Patients with familial hypercholesterolemia are getting screened, but too many get suboptimal treatment

Only half of adults with familial hypercholesterolemia (FH) are receiving statin treatment, and even fewer are being treated with high-intensity statin therapy, according to data reported in Circulation. Adults with FH are being screened for dyslipidemia at a high rate, but they remain undertreated.

Researchers led by Emily M. Bucholz, MD, PhD, MPH, from Boston Children’s Hospital, Boston, MA, examined data from 42,471 adults ages 20 years and older in the 1999 to 2014 National Health and Nutrition Examination Survey (NHANES). Variables included self-reported lipid screening, awareness of hypercholesterolemia and statin use, and statin therapy among adults with FH and severe dyslipidemia.

Dyslipidemia and FH increase the risk of coronary heart disease by 5- to 13-fold, respectively, compared with the general population, the authors noted. However, with adequate statin therapy, the risk is “greatly reduced.”

Of those in the sample, 6.6% had severe dyslipidemia, defined as a low-density lipoprotein (LDL) cholesterol value ≥190 mg/dL. From the participants with severe dyslipidemia, 7.2% met the definition for definite or probable FH as established by a modified version of the Dutch Lipid Clinic (DLC) criteria.

The modified version of the DLC criteria assigns points based on LDL cholesterol levels, a personal history of atherosclerotic cardiovascular disease (ASCVD), and a family history of early atherosclerotic disease in a first-degree relative. Overall, 0.47% (1 in 212 individuals) of the total population met the definition for definite/probable FH.

More than 80% of the adults with FH or severe dyslipidemia reported having their cholesterol measured and were aware of those measurements. However, the proportion with FH who were being treated with a statin was only 52.3%, and the proportion with severe dyslipidemia who were receiving statin treatment was even lower, at 37.4%.

Of those with FH being treated with a statin, less than one-third (30.3%) were prescribed a high-intensity statin. Roughly the same percentage with severe dyslipidemia (37.4%) were prescribed a high-intensity statin.

Between 1999/2000 and 2013/2014, the prevalence of statin use among persons with severe dyslipidemia in NHANES increased from 29.4% to 47.7%. The trend in adults with FH was similar, although the sample size was too small to draw definite conclusions, the authors stated.

“Although the low statin rates may be attributable in part to lower screening rates in certain populations (eg, younger and uninsured adults), the disconnect between screening and treatment rates was most pronounced in these populations,” wrote Bucholz and colleagues.

Factors independently associated with hypercholesterolemia awareness were older age, absence of poverty, having a usual source of health care, obesity, diabetes mellitus, and having a personal history of early ASCVD. Factors independently associated with statin use were similar and included older age, being fully insured, having a usual source of care, diabetes mellitus, hypertension, and having a personal history of early ASCVD.

As adults 20 to 39 years old are less likely to be insured and have a usual source of care when compared with older adults, they may be at particularly high risk of being undertreated, the authors believe.

“This study highlights an opportunity and an imperative to improve statin treatment rates in this high-risk population,” the authors concluded. “Although rates of statin prescription have been steadily increasing over time, the rate of growth over the past decade has been slow, and there remains a significant gap in treatment rates.”

To read more about this study, click here.