New Study From The FH Foundation Will Investigate Genetic Testing of Familial Hypercholesterolemia

According to a story from Cardiovascular Business, The FH Foundation, which is a frontrunning patient advocacy and research organization for familial hypercholesterolemia, recently announced that it has begun enrollment for a new study. The overall goal of this study is to gauge the willingness of previously diagnosed familial hypercholesterolemia patients and their families to receive genetic testing. Participants will have totally complimentary access to genetic testing and counseling.
Familial hypercholesterolemia (FH) is a genetic disorder that causes a patient to have exceptionally high levels of low-density lipoprotein (LDL) cholesterol. This is the “bad” cholesterol that is closely linked to a greater risk of heart attack and cardiovascular diseases. Unfortunately, many patients go undiagnosed, and fundamental differences in body chemistry mean that conventional methods of controlling LDL cholesterol are not always effective. However, for many patients, high-dose statins can be useful. The disorder is caused by genetic mutations. There are usually little other symptoms of familial hypercholesterolemia, but in some patients there may be deposits of fat with high cholesterol concentrations in various areas of the body, such as the outer edge of the iris, above the eyelids, and tendons of the limbs. To learn more about familial hypercholesterolemia, click here.

Research has revealed that people who have the genetic disposition towards FH are at a greater risk of cardiovascular disease, even if their cholesterol levels are more or less normal. Many people with the disorder continue to go undiagnosed, so testing the family members of FH patients is probably a surefire way to detect more patients. This could allow them to start getting treatment early before a potentially lethal event such as a stroke or heart attack occurs. FH is projected to affect about 30 million people across the planet. It is estimated that only about 10 percent of people with FH have actually gotten diagnosed.

In order to detect more people with FH, the study will use a tactic called “cascade screening,” in which all potentially affected family members of a patient are tested. With each new case detected, the process continues again. Research has shown this to be a cost-effective measure that reduces the potential of heart disease in this high risk group of patients.