Familial hypercholesterolemia symptoms
The main symptom of familial hypercholesterolemia is high levels of low-density lipoprotein (LDL) cholesterol — the so-called bad kind that can lead to heart attacks and other cardiovascular problems. A normal LDL level is below 100 milligrams per deciliter (mg/dL).
It can also be a sign of a problem with other lipids, such as triglycerides. A blood test called a lipid panel can give your doctor a good idea of how well your cholesterol levels are controlled.
A positive test result may mean your doctor has found a genetic variant on chromosome number 19 that causes the condition. It’s an autosomal dominant inherited disorder, meaning a parent who carries the mutated gene has a 50 percent chance of passing it on to each of their children.
There are two types of FH: heterozygous and homozygous. Heterozygous hypercholesterolemia is a more common type of the disorder, in which a person inherits one mutated gene from each parent. It’s often treated by changing the diet to reduce fatty foods like meat, butter, whole milk and fatty cheeses. Eating more fruits and vegetables can also help lower cholesterol levels.
Your doctor might recommend a statin drug to help lower your LDL cholesterol. Taking cholesterol-lowering medications can lower your risk of developing heart disease and help you live longer.
If your cholesterol levels are high enough, you might be referred to a specialist who specializes in treating people with lipid disorders. He or she will likely prescribe a special low-fat diet that’s low in saturated fat and cholesterol. They might also suggest exercise to help reduce your weight and decrease the amount of cholesterol in your blood.
They might also prescribe a medication called bile acid sequestrant, which blocks the way the liver makes cholesterol and helps it get out of your body. Other treatment options include a procedure called LDL apheresis, which is a dialysis-like procedure that removes cholesterol from your blood.
Heterozygous FH has a higher risk of heart attacks and early artery disease than homozygous FH, so it’s important to treat it as soon as possible. This can be done with a drug called atorvastatin, which can help lower LDL levels.
It’s rare for people with this form of the condition to have heart attacks until they reach middle age, but it can still happen at a young age. Medications that lower your cholesterol can help prevent these complications, and a diet that’s low in dietary fat and sugar can also help you manage your disease and your cholesterol levels.
You might also need to participate in clinical trials to find new medicines that work better than what you’re taking now. Many of these are offered by the FH Foundation, which offers information on joining a trial.
The main symptom of FH is high levels of low-density-lipoprotein (LDL) cholesterol — the bad kind that can lead to heart attacks and blood clots. It can also be a sign of faulty cholesterol regulation in the arteries. Luckily, it can be diagnosed and treated early.
