The burden of severe hypercholesterolemia and familial hypercholesterolemia in a population-based setting in the US

Seyedmohammad Saadatagah; Lubna Alhalabi; Medhat Farwati; Magdi Zordok; Ashwini Bhat; Carin Y Smith; Christina M Wood-Wentz; Kent R Bailey; Iftikhar J Kullo

doi:10.1016/j.ajpc.2022.100393

The burden of severe hypercholesterolemia and familial hypercholesterolemia in a population-based setting in the US

Am J Prev Cardiol. 2022 Sep 25:12:100393. doi: 10.1016/j.ajpc.2022.100393. eCollection 2022 Dec.

Authors

Seyedmohammad Saadatagah¹, Lubna Alhalabi¹, Medhat Farwati¹, Magdi Zordok¹, Ashwini Bhat¹, Carin Y Smith², Christina M Wood-Wentz², Kent R Bailey², Iftikhar J Kullo^{1

3}

Affiliations

¹ Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
² Division of Clinical Trials and Biostatistics, Mayo Clinic, Rochester, MN, USA.
³ Gonda Vascular Center, Mayo Clinic, Rochester, MN, USA.

Abstract

Background: Contemporary prevalence, awareness, and control of severe hypercholesterolemia (SH) and familial hypercholesterolemia (FH) and the associated atherosclerotic cardiovascular disease risk in the US are unknown.

Method: Using electronic health records, we assessed the burden of SH and FH in Olmsted County, Minnesota, US, between 2004 and 2015. We defined SH as low-density lipoprotein cholesterol (LDL-C) level ≥190 mg/dl without secondary causes of hypercholesterolemia and FH as a Dutch Lipid Clinic Network score ≥6. Controls were age- and sex-matched individuals with LDL-C level <190 mg/dl.

Results: The age- and sex-adjusted point and period prevalence (age-recursive method) of SH was 4.44% and 8.95%, respectively; 1 in 21 had FH (∼1:233 adults), and 46.2% had a recorded diagnosis. Guideline recommended targets (LDL-C <100 mg/dl and <70 mg/dl in the primary and secondary prevention settings, respectively) were achieved in 33.1% and 21.2% of SH cases, with less women overall achieving the target than men (18.6% vs. 23.7%, p=0.022). After adjustment for conventional risk factors, the hazard ratio for incident coronary heart disease (CHD) in those with SH was 1.21 (1.05-1.39; p=0.010), in those with SH and a family history of CHD was 2.16 (1.57-2.96; p<0.001) and in those with FH was 4.61 (2.66-7.97; p<0.001). The association of SH with CHD was modified by age (p-interaction = 0.015), such that the risk was greater at younger ages.

Conclusions: SH was prevalent and an independent risk factor for incident CHD. Awareness and control were low, highlighting a treatment gap (more prominent in women) that needs to be addressed.

Keywords: ASCVD, atherosclerotic cardiovascular disease; Atherosclerotic cardiovascular disease; CHD, coronary heart disease; CVD, cerebrovascular disease; DLCN, dutch lipid clinic network; Epidemiology; FH, familial hypercholesterolemia; Familial hypercholesterolemia; LDL-C, low-density lipoprotein cholesterol; LLT, lipid lowering therapy; PAD, peripheral artery disease; SH, severe hypercholesterolemia; Severe hypercholesterolemia; Statin.

Abstract

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