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

Autor: Takayoshi Sasako, Hiroko Kadowaki, Takayuki Fujiwara, Satoshi Kodera, Issei Komuro, Takashi Kadowaki, Toshimasa Yamauchi
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Journal of Diabetes Investigation, Vol 13, Iss 9, Pp 1636-1638 (2022)
Druh dokumentu: article
ISSN: 2040-1124
2040-1116
DOI: 10.1111/jdi.13827
Popis: ABSTRACT 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.
Databáze: Directory of Open Access Journals
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