Observational studyEBioMedicine2026
Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks.
Observational study in EBioMedicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundMonogenic 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 these clinically unselected cases differ from clinically identified cases.
methodsWe analysed whole-genome sequencing data from 490,414 UK Biobank participants to identify pathogenic variants in 23 lipodystrophy genes. Individuals carrying a pathogenic genotype were compared with non-carriers for anthropometric traits, metabolic biomarkers, cardiometabolic outcomes, and all-cause mortality. We also compared UK Biobank cases with a clinically identified cohort of 58 individuals with monogenic lipodystrophy.
findingsWe identified 31 carriers of pathogenic monogenic lipodystrophy variants, giving a prevalence of 1 in 15,820 (95% CI: 1 in 23,282-1 in 11,145). Variants in PPARG and LMNA were most frequent, and prevalence did not differ by sex (P = 0.37). Compared with non-carriers, carriers had similar BMI but lower total body fat percentage (24.7% vs. 31.4%, P = 1.25 × 10
interpretationMonogenic lipodystrophy is more common than currently recognised and most cases remain undiagnosed despite significant cardiometabolic and mortality risks. These findings highlight the value of genotype-first approaches in studying lipodystrophy and support the need for earlier recognition and treatment in clinical practice.
fundingThis work is funded by Diabetes UK (19/0005994 and 21/0006335), the MRC (MR/T00200X/1) and the Wellcome Trust (219606/Z/19/Z).
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