A genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol due to a single mutated gene, leading to premature cardiovascular disease if untreated.

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Familial Hypercholesterolemia, Heterozygous FAQ


What causes Familial Heterozygous High Cholesterol?

A single inherited mutation in genes affecting LDL cholesterol metabolism, typically from one parent.

How is Familial Heterozygous High Cholesterol diagnosed?

Through genetic testing, lipid profile blood tests, and family medical history assessment.

What are common symptoms in Malaysia?

Often asymptomatic, but may include xanthelasma (skin cholesterol deposits) or premature cardiovascular events.

Can diet alone manage this condition?

Dietary changes help but are typically insufficient; medication is usually necessary.

What is the primary treatment goal?

Reduce LDL cholesterol levels by 50% or more to lower cardiovascular risk.

Are statins the only treatment option?

No, ezetimibe, PCSK9 inhibitors, or apheresis may also be prescribed for severe cases.

How often should lipid levels be monitored?

Every 3-6 months initially, then annually once stable, as per Malaysian clinical guidelines.

Can children inherit this condition?

Yes, 50% chance of passing the mutated gene to offspring.

Adopt a heart-healthy diet, exercise regularly, and avoid smoking.

Is weight loss beneficial for management?

Yes, if overweight, as it can improve overall cardiovascular health.

How does treatment vary by age?

Children may start with lifestyle changes, while adults often require immediate medication.

Are natural supplements effective?

Some, like psyllium, may help but should not replace prescribed medications.

What is the prognosis with proper treatment?

Significantly improved, reducing cardiovascular event risk by 50-70%.

Can treatment be stopped if goals are met?

Usually, lifelong treatment is necessary due to the genetic nature.

How to find support in Malaysia?

Consult a cardiologist or genetic counselor through Malaysian public/private healthcare services.

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