Familial hypercholesterolemia
Overview
Familial
hypercholesterolemia affects the way the body processes cholesterol. As a
result, people with familial hypercholesterolemia have a higher risk of heart
disease and a greater risk of early heart attack.
The genetic
changes that cause familial hypercholesterolemia are inherited. The condition
is present from birth, but symptoms may not appear until adulthood.
People
who inherit the condition from both parents usually develop symptoms in
childhood. If this rare and more severe variety is left untreated, death often
occurs before age 20.
Treatments for both types of familial hypercholesterolemia
include a variety of medications and healthy-lifestyle behaviors.
Symptoms
Adults
and children who have familial hypercholesterolemia have very high levels of
low-density lipoprotein (LDL) cholesterol in their blood. low-density
lipoprotein (LDL) cholesterol is known as "bad" cholesterol because
it can build up in the walls of the arteries, making them hard and narrow.
This excess cholesterol is sometimes deposited in certain
portions of the skin, some tendons and around the iris of the eyes:
·
Skin. The most common
spots for cholesterol deposits to occur is on the hands, elbows and knees. They
also can occur in the skin around the eyes.
·
Tendons. Cholesterol
deposits may thicken the Achilles tendon, along with some tendons in the hands.
·
Eyes. High cholesterol
levels can cause corneal arcus, a white or gray ring around the iris of the
eye. This happens most commonly in older people, but it can occur in younger
people who have familial hypercholesterolemia.
Causes
Familial hypercholesterolemia is caused by a gene alteration
that's passed down from one or both parents. People who have this condition are
born with it. This change prevents the body from ridding itself of the type of
cholesterol that can build up in the arteries and cause heart disease.
Risk factors
The
risk of familial hypercholesterolemia is higher if one or both of your parents
have the gene alteration that causes it. Most people who have the condition
receive one affected gene. But in rare cases, a child can get the affected gene
from both parents. This can cause a more severe form of the condition.
Familial hypercholesterolemia may be more common in certain
populations, including:
·
Ashkenazi Jews
·
Some Lebanese groups
·
French Canadians
Complications
People who have familial hypercholesterolemia have a higher risk
of heart disease and death at a younger age. Heart attacks may occur before age
50 in men and age 60 in women. The rarer and more severe variety of the
condition, if undiagnosed or untreated, can cause death before age 20.
Diagnosis
A
detailed family history is an important key to diagnosing familial
hypercholesterolemia. Doctors will be interested to know if your siblings,
parents, aunts, uncles or grandparents ever had high cholesterol levels or
heart disease — especially during childhood.
During the physical exam,
doctors usually check for cholesterol deposits that may occur in the skin
around the hands, knees, elbows and eyes. Tendons in the heel and hand may be
thickened, and a gray or white ring may develop around the iris of the eye.
Cholesterol
tests
The
National Heart, Lung, and Blood Institute recommends that a person's first
cholesterol screening should occur between the ages of 9 and 11, and then be
repeated every five years after that. Earlier or more-frequent screenings may
be suggested for families with a history of childhood heart disease.
In the
United States, cholesterol levels are measured in milligrams (mg) of
cholesterol per deciliter (dL) of blood. In Canada and many European countries,
cholesterol levels are measured in millimoles per liter (mmol/L).
Adults
who have familial hypercholesterolemia usually have low-density lipoprotein
(LDL) cholesterol levels over 190 mg/dL (4.9 mmol/L). Children who have the
disorder often have LDL cholesterol levels over 160 mg/dL (4.1
mmol/L). In severe cases, LDL cholesterol levels can be over 500
mg/dL (13 mmol/L).
LDL cholesterol is also
known as bad cholesterol because it can build up in the walls of the arteries,
making them hard and narrow. This can increase the risk of heart attacks.
Genetic testing
A
genetic test can confirm familial hypercholesterolemia, but it's not always
necessary. However, a genetic test can help determine whether other family
members also may be at risk.
If one
parent has familial hypercholesterolemia, each child has a 50% chance of
inheriting it. Inheriting the altered gene from both parents can result in a
rarer and more severe form of the disease.
If you are diagnosed with
familial hypercholesterolemia, doctors usually recommend that your first-degree
relatives — such as siblings, parents and children — be checked for the
disorder. This will allow treatment to begin early, if needed.
Treatment
Familial hypercholesterolemia
treatment focuses on reducing the extremely high levels of LDL (bad)
cholesterol. This helps lower the risk of heart attack and death.
Medications
Most people with familial
hypercholesteremia will need to take more than one medication to control
their LDL cholesterol levels. Options include:
·
Statins. These drugs block a
substance the liver needs to make cholesterol. Examples include atorvastatin
(Lipitor), fluvastatin (Lescol XL), lovastatin (Altoprev), pitavastatin
(Livalo), pravastatin, rosuvastatin (Crestor) and simvastatin (Zocor).
·
Ezetimibe (Zetia). This
drug limits the absorption of cholesterol contained in the food you eat. If
statins don't reduce cholesterol enough, doctors often suggest adding ezetimibe.
·
PCSK9 inhibitors. These
newer drugs — alirocumab (Praluent) and evolocumab (Repatha) — help the liver
absorb more LDL cholesterol, which lowers the amount of cholesterol
circulating in the blood. They're injected under the skin every few weeks and
are very expensive.
Other
treatments
In severe cases, people with
familial hypercholesterolemia may also need to periodically undergo a procedure
that filters the excess cholesterol from their blood. Some may need liver
transplants.
Self
care
Healthy-lifestyle habits also
can help reduce the risk of heart disease, and some may lower your cholesterol:
·
Lose extra pounds. Losing
weight can help lower cholesterol.
·
Eat a heart-healthy diet. Focus
on plant-based foods, including fruits, vegetables and whole grains. Limit
saturated fats and trans fats.
·
Exercise regularly. With
your doctor's OK, work up to at least 30 minutes of moderate-intensity exercise
five times a week.
·
Don't smoke. If
you smoke, find a way to quit.
0 Comments