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Hope for Familial Hypercholesterolemia

If you’ve been diagnosed with familial hypercholesterolemia (FH), it’s important to begin treatment as soon as possible. The expert team at the AdventHealth Cardiovascular Institute is here to guide you and your family with information, support and personalized care.

Hands holding a tablet with genomics results

Identifying FH With the WholeMe Study

In partnership with personal genomics company Helix, we launched a large-scale DNA study that’s the first of its kind in Florida. This research not only gives participants a unique look at their genes and personal traits — from caffeine metabolism to circadian rhythm — it provides an important screening for familial hypercholesterolemia and the potential for early intervention of developing health conditions.

Understanding Familial Hypercholesterolemia

Risk Factors and Causes

Familial hypercholesterolemia is an inherited disease; if one family member is diagnosed, it’s important that all family members get screened.

Individuals with FH have a high amount of low density lipoprotein (LDL) or “bad” cholesterol due to a mutation in one of the genes that controls the way cholesterol is cleared by the body. This can cause cholesterol to build up in the bloodstream and walls of the arteries, increasing your odds of a heart attack or stroke.

Symptoms

FH often goes undiagnosed because there are typically no visible signs of the disease. High levels of LDL cholesterol that can’t be controlled with lifestyle changes may indicate familial hypercholesterolemia, as well as a family history of early heart attacks, heart disease or high cholesterol.

If LDL levels are very high, there may be some visible symptoms, including:

  • Bumps or lumps around the knuckles, elbows and knees, called xanthomas
  • Swollen or painful Achilles tendons
  • Yellowish areas around the eyes or a white arc near the colored part of the eye
Diagnosis and Treatment

Familial hypercholesterolemia can be diagnosed with a simple blood test. The genetic testing performed through the WholeMe study can confirm a diagnosis of FH.

The earlier you are diagnosed and begin treatment, the better your outlook for a long and healthy life. Your treatment may include one or a combination of medications, a heart-healthy diet low in saturated fat and cholesterol, regular exercise and avoiding tobacco.

Advanced treatments for severe cases may include lipoprotein apheresis (recurring treatment to remove LDL from the blood), Lomitapide (a prescription medication) or a liver transplant.

There is no cure for familial hypercholesterolemia, but trust that your AdventHealth care team is here to support you on your lifelong FH management journey with compassion and an individualized treatment plan.

Contact Your Support Team

If you’re diagnosed with familial hypercholesterolemia, our team of cardiologists is here to help you take preventative action. If you have questions or would like help making appointments, reach out to our genomics care coordinator, Janet Celli, at 407-303-9241 or CFD.CVIGenomics@AdventHealth.com.