Dercum’s Disease: Estimating the Prevalence of a Rare Painful Loose Connective Tissue Disease
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. This paper aims to estimate the prevalence of DD to determine if it is rare or not.
Estimates of the 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. This prevalence likely overestimates the disease; however, underestimation may also occur because DD is not well known and may be misdiagnosed.
DD meets the Orphan Drug Act requirements 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.
People with Dercum’s disease (DD) have painful lipomas in the fat on their bodies. DD is thought to be rare. A rare disease as defined by the Orphan Drug Act of 1983 means that less than 200,000 people have the disease. The authors of this paper tried to determine whether DD was truly a rare disease or not. They searched published scientific papers, a database from the UK, the US Agency for Health Research and Quality Healthcare Cost and Utilization, questioned physicians, searched social media forums, performed internet searches and made estimates at how many people are affected with DD. The authors determined that DD affects less than 200,000 people in the USA and is therefore a rare disease.
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Natalie Munguia1, B Robert Mozayeni2 , Thomas F Wright3 & Karen L Herbst* Published in Future Rare Diseases 2021 .