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Familial Lipid Syndrome

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.

UPMC Heart and Vascular Institute has experts that diagnose and treat familial lipid syndromes and its complications.

Contact Us

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.

What Is Familial Lipid Syndrome?

"Good" versus "bad" cholesterol

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:

  • Plaque to build up in your blood vessels
  • The arteries to harden
  • Heart disease or stroke

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.

Types of familial lipid disorders

Doctors label lipid disorders based on the type of high cholesterol you have.

  • Familial combined hyperlipidemia: High total cholesterol, high LDL, high triglycerides, and low HDL.
  • Familial defective apolipoprotein B-100: High total cholesterol.
  • Familial dysbetalipoproteinemia: High total cholesterol and high triglycerides.
  • Familial hypertriglyceridemia: High triglycerides.
  • Heterozygous familial hypercholesterolemia: High total cholesterol.

Familial lipid syndrome causes and risks

Causes of the inherited disorder include gene mutations:

  • For the LDL cholesterol receptor
  • In the PCSK9 protein
  • In apolipoprotein B

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:

  • Heart attack
  • Stroke
  • Narrowing of heart valves

Why choose UPMC for familial lipid syndrome care?

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 Symptoms and Diagnosis

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.

Symptoms

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:

  • Swelling in the Achilles tendon from cholesterol deposits
  • Yellowing around the eyes or other areas because of fatty deposits
  • High LDL levels (over 190 mg/dL) or high total cholesterol (over 300 mg/dL)

Diagnosing familial lipid syndrome

Your doctor will make a diagnosis based on:

  • An exam
  • A family history of high cholesterol or coronary artery disease at a young age
  • Blood tests

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.

Familial Lipid Syndrome Treatment

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.

Medicines to lower and control cholesterol

  • Cholesterol-lowering drugs. Statins are the most common and may be the first treatment. You may also need other medicine, such as ezetimibe, to lower LDL levels even more.
  • Bile acid sequestrants. These drugs lessen how much cholesterol your intestines absorb. This means less LDL enters your bloodstream.
  • PCSK9 inhibitors. These shots, rather than pills, target the PCSK9 protein and help the liver's receptors better remove LDL from the blood. PCSK9 shots are a newer treatment option and not yet widely used.

Apheresis

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.