Mayo Clinic: What is familial hypercholesterolemia? Is that
just another way of talking about high cholesterol? How is it
Familial hypercholesterolemia is not the same as a typical
case of high cholesterol. Familial hypercholesterolemia is an
inherited condition that affects the way the body processes
cholesterol. It results in high cholesterol in the blood and
significantly raises the risk of a heart attack or stroke.
Familial hypercholesterolemia can be detected with a genetic
test. Once itís identified, it often can be effectively
is a waxy substance thatís found in the fats in blood. While
the body needs some cholesterol to build healthy cells, having
too much cholesterol can cause health problems. In people who
have familial hypercholesterolemia, a defective gene prevents
the body from removing from the blood low-density lipoprotein
cholesterol ó known as LDL (sometimes referred to as the
"bad" cholesterol). Because of the extra
cholesterol, plaque builds up in the arteries, causing them to
narrow and increasing the likelihood of a heart attack or a
mutation that causes familial hypercholesterolemia is passed
from parent to child. Children with familial
hypercholesterolemia inherit a defective copy of the gene from
one parent. In most cases, they have one affected gene and one
normal gene. In rare cases, a person inherits an affected copy
of the gene from both parents. That leads to a much more
severe form of the disease.
hypercholesterolemia is a relatively common genetic condition.
About 5 percent of the general population has high cholesterol
as defined by LDL cholesterol greater than 190 milligrams per
deciliter of blood. Of that group, about 5 to 7 percent have
hypercholesterolemia can be serious and life-threatening. It
typically does not cause any symptoms. If left untreated, it
can lead to sudden cardiac death due to a heart attack, often
before the age of 50. Because of the potentially devastating
nature of this disease, itís crucial that it is identified
and treated early. Unfortunately, many people with familial
hypercholesterolemia donít know they have it. Current
estimates are that only about 10 percent of those affected by
the disease have been diagnosed.
who should be tested for familial hypercholesterolemia can be
difficult, and there is some disagreement among researchers
and physicians regarding screening guidelines. What everyone
agrees on, though, is that when a person is diagnosed with
familial hypercholesterolemia, all of the members of that
individualís family should be tested for the familial
hypercholesterolemia gene mutation, too, particularly
first-degree relatives ó children, parents and siblings.
familial hypercholesterolemia involves a cholesterol check,
called a lipid panel or a lipid profile, as well as a genetic
test. As is common at most health care facilities, Mayo Clinic
strongly recommends that patients meet with a genetic
counselor before undergoing any genetic testing. The counselor
can explain what the test involves and what it means, as well
as the possible implications of the test results.
familial hypercholesterolemia has been diagnosed, treatment
typically includes taking medication to lower LDL cholesterol.
Adopting positive lifestyle choices, such as eating a low-fat
diet, exercising and maintaining a healthy body weight, is
always a good way to help ensure heart health and is
recommended for people who have familial hypercholesterolemia.
In most cases, though, lifestyle changes alone arenít enough
to lower LDL cholesterol to healthy levels in people who have
are concerned about the possibility of familial
hypercholesterolemia in your family, especially if you have a
family member who experienced a heart attack or stroke before
age 50, talk to your health care provider about your risk
factors for the condition and whether you should be tested for