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Leptin replacement therapy (LRT) has drastically improved the prognosis of patients with lipodystrophy, but pro‐inflammatory properties of leptin could become evident in the long term. Here, we report a 30‐year‐old Japanese woman with generalized lipodystrophy‐associated progeroid syndrome due to a heterozygous  LMNA  variant (c.29C > T; p.T10I), who was diagnosed with severe aortic stenosis (AS) after more than a decade of LRT, which required transcatheter aortic valve implantation. Given her marked hypoadiponectinemia and the  LMNA  variant, our patient might have been susceptible to progeria‐associated disorders, including aortic stenosis, which could have been exaggerated by the prolonged ‘imbalanced adipokines’ caused by LRT between pro‐inflammatory leptin and anti‐inflammatory adiponectin. Thus, long‐term LRT could be associated with AS in patients with the  LMNA  variant to cause generalized lipodystrophy‐associated progeroid syndrome and hypoadiponectinemia.

journal of diabetes investigation

Severe aortic stenosis during leptin replacement therapy in a patient with generalized lipodystrophy‐associated progeroid syndrome due to an  LMNA  variant: A case report