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Severe aortic stenosis during leptin replacement therapy in a patient with generalized lipodystrophy-associated progeroid syndrome due to an LMNA variant: A case report
Journal of Diabetes Investigation ( IF 3.1 ) Pub Date : 2022-05-07 , DOI: 10.1111/jdi.13827
Takayoshi Sasako 1 , Hiroko Kadowaki 2 , Takayuki Fujiwara 3 , Satoshi Kodera 3 , Issei Komuro 3 , Takashi Kadowaki 4 , Toshimasa Yamauchi 1
Affiliation  

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.

中文翻译:

LMNA 变异引起的全身性脂肪营养不良相关早衰综合征患者瘦素替代治疗期间严重主动脉瓣狭窄:病例报告

瘦素替代疗法 (LRT) 极大地改善了脂肪营养不良患者的预后,但从长远来看,瘦素的促炎特性可能会变得明显。在这里,我们报告了一名 30 岁的日本女性,她因杂合LMNA变异 (c.29C > T; p.T10I) 而患有全身性脂肪营养不良相关的早衰综合征,她在超过十年的 LRT,需要经导管主动脉瓣植入术。鉴于她明显的低脂联素血症和LMNA变体,我们的患者可能易患早衰相关疾病,包括主动脉瓣狭窄,这可能被促炎瘦素和抗炎脂联素之间的 LRT 引起的长期“不平衡脂肪因子”夸大了。因此,长期 LRT 可能与LMNA变异患者的 AS 相关,导致全身性脂肪营养不良相关的早衰综合征和低脂联素血症。
更新日期:2022-05-07
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