Abstract
Objective: To review the existing literature on the prevalence of Huntington’s disease (HD) in the US and Canada and to estimate the number of people in the US currently affected by this disease.
Background: HD is a genetic, neurodegenerative and ultimately fatal disease. Sources frequently state that 30,000 individuals living in the US have HD, but the methodology used to derive this prevalence estimate is unclear.
Design/Methods: We reviewed the literature on HD prevalence in Canada and US post the advent of genetic testing (1993–2019) and calculated a range of persons affected in the US by age-adjusting these prevalence estimates to the US population using 2018 US Census data.
Results: Two studies were identified (Fisher, et al. 2014 and Bruzelius, et al. 2019). Fisher performed a population-based observational study using multiple ascertainment sources and evaluating clinical and genetic data of people with HD in British Columbia (BC), Canada, which yielded an estimated prevalence of 13.7/100,000 (US age-adjusted: 12.7/100,000). Bruzelius conducted a retrospective database analysis of insurance claims of one insurance company and estimated an age-adjusted HD diagnostic frequency of 6.52/100,000. Applying these age-adjusted prevalence rates to the 2018 US census population, we estimated the true HD prevalence in the US to be 41,467, while the number of persons currently diagnosed is at least 21,331.
Conclusions: Adjusting for differences in the BC, and US populations, our assessment indicates that as many as 40,000 US persons may currently have manifest HD. It is probable that many of these patients are undiagnosed. The lower figure (~21,000 patients) may reflect the number of patients currently diagnosed but does not account for the HD prevalence in uninsured individuals. With the advent of disease-modifying treatments, HD disease awareness and diagnosis rates may increase, enabling improved detection of patients.
Disclosure: Dr. Yohrling has nothing to disclose. Dr. Raimundo has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Genentech Inc.. Dr. Crowell has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Employee of F. Hoffmann-La Roche.. Dr. Lovecky has nothing to disclose. Dr. Vetter has nothing to disclose. Dr. Seeberger has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Avexis, Reata Pharmaceuticals. Dr. Seeberger has received research support from University of Colorado, Biohaven, HSG, Vaccine: X, PSG, APDM.
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