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
- 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.