Familial hypercholesterolemia (FH) is a genetic disorder that increases the likelihood of having coronary artery disease or a heart attack at a young age. It affects about 1 in 250 people. People with FH have elevated levels of low-density lipoprotein (LDL) cholesterol. Diet and exercise help, but often doctors prescribe medicines such as statins to lower cholesterol.
How do I know if I have FH?
- LDL cholesterol levels over 190 mg/dL in adults (and over 160 mg/dL in children)
- Family history of early heart disease or heart attacks may mean you have FH
- Physical signs
- Bumps or lumps around your knees, knuckles, or elbows
- Swollen or painful Achilles’ tendon
- Yellowish areas around your eyes
- A whitish gray color in the shape of a half-moon on the outside of your cornea
What else can I do to find out if I have FH?
Genetic testing is one of the best ways to find out and be proactive. Your blood will be checked for mutations in one of the following important genes: LDLR, APOB, or PCSK9. More genes are being investigated as well, but right now these are the ones we know about now. These are the genes that help your body regulate and remove cholesterol from your bloodstream. About ¾ of people with FH have a mutation in one of these 3 genes.
Everyone gets one copy of each gene from each parent. You only need a mutation in one copy of the genes to cause FH. The chances of you having FH are increased if both of your parents carry the gene mutation. Fortunately, most people are found to have only one FH-causing mutation, and this allows your doctor to advise you on treatment planning. Rarely, a person can be found to have two mutations in both copies of the same gene. Genetic testing in these patients is especially important since they can have extremely high levels of cholesterol and can even have coronary heart disease or heart attacks at an incredibly young age.
