Article
Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks.
EBioMedicine - 1 May 2026
Sharp Luke N, Colclough Kevin, Murray Leech Jacques, Evans Amy V, Hattersley Andrew T, Weedon Michael N, Brown Rebecca J, Patel Kashyap A
Abstract excerpt
BACKGROUND: Monogenic lipodystrophy is a metabolic disorder that predisposes to diabetes and cardiovascular disease, yet its true prevalence and clinical spectrum remain uncertain. We used a genotype-first approach with an aim to estimate the prevalence, phenotypic spectrum, risk of cardiometabolic disorders and all-cause mortality associated with monogenic lipodystrophy in the population. We also assessed how...
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