Where is familial hypercholesterolemia most common




















Worldwide, 1 in every people has FH. In these populations, 1 in every 67 people are found to have FH. Familial Hypercholesterolemia is an autosomal dominant genetic disorder, meaning that only one parent needs to have the condition for his or her children to inherit it.

The mutated gene is dominant, so even if the child receives a healthy gene from the other parent, the mutated gene can override the healthy one. Those with one parent with the condition have a 50 percent chance of inheriting FH. Your doctor will also ask about your personal and family medical history. Your doctor will also order blood tests. The blood tests are used to determine your cholesterol levels, and the results may indicate that you have high levels of total cholesterol and LDL cholesterol.

Your doctor will typically also test your triglycerides, which are made up of fatty acids. Triglyceride levels tend to be normal in people with this genetic condition. Other blood tests may include specialized cholesterol and lipid tests, along with genetic tests that establish whether you have any of the known defective genes. Identifying those with FH through genetic testing has allowed for early treatment.

This has led to a decrease in death due to heart disease at a young age and helped identify other family members at risk for the condition. Like ordinary high cholesterol, FH is treated with diet. But unlike other forms of high cholesterol, treating with medication is also a must. A combination of both is needed to reduce cholesterol successfully and delay the onset of heart disease, heart attack, and other complications.

Your doctor will usually ask you to modify your diet and increase exercise along with prescribing medication. If you smoke, quitting smoking is also a critical part of treatment. If you have FH, your doctor will recommend a diet that focuses on lowering unhealthy fat intake and other less healthful foods. Diet and exercise are important to maintaining a healthy weight, which can help lower cholesterol levels. Not smoking and getting regular, restful sleep is also important.

The current treatment guidelines include medications along with lifestyle changes to reduce your cholesterol. This includes starting medications as early as ages 8 to 10 in children.

The outlook depends on whether or not you make lifestyle modifications and take your prescribed medications. These changes can significantly reduce heart disease and prevent a heart attack. Early diagnosis and proper treatment can lead to a normal life expectancy. According to the American Heart Association , untreated people with FH who inherit the mutated gene from both parents, the most rare form, are at greatest risk for heart attack and death before age Over a year span, people with FH who go without treatment are five times more likely to develop heart disease than those with LDL cholesterol in the healthy range.

Because FH is genetic, the best chance of preventing it is to seek genetic counseling before conceiving. Based on your family history, a genetic counselor may be able to identify whether you or your partner are at risk for the gene mutations of FH. Heart attacks may occur before age 50 in men and age 60 in women. The rarer and more severe variety of the condition, if undiagnosed or untreated, can cause death before age Mayo Clinic does not endorse companies or products.

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Overview Familial hypercholesterolemia affects the way the body processes cholesterol. Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references Kliegman RM, et al. Defects in metabolism of lipids. In: Nelson Textbook of Pediatrics. Elsevier; Accessed July 15, Goldman L, et al. Disorders of lipid metabolism.



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