We’ve partnered with Genome Medical and Invitae to provide genetic testing services. Please click the button to the right to set up your Genome Medical Account.

     

Learn more about genetic testing and familial hypercholesterolemia (FH). The FH Foundation has developed an online educational guide on what you need to know when considering genetic testing.

     

What is Homozygous Familial Hypercholesterolemia?

FH is short for Familial Hypercholesterolemia. It is an inherited disorder that leads to aggressive and premature cardiovascular disease. This includes problems like heart attacks, strokes, and even narrowing of our heart valves. For individuals with FH, although diet and lifestyle are important, they are not the cause of high LDL cholesterol. In FH patients, genetic mutations make the liver incapable of metabolizing (or removing) excess LDL particles, that carry cholesterol, from the blood. The result is very high LDL cholesterol levels which can lead to premature cardiovascular disease (CVD).

There are two forms of Familial Hypercholesterolemia (FH): Heterozygous Familial Hypercholesterolemia (HeFH) and Homozygous Familial Hypercholesterolemia (HoFH). The most serious type of FH is HoFH. Untreated, HoFH often causes heart disease (heart attacks and aortic valve disease) beginning in the early teen years and sometimes earlier in life. It is much less common than HeFH, but lives can be saved if it is identified and treated.  When a person with HoFH is not treated with medications, the low-density lipoprotein cholesterol (LDL-C, “bad cholesterol”) level is typically between 400-1000 mg/dL-over 4 times the normal level.

About the FH Foundation

We are a patient-centered nonprofit organization dedicated to research, advocacy, and education of all forms of familial hypercholesterolemia (FH). Our mission is to raise awareness and save lives by increasing the rate of early diagnosis and encouraging proactive treatment.

PARTNERS

Genome Medical logo
Invitae logo