For some people, high cholesterol is all in the family.

Familial hypercholesterolemia (FH) is a hereditary condition that affects the way the body processes cholesterol. This inherited condition can lead to high LDL or “bad cholesterol” levels from birth, as well as an increased risk of heart disease, early heart attacks and sudden death.

Nearly 90% of people with FH are unaware they have the condition, which can have potentially tragic consequences at an early age. Untreated men experience a 50% chance of a coronary event by age 50 and untreated women have a 30% chance by age 60.

What’s more, you can pass it on to the next generation. If you have FH, each of your children has a 50% chance of inheriting it.

“Early diagnosis and intervention are crucial for managing the risk factors of FH, including high cholesterol and blood pressure,” says Dr. David Kann, a WellSpan cardiologist. “This can help to slow disease progression and reduce the risk of heart attack or stroke.”

The Gene Health Project

WellSpan Health is looking at genetic factors for certain inherited conditions such as FH through the Gene Health Project. WellSpan is joining with other health care systems in partnering in a research project with a company called Helix, a leading population genomics company that works to enable health systems, public health organizations and life sciences companies to accelerate the use of genomic data into patient care and public health decision making. 

Over the next four years, WellSpan will recruit at least 100,000 volunteers age 18 or older to participate in the Gene Health Project. Participants will provide a vial of blood or a saliva sample, from which DNA will be collected and analyzed by Helix. 

Dr. David Kann, in a WellSpan laboatory.

The testing is focusing on what the U.S. Centers for Disease Control has identified as "Tier 1 conditions," because early detection of those diseases could significantly reduce deaths and illness. FH is one of the conditions. The others are a hereditary form of breast and ovarian cancer syndrome, specifically the BRCA1 and BRCA2 genes, and a hereditary type of colorectal cancer known as Lynch Syndrome. 

Your results are positive, now what?

This precision medicine research project is designed to integrate genetic insights into clinical care and research and allow providers to precisely tailor the care of patients and better understand the health of the region, says Dr. Kann, who is also medical director of Precision Medicine at WellSpan, which is designed to offer individualized treatment for each patient, based on their genetic makeup, lifestyle and environment.

In our precision medicine approach, someone who tests for the FH gene could access these services:

• An appointment with a genetic counselor, to discuss and explain the test results.
• An appointment with a lipidologist, a doctor who specializes in diagnosing and treating lipid disorders, such as high cholesterol.
• Access to the services of the WellSpan Advanced Lipid Care Clinic, one of the only formalized lipid clinics in the mid-Atlantic and Northeast region. Patients have access to a comprehensive range of specialized services to diagnose and treat high cholesterol.
• Assistance with making lifestyle changes like diet, exercise and medications to manage cholesterol.

“Knowing you have the condition is just the first step,” Dr. Kann says. “This empowers you to get the most advanced care and treatment for this condition. Ultimately, we are interested in helping people with FH live long and healthy lives.”

Interested in finding out more about your gene health? Go here.