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Dec 09, 2013

Increasing Awareness for Familial Hypercholesterolemia

Recent study identifies the need to increase awareness for FH, a common genetic disorder that increases risk for heart disease at a young age.

Familial hypercholesterolemia (FH) is a genetic disorder causing high cholesterol which affects as many as one in 300 individuals. According to a paper recently published in Clinical Cardiology, few people, including cardiologists, are aware of this common and potentially life-threatening condition.

More than 600,000 Americans are currently affected by FH, many of whom don’t even know it. FH begins at birth and happens when the body is unable to remove the low density lipoprotein (“bad”) cholesterol from the blood. When the body can’t eliminate bad cholesterol, it builds up in the arteries and can cause heart disease earlier in life than normal. Left undiagnosed and untreated, individuals with FH are up to 20 times more likely to suffer a cardiac event. Those with the most severe form of FH may suffer heart attacks at an extremely young age, even in childhood.

That’s why JoAnne M. Foody, MD, FACC, a preventive cardiologist at Brigham and Women’s Hospital in Boston, set out to determine how much health care providers know about this common condition and what we can do to increase awareness. After reviewing a 2011 survey of cardiologists performed by the American College of Cardiology, it became apparent that there is a lack of awareness about FH among experts. In this survey, only 10% of cardiologists reported being very or extremely confident about their understanding of FH and most cardiologists were unaware of how common FH is in the United States. More than half didn’t realize that someone with a first-degree relative (parent, full sibling or child) with FH has a 50% chance of having the disease.

But the general public shares a lack of awareness about FH as well. Many patients with FH don’t realize they have the condition and only see a cardiologist after they’ve suffered a serious heart event, like a heart attack. Dr. Foody hopes that with improved screening, diagnosis and treatment, we can change these statistics, but to do so, we need to increase awareness among both patients and providers. Early detection is key when it comes to the management of FH and it’s important that everyone—patients and doctors alike—spread the word about how common and serious this condition can be.

Follow Dr. Foody on Twitter @FoodyMD

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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