Dercum’s Disease: Estimating the Prevalence of a Rare Painful Loose Connective Tissue Disease

Abstract

Background: In the USA, the Orphan Drug Act of 1983 defines a rare disease as affecting under 200,000 individuals. Dercum’s disease (DD) is a loose connective (adipose) tissue disease characterized by painful lipomas. While considered a rare disease, the prevalence of DD has not been systematically assessed previously. The objective of this paper is to estimate the prevalence of DD to determine if it is rare or not. Results: Estimates of prevalence of DD using PubMed, the UK Biobank, the US Agency for Health Research and Quality Healthcare Cost and Utilization, physician practices, social media forums and internet searches found the prevalence of DD to be less than 200,000 individuals in the US. These prevalence likely overestimate the disease; however, underestimation may also occur because DD is not well known and may be misdiagnosed. Conclusion: DD meets requirements of the Orphan Drug Act to be classified as a rare disease. Further research should focus on representative population samples in the USA to better estimate the prevalence of DD. Estimating the prevalence is an important first step to increase recognition, research efforts and patient care for people living with DD.

Incidence, prevalence, and outcome of moderate to severe neurotrophic keratopathy in a German tertiary referral center from 2013 to 2017

“…Lambiase et al estimated the overall prevalence of NK to 1.6/10,000, based on the assumption, that NK affects 6% of patients with herpetic keratitis (prevalence: 149/100,000), 12.8% with herpes zoster keratitis (prevalence: 26/100,000), and 2.8% undergoing surgical procedures for trigeminal neuralgia (prevalence: 1.5/10,000) [4]. While our study and Generally, establishing epidemiological data on rare diseases is a known problem [12]. For example, as described earlier, Lambiase et al estimate the prevalence of NK in parts on the assumption that NK affects 6% of patients with herpetic keratitis (prevalence: 149/100,000).…”

Welcome to Future Rare Diseases

“…Karen Herbst (PC and Total Lipedema Care, CA, USA) et al used a variety of sources in their Research Article to estimate the prevalence of Dercum's disease (DD), a rare loose connective tissue disorder characterized by painful lipomas or angiolipomas [7]. It was concluded that DD meets the requirements of the Orphan Drug Act to be classified as a RD.…”