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About Hypercholesterolemia Heterozygous Familial
What is Heterozygous Familial Hypercholesterolemia (HeFH)?
HeFH is an inherited disorder that affects how your body processes cholesterol. Unlike high cholesterol that develops due to diet and lifestyle choices, HeFH is caused by a mutation in one copy of a gene (most commonly the LDL receptor gene) that is critical for removing LDL cholesterol from the blood. This means that individuals with HeFH are born with very high levels of LDL cholesterol, often two to four times higher than average, regardless of their diet or exercise habits. Because these high levels are present from a young age, people with HeFH are at a significantly increased risk for developing serious cardiovascular diseases, such as heart attacks and strokes, much earlier in life than the general population.
Diagnosis often involves a blood test to measure cholesterol levels, a physical exam looking for cholesterol deposits (xanthomas), and a family history review. Early diagnosis is vital for starting treatment promptly and reducing long-term health risks.
Common Treatments and Medications for HeFH
Managing HeFH typically involves a combination of lifestyle adjustments and, most importantly, medication. The primary goal is to aggressively lower LDL cholesterol levels. The most common medications include:
- Statins: These are often the first line of defense, working to reduce cholesterol production in the liver.
- Ezetimibe: This medication helps reduce the absorption of cholesterol from the diet in the intestines.
- PCSK9 Inhibitors: These are newer, highly effective injectable medications that dramatically lower LDL cholesterol by increasing the liver's ability to remove it from the blood. While very effective, they can also be quite expensive.
- Bempedoic Acid: Another option that helps lower cholesterol by inhibiting an enzyme involved in cholesterol synthesis.
The information above is for educational purposes only and does not constitute medical advice. Consult your healthcare provider before making medication decisions.