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Apr 25, 2018

Study Highlights Gaps in Screening and Treatment of Familial Hypercholesterolemia

Only half of patients with a dangerous cholesterol disorder are receiving proper treatment, shows U.S. study.

Despite the proven benefits of statins, only half of patients with a dangerous cholesterol disorder are taking this lifesaving medication, based on a recent analysis of U.S. data from 1999–2014.

Published in the American Heart Association journal Circulation, this study looked at screening and treatment rates among patients with familial hypercholesterolemia. Familial hypercholesterolemia, often referred to as FH, is a genetic disorder that causes extremely high cholesterol levels beginning at birth.

Since FH dramatically increases risk for developing heart disease at a young age, screening and treatment are key. However, it’s unknown how many patients are currently screened and treated for this serious genetic condition.

To learn more, researchers analyzed data from the National Health and Nutrition Examination Survey, which tracks the health and lifestyle of the U.S. population. The recent study included nearly 42,500 U.S. adults who completed health surveys between 1999 and 2014.

According to authors, participants were representative of the 212 million adults over the age of 20 during this time period.

Overall, researchers found that 0.47% of participants had FH, which represents nearly 1 million adults. An additional 6.6% of participants had dangerously high cholesterol levels, referred to as severe dyslipidemia.

Severe dyslipidemia was defined as having a low-density lipoprotein or “bad” cholesterol of 190 mg/dL or greater.

Fortunately, over 80% of patients with FH or severely high cholesterol were aware of their condition, answering yes to the question “Have you ever been told by a doctor or other health professional that your blood cholesterol level was high?”.

However, very few patients reported taking cholesterol-lowering statins for their condition. Only half of participants with FH were taking any statins, and only one-third of those individuals were on optimal doses. Additionally, only 38% of patients with severe dyslipidemia were taking any type of cholesterol-lowering statins.

Authors note that statin use did increase over the study period, but still falls wildly short of current recommendations. Statins are strongly recommended for patients with FH, as they help keep cholesterol in check and reduce risk for heart events. Findings suggest that only half of patients with FH are on recommended therapy; many are not even taking the optimal dose.

The take-home message, according to authors, is the importance of both screening and treatment for cholesterol disorders.

Familial hypercholesterolemia increases risk for heart disease by thirteen-fold and currently affects an estimated 1 in 250 U.S. adults. Thus, it’s important that patients are not only screened for cholesterol disorders but receive proper treatment, when necessary, to control cholesterol and reduce cardiovascular risk.

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.

Infographic: FH


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