characterized by high levels of LDL cholesterol, also known as "bad" cholesterol, which can lead to an increased risk of early heart disease. FH is an inherited condition, meaning it is passed down from one or both parents to their children through a faulty gene.


It is estimated that approximately 1 in 250 to 1 in 500 individuals carry the mutated gene worldwide. While carrying the gene does not inevitably lead to the development of the disease, it significantly increases the risk for affected individuals.

What Are the Symptoms Associated with FH?

The most common symptom of FH is high levels of LDL cholesterol from birth, even with a healthy diet and lifestyle. Other symptoms may include the development of yellowish cholesterol deposits, called xanthomas, on the skin and tendons, and the presence of cholesterol deposits in the eyelids, known as xanthelasmas. In some cases, individuals with FH may also experience premature blockage of heart arteries, leading to heart attacks or strokes at an early age.

How is FH Diagnosed?

Diagnosis of FH typically involves a combination of clinical evaluation, family history assessment, and genetic testing. A lipid profile blood test is often used to measure cholesterol levels. Additionally, genetic testing can identify specific mutations associated with FH. It is important to diagnose FH early to initiate appropriate management strategies and minimize the risk of complications.


What Are the Treatment Options for FH?

The goal of treatment for FH is to reduce LDL cholesterol levels and decrease the risk of cardiovascular events. Lifestyle modifications, such as adopting a heart-healthy diet, increasing physical activity, and avoiding smoking, are initial steps. Medications like statins, ezetimibe, and PCSK9 inhibitors may be prescribed to lower cholesterol levels. In some cases, individuals with FH may require apheresis, a procedure that filters out excess LDL cholesterol from the blood. Emerging therapies, such as gene editing techniques, are being explored to provide more targeted and long-lasting treatments for FH.