Do you have hereditary cholesterol?
If any of your immediate
family members have high cholesterol, you could be at risk of developing the
disease. But don't stress just yet. Although hereditary high cholesterol is a
real concern, your parent's health history doesn't necessarily have to
determine your fate.
The ABCs of cholesterol
Cholesterol is a fatty,
waxy substance that naturally exists in your body's cells. It helps digest
foods, create vitamin D, and produce certain hormones needed to maintain good
Cholesterol is made up of
two main parts: high-density lipoprotein (HDL) and low-density lipoprotein
(LDL). HDL, also known as good cholesterol, helps protect your health. LDL, the
bad cholesterol, is what leads to problems.
particularly those with saturated fats, can prompt your body to produce more
cholesterol than your body needs. When this happens, the extra cholesterol
combines with other substances to form plaque. As plaque builds, it begins to
narrow or block your arteries, making it difficult for blood to pass through.
Blocked arteries raise your risk for heart attack, stroke, and other serious
Cholesterol in the family
People who are at average
risk of developing high cholesterol can usually avoid problems by making
healthy lifestyle choices — eating a healthy diet and getting regular exercise. But for those who have
hereditary high cholesterol, it doesn't matter what they eat or how often they
work out. Their high cholesterol levels are due to a genetic condition known as
hypercholesterolemia (FH), a disorder inherited from a parent, or in very rare cases,
both parents. People with FH need to carefully manage the condition. This often
includes taking medication in addition to practicing a healthy lifestyle.
High LDL levels are most
often the result of poor diet, lack of exercise, and other lifestyle factors.
But people with FH are born with high LDL levels.
In otherwise healthy
people, LDL receptor genes help keep LDL in check.
The body either uses the LDL, stores it, or eliminates it. For people with FH,
a mutated receptor gene is often the cause. This mutation prevents the body
from processing LDL as it should, resulting in a faster buildup of LDL in the
Symptoms of inherited cholesterol
cholesterol early allows treatment to start before symptoms begin. If you have
a parent with FH, genetic testing for the condition is a good idea because many people don't have symptoms of
When symptoms do occur, you may
experience the following:
- A painful or swollen Achilles tendon
- Calf muscle cramping when walking
- Chest pain experienced at an early age
- LDL cholesterol levels higher than 190 mg/dL (160 mg/dL in children)
- Gray, yellow, or white deposits outside of the cornea
- Nonhealing sores on your toes
- Sudden arm or leg weakness, difficulty talking, and other stroke-like symptoms
- Unexplained bumps or lumps around the knees, elbows, or knuckles
- Yellow areas near the eyes
Identifying inherited cholesterol
According to the American Heart
Association, 1.3 million Americans have
only 1 in 10 know they have it. People with untreated FH have a 20-fold higher risk for heart disease, and men are at risk of
developing heart disease 10 to 20 years earlier than women. With these stats in mind, early
detection and treatment of FH is vital to lowering your risk of developing
life-threatening cardiovascular diseases.
Clinicians can detect inherited high
cholesterol with the following:
- A physical examination and evaluation of personal and family health history
- Blood tests to measure cholesterol
- Genetic testing to look for mutated genes, which are common with FH
Managing high hereditary cholesterol
A healthy lifestyle is essential
for managing hereditary cholesterol. Without a healthy diet and regular
exercise, controlling FH is more difficult. However, healthy lifestyle choices
aren't enough to keep FH under control. Most people with inherited cholesterol
issues need to take prescription medicine to manage the condition.
Medications called statins, which help lower LDL and
raise HDL cholesterol levels, can effectively manage FH. In the U.S., there are
10 different types of statins clinicians can prescribe to patients with high
cholesterol. Sometimes, finding the best one can take time, as each person
responds differently to each medication. When statins work effectively, they
help reduce cholesterol levels in the blood, which slows the buildup of plaque
in the arteries.
Your provider may
prescribe other cholesterol-lowering medications, including one that reduces
how much cholesterol your intestines absorb, ultimately lessening the amount of
cholesterol circulating in your blood.
LDL apheresis is another
treatment available, but it's prescribed for only the most extreme cases of
inherited high cholesterol. With this therapy, every few weeks you're connected
to a machine that removes LDL cholesterol from your blood.
Reducing cholesterol begins now
If hereditary cholesterol
problems run in your family, take action today. Work
with your provider to keep an eye on your cholesterol. Consider genetic testing
and talk about your medication options.
If you do have FH, let your loved ones know so they can also watch their cholesterol and reduce the risk of developing cardiovascular disease. You're never too young to think about FH. In fact, children who have FH can develop dangerously high cholesterol levels at a young age and may need to start taking medication to manage the condition as early as 8 years old. Talk with a pediatrician if you suspect your child might have inherited high cholesterol.