What does heterozygous familial hypercholesterolemia indicate?

What does heterozygous familial hypercholesterolemia indicate?

Heterozygous Familial Hypercholesterolemia (HeFH) is an inherited genetic disorder that causes dangerously high cholesterol levels, which can lead to heart disease, heart attack, or stroke at an early age if left untreated.

Is heterozygous familial hypercholesterolemia rare?

Recent studies have shown that FH is as common as 1 in 250, making it one of the most common genetic diseases. However, most individuals go undiagnosed and most are undertreated given their very high risk.

What is the difference between homozygous and heterozygous familial hypercholesterolemia?

Heterozygous FH is characterized by very high LDL cholesterol (above 190 for adults or above 160 for children) and a family history of high cholesterol, heart disease or stroke. If both of your parents have FH and you inherit the FH gene from each of them, you will have homozygous FH, meaning you have two FH genes.

Why is homozygous familial hypercholesterolemia bad?

Homozygous familial hypercholesterolemia is a disorder where it is hard for your body to remove LDL “bad” cholesterol from your blood. The disease raises your chances of a heart attack at an early age, but drugs and other treatments can lower your risk. Cholesterol is waxy stuff that’s in your cells.

Can diet reduce familial cholesterol?

Yes, you need a heart healthy diet. For FH, this means a diet low in saturated fat and cholesterol and with the right number of calories to prevent obesity. This is in addition to medications or other therapies, since lifestyle alone will not lower cholesterol enough if you have FH.

What are the symptoms of heterozygous?

Signs and symptoms of heterozygous FH in adults include the following:

• Long-standing history of severe hypercholesterolemia dating back to childhood.
• If no previous acute coronary event, symptoms consistent with ischemic heart disease, especially in the presence of other cardiovascular risk factors (especially smoking)

How many people have heterozygous familial hypercholesterolemia?

Heterozygous familial hypercholesterolemia (HeFH) is a monogenic disorder that affects about 1 in 500 people, with a higher prevalence in certain subpopulations such as people of Quebecois, Christian Lebanese and Dutch South Afrikaner extraction.

How long can you live with familial hypercholesterolemia?

A: Without treatment, the life expectancy of those with familial hypercholesterolemia can be reduced by approximately 15-30 years. However, in people with homozygous familial hypercholesterolemia, the life expectancy may only be 20 years or less.

How common is the heterozygous form of familial hypercholesterolaemia?

If a child inherits the gene from both parents, he or she will have homozygous FH. Heterozygous FH affects one in every 200-500 people worldwide. It is one of the most common genetic disorders. Homozygous FH is very rare, affecting about 1 in 1 million people worldwide.

How do you know if you have homozygous familial hypercholesterolemia?

Diagnosing Homozygous Familial Hypercholesterolemia HoFH can be diagnosed with a simple blood test, a physical exam, and family history. The signs and symptoms of HoFH, including the level of LDL-C, vary from person to person. HoFH may be confirmed with genetic testing.

How do you treat homozygous familial hypercholesterolemia?

One option for homozygous familial hypercholesterolemia treatment is apheresis, a treatment which filters cholesterol out of the bloodstream. It’s similar to kidney dialysis and has to be done on a regular basis to be effective. Apheresis is often an out-patient or clinic procedure that takes several hours each time.

Who treats homozygous familial hypercholesterolemia?

Homozygotes and difficult to treat heterozygotes should be referred to endocrinologists or lipidologists. The various cardiovascular manifestations, at one time or another, may require consultation with cardiologists, neurologists, radiologists, and cardiac or vascular surgeons.

How do you treat familial hypercholesterolemia?

Familial hypercholesterolemia in almost all cases requires aggressive treatment through a combined approach – medication, low-fat diet, exercise, weight control and not smoking. Familial hypercholesterolemia involves heart-healthy meals, regular exercise to get the blood flowing, controlling your weight and eliminating smoking.

Does familial hypercholesterolemia have a cure?

It’s a serious condition. Without treatment, men with homozygous familial hypercholesterolemia can get heart disease in their 40s, and women can get it in their 50s. There’s no cure, so you’ll need to take drugs and follow a heart-healthy diet throughout your life.

What is the history of familial hypercholesterolemia?

Familial hypercholesterolemia. Familial hypercholesterolemia (FH) has a rich history in the field of genetic epidemiology. In the late 1930s, Müller (1) characterized the family clustering of xanthomata, high cholesterol, and myocardial infarctions and postulated a single gene inheritance.

How is familial hypercholesterolemia diagnosed?

Familial hypercholesterolemia is often diagnosed based on a combination of physical exam findings and lab results, as well as personal and family history. FH can also be discovered through molecular diagnosis, genetic diagnosis or genetic testing.