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Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the
Emil M deGoma1, Zahid S Ahmad1, Emily C O'Brien1
1From the University of Pennsylvania, Philadelphia (E.M.d., D.J.R.); University of Texas Southwestern, Dallas (Z.S.A.); Duke Clinical Research Institute, Durham, NC (E.C.O., P.S., M.T.R.); The FH Foundation, South Pasadena, CA (I.K., C.D.A., K.W.); New York University School of Medicine (C.B.N.); Mid America Heart Institute, Kansas City, MO (Y.P.); Preventive Cardiology Inc, Boca Raton, FL (S.J.B.); Massachusetts General Hospital, Boston (L.C. Hemphill); The Rogosin Institute, New York, NY (L.C. Hudgins); Nemours Cardiac Center, Wilmington, DE (S.S.G.); Thomas Jefferson University Hospital, Philadelphia, PA (D.D.); West Virginia University, Morgantown (W.N.); Baylor College of Medicine, Houston, TX (C.M.B.); Vanderbilt University School of Medicine, Nashville, TN (M.F.L.); Oregon Health and Science University, Portland, OR (P.B.D., M.D.S.); University of Kansas Medical Center (P.M.M.); and Stanford University, CA (J.W.K.).
Insights
Patients with familial hypercholesterolemia (FH) are diagnosed late and undertreated, leading to high rates of coronary heart disease. Earlier diagnosis and consistent lipid-lowering therapy are crucial for better cardiovascular outcomes.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Familial hypercholesterolemia (FH) poses a significant cardiovascular disease burden in the US.
- Treatment patterns and disease burden in FH patients are not well-documented.
- The CASCADE-FH Registry was established to address this knowledge gap.
Purpose of the Study:
- To describe the cardiovascular disease burden and treatment patterns in US patients with FH.
- To identify factors associated with coronary heart disease and LDL-C reduction in FH patients.
Main Methods:
- Cross-sectional analysis of 1295 adult heterozygous FH patients from the CASCADE-FH Registry.
- Data collected from 11 US lipid clinics.
- Analysis of demographic, clinical, and treatment data.
Main Results:
- Median age at FH diagnosis was 47 years, and at lipid-lowering therapy initiation was 39 years.
- 36% of patients had prevalent coronary heart disease; 61% had modifiable risk factors.
- Median untreated LDL-C was 239 mg/dL; at enrollment, it was 141 mg/dL.
- Only 25% achieved LDL-C <100 mg/dL, and 41% achieved ≥50% LDL-C reduction.
- Diabetes and hypertension were associated with prevalent coronary heart disease.
- High-intensity statin use and multiple LDL-lowering medications improved LDL-C reduction.
Conclusions:
- FH patients are diagnosed late, with significant coronary heart disease prevalence and risk factors.
- Inadequate LDL-C lowering is common, highlighting the need for earlier diagnosis and treatment.
- Improved adherence to guideline-recommended therapies and risk factor management are essential.
Background:
Cardiovascular disease burden and treatment patterns among patients with familial hypercholesterolemia (FH) in the United States remain poorly described. In 2013, the FH Foundation launched the Cascade Screening for Awareness and Detection (CASCADE) of FH Registry to address this knowledge gap.
Methods And Results:
We conducted a cross-sectional analysis of 1295 adults with heterozygous FH enrolled in the CASCADE-FH Registry from 11 US lipid clinics. Median age at initiation of lipid-lowering therapy was 39 years, and median age at FH diagnosis was 47 years. Prevalent coronary heart disease was reported in 36% of patients, and 61% exhibited 1 or more modifiable risk factors. Median untreated low-density lipoprotein cholesterol (LDL-C) was 239 mg/dL. At enrollment, median LDL-C was 141 mg/dL; 42% of patients were taking high-intensity statin therapy and 45% received >1 LDL-lowering medication. Among FH patients receiving LDL-lowering medication(s), 25% achieved an LDL-C <100 mg/dL and 41% achieved a ≥50% LDL-C reduction. Factors associated with prevalent coronary heart disease included diabetes mellitus (adjusted odds ratio 1.74; 95% confidence interval 1.08-2.82) and hypertension (2.48; 1.92-3.21). Factors associated with a ≥50% LDL-C reduction from untreated levels included high-intensity statin use (7.33; 1.86-28.86) and use of >1 LDL-lowering medication (1.80; 1.34-2.41).
Conclusions:
FH patients in the CASCADE-FH Registry are diagnosed late in life and often do not achieve adequate LDL-C lowering, despite a high prevalence of coronary heart disease and risk factors. These findings highlight the need for earlier diagnosis of FH and initiation of lipid-lowering therapy, more consistent use of guideline-recommended LDL-lowering therapy, and comprehensive management of traditional coronary heart disease risk factors.
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