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Apr 13, 2017

New Tool Helps Predict Heart Risks in Patients with Familial Hypercholesterolemia

New tool to guide treatment in patients with a genetic disorder causing dangerously high cholesterol levels.

Doctors can better identify patients with familial hypercholesterolemia in need of aggressive treatment, thanks to the development of a specialized tool that helps estimate patient’s risk for heart disease.

Referred to as SAFEHEART-RE, this tool was part of a recent study published in the American Heart Association journal Circulation. It helps estimate cardiovascular risk in patients with familial hypercholesterolemia—a genetic condition that causes abnormally high cholesterol levels starting at a young age.

Patients with familial hypercholesterolemia, often referred to as FH, have up to 13 times greater risk for the early development of heart disease. Getting patients appropriate treatment is key to reducing risk for heart disease and other serious complications.

To help inform treatment, researchers analyzed data from the SAFEHEART trial, which tracked the health of 2,404 adults with FH in Spain. The study followed participants for an average of five and a half years, collecting data on risk factors and outcomes.

During the study period, roughly 5% of patients suffered non-fatal heart events and an additional 0.5% died from heart events. After analysis, researchers found that simple risk factors like weight, high blood pressure and smoking were strongly associated with participants risk for developing heart disease. Using this data, they developed a robust equation to identify FH patients at high risk for early heart disease. The calculation takes into account a number of risk factors identified through the study, including age, gender, history of heart disease, blood pressure, weight, smoking and cholesterol levels.

The hope, according to authors, is that study findings help guide therapy in patients with FH. Studies show that cholesterol-lowering medication can help improve outcomes and quality of life in patients with FH. However, which patients are most appropriate for aggressive treatment is less clear. By using the new tool to identify patients at highest risk, experts hope more patients will get the treatment they need to prevent life-threatening heart events.

Questions for You to Consider

  • What are symptoms of familial hypercholesterolemia (FH)?
  • Symptoms of FH include fatty skin deposits on or around the hands, elbows, knees, ankles and the eyes, and cholesterol deposits on the eyelids. Individuals with FH may also experience chest pain or other signs of heart disease, even at a young age.
  • How is familial hypercholesterolemia (FH) diagnosed?
  • FH is typically diagnosed through blood tests that measure cholesterol levels, a physical examination and a review of family medical history. Genetic tests may also be used to diagnose FH. Once FH is diagnosed, the goal of treatment is to reduce the risk of heart disease.


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Infographic: FH