People with familial lipid syndrome are born with high LDL — or "bad" — cholesterol and their bodies can't remove it. This leads to an increased risk of heart disease and abnormally high LDL levels that diet and exercise alone can't lower.
When doctors detect and treat the disorder early, the outlook is great.
To refer a patient for a comprehensive evaluation, call 1-877-426-8762 or email HeartandVascular@upmc.edu.
For appointment scheduling, call 412-647-6000.
Lipids are the fats in your body, such as cholesterol and triglycerides.
Your body needs some lipids, but high amounts of LDL cholesterol can cause:
LDL cholesterol, or low-density lipoprotein, carries cholesterol to the cells that need it. But sometimes it carries too much cholesterol, which builds up in the artery walls and can cause blockages. You may hear LDL called the “bad cholesterol."
HDL cholesterol, or high-density lipoprotein, is the “good cholesterol" that hunts down and absorbs bad cholesterol. It then carries it to the liver to flush it from the body.
Familial lipid syndrome means your body doesn't process cholesterol correctly, which can lead to severely high levels of LDL cholesterol or triglycerides.
Doctors label lipid disorders based on the type of high cholesterol you have.
Causes of the inherited disorder include gene mutations:
About one in every 250 people have the genetic mutation for a familial lipid disorder. It occurs equally in men and women.
For someone with the disorder, LDL levels are high from birth or childhood. Without treatment, levels get higher over time.
Most often, a child acquires the condition from one parent. But sometimes, they may also inherit it from both.
It's rare, but when both parents pass on the gene to their child, LDL levels are dangerously high. It may require more intensive treatment sooner in life.
People with a familial lipid syndrome are at five times more risk for heart disease and have increased risk of:
UPMC Heart and Vascular Institute has experts who diagnose and treat familial lipid syndromes. Our systems approach means your entire family is considered and, if needed, cared for.
Our genetic counselors, for example, test family members of those with familial lipid syndrome to assess their genetic likelihood of developing the syndrome. They also work directly with cardiologists to develop treatment plans for patients and their families.
Familial lipid syndrome isn't common, so doctors may not suspect it right away.
It's vital you know the signs and when to see a doctor.
Without a blood test, familial lipid syndrome can be hard to spot. Not all people have visible symptoms.
Some signs and symptoms of familial lipid syndrome include:
Your doctor will make a diagnosis based on:
If a family member has a confirmed lipid disorder diagnosis, your doctor might suggest genetic testing to learn if you have it.
We can assess your child early (between 6 and 12 years old) if you have familial lipid syndrome or high cholesterol.
When doctors detect and treat the disease early, the outlook is excellent.
The main goal of treatment is to keep cholesterol levels within a normal range to prevent heart problems. Treatment is ongoing and can start in kids as young as 8 years old.
A healthy diet and active lifestyle can help manage the disease, but they aren't enough to lower LDL levels on their own. The most common treatment is medicine.
In cases of extremely high cholesterol that needs prompt care, your doctor may suggest LDL apheresis.
Much like dialysis, you'll have treatment every few weeks to flush LDL cholesterol from your blood.