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FH Runs in Families

The cholesterol disorder that runs in families: FH, Familial Hypercholesterolemia

We all know the outward traits we have inherited from our parents. You might have your mother’s eyes or your father’s hair color. Those kinds of features make it obvious how physical traits run in families. Unfortunately, there are hidden medical issues within our bodies that also run in families. Familial hypercholesterolemia is one of those.

Familial hypercholesterolemia, or FH for short, is the result of a genetic mutation that limits the body’s ability to remove LDL cholesterol (the bad cholesterol) from the blood. “Familial” means that it is passed from parents to children. “Hypercholesterolemia” means there is too much cholesterol in the blood.

FH is marked by very high LDL cholesterol (the bad cholesterol), even preceding birth. A person with FH is unable to lower his or her cholesterol to a safe level through lifestyle changes alone. So it is no surprise that people with FH have a much greater chance of having heart disease when they are young, and often suffer early heart attacks, according to the FH Foundation. Recent research from the Netherlands and other European countries estimates that as many as 1 in 200 people may have the genetic mutation that causes FH. Previously, it was thought that 1 in 500 did, says Dr. Iris Kindt, who directed a famed study at the Foundation for the Identification of Persons with Inherited Hypercholesterolemia in Amsterdam.

“We found more FH patients than we thought, and more people who had homozygous FH (those who inherited it from both parents), which is more serious,” she says.

According to Dr. Seth Baum, cardiologist and lipid specialist, those who have FH have at least a 50 percent chance of passing it on to their offspring. When both parents have it, the chance is much higher, and the possibility of an early heart attack even greater.

If you or a loved one has FH, it is of utmost importance that your blood relatives are also screened for the disease. The process whereby this detective work is done is called cascade screening.

Your so-called first-degree relatives — parents, siblings and children should be the first ones screened. The screening includes a medical history, physical examination, and a blood cholesterol test. (Genetic testing is commonly done in Europe to identify FH, but rarely in the United States.) Remember, if a first-degree relative has FH, there is at least a 50 percent chance you also have it.

If you have young children, it is not too early for them to be screened. In fact, the American Academy of Pediatrics’ 2014 guidelines recommend first testing a child’s cholesterol at age 9-11, because hormonal changes make it difficult to get an accurate cholesterol reading during adolescence. This establishes a baseline cholesterol level so it can be tracked as they age. When a parent has FH, however, his or her children should be screened at age 2.

“FH can be much more damaging to your heart and blood vessels than high cholesterol from excessive fat consumption. Because people with FH have high LDL-cholesterol levels from birth, early diagnosis and active treatment are essential to slowing down or even preventing progressive heart disease,” the FH Foundation website says.

After your first-degree relatives are screened, your cardiologist or lipidologist will probably suggest that your second degree relatives be screened as well. These are your grandparents, grandchildren, nieces, nephews, and half-siblings. Third-degree relatives come next. They include great-grandparents, great-grandchildren and cousins.

If this sounds like it can get complicated, it can. But it is important. In the Dutch national screening program, 27,000 people in the Netherlands were genetically screened and a large database was created to help doctors trace the disease among families.

“The Netherlands is a tiny country, so we were able to identify 70 percent of the people who had FH,” Kindt says.

For each index case (the initial patient diagnosed with FH) that was identified, on average eight additional family members with FH were found.

Fortunately, FH is treatable. Patients usually receive a combination of several treatments that include medication, lifestyle and diet changes, and LDL-apheresis (a blood cleansing procedure). The right treatment can lower a patient’s LDL cholesterol to safe levels. Dr. Baum, a member of the FH Foundation board of directors, and operator of Southeast Florida’s only LDL apheresis center, says: “LDL apheresis can lower patients’ LDL level by 70 percent, and the procedure is extraordinarily well tolerated,” he adds.

Here in the U.S., there is no national screening program. However, FH patients can join CASCADE FH Registry, an initiative of The FH Foundation. This is a nationwide registry in which patients can self enroll through a patient portal, and physicians can also enter patient information into this registry. CASCADE FH is a nationwide database of individuals with FH, which enables further research into FH disease patterns, diagnosis, and care.

The FH Registry also is a resource for families. Fewer than 10 percent of all people who have FH are aware of it, so being in the Registry is important for your family members down the road even those who have not yet been born. Visit for more information.