Heterozygous familial hyperlipidemia

What is Heterozygous Familial Hyperlipidaemia?

Heterozygous familial hyperlipidaemia (FH), also known as familial combined hyperlipidaemia, is an inherited disease caused by genetic mutations in the genes responsible for controlling lipoprotein metabolism. FH is a condition which can cause abnormally high levels of cholesterol and other fatty substances called lipids in the blood.

The condition puts sufferers at higher risk of developing heart disease, stroke and peripheral vascular disorders.

Signs and Symptoms of Heterozygous Familial Hyperlipidaemia

FH does not usually have noticeable symptoms and is often only suspected when a doctor orders a blood test which shows higher than normal levels of cholesterol or triglycerides. In some cases, sufferers may experience signs of untreated high cholesterol, such as stroke or coronary artery disease.

Diagnosis and Treatment of Heterozygous Familial Hyperlipidaemia

Diagnosis of FH is usually made on the basis of blood test results showing abnormally high lipid levels. A family history of heart disease or related conditions may also be taken into consideration. In some cases, genetic testing may be ordered to confirm the diagnosis.

Treatment of FH typically involves lifestyle changes such as a healthy diet and regular exercise, as well as medications such as statins, which help to reduce cholesterol levels. In more serious cases, some patients may require larger doses of medication or additional therapies such as apheresis.

Complications of Untreated Heterozygous Familial Hyperlipidaemia

If left untreated, FH can lead to a number of serious complications such as heart attack, stroke and peripheral vascular diseases. Regular monitoring of cholesterol and triglyceride levels is necessary to reduce risk of these complications.

Summary

Heterozygous familial hyperlipidaemia is a hereditary condition caused by mutations in the genes controlling lipoprotein metabolism. FH can lead to abnormally high cholesterol and triglyceride levels, putting sufferers at greater risk of heart disease and stroke. Diagnosis is usually made on the basis of blood tests, and treatment typically involves lifestyle changes and medications. Untreated FH can lead to serious complications, so regular monitoring of lipid levels is essential to reduce the risk.