Benedetta Russo, I. Malandrucco, Marika Menduni, Andrea Mari, Caterina Pelosini, Francesco Brancati, Maria Rosaria D’Apice, Fabiana Picconi, S. Frontoni
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The baseline insulin sensitivity and secretion assessment showed strong insulin-resistance with hyperglycemia and elevated insulin secretion. Genetic analysis revealed a missense heterozygous LMNA mutation c.1045 C > T (p. Arg349Trp) that established APS diagnosis with FPLD, so far studied and described in only 10 patients worldwide. The patient was initially treated with metformin, fenofi¬brate, omega-3 and low carb and low fat diet with optimal results on metabolic control related to glycemic and lipid profile; later, liragluti¬de (Glucagon-Like Peptide-1 analog, GLP-1) therapy was added. Du¬ring the 6 month follow-up the anthropometric parameters improved, in particular a significant improvement in body composition with redi¬stribution of fat mass and a reduction of visceral fat and liver volume were observed. The improvements obtained were consolidated and maintained in the following years. However, with disease progression, focal segmental glomerulosclerosis (FSGS) and peripheral neuropathy developed. \nThis case highlights the clinical and metabolic characteristics of this rare form of lipodystrophy and proposes an innovative therapeutic approach to manage the disease.","PeriodicalId":119243,"journal":{"name":"Il Diabete","volume":"3 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Sindrome progeroide atipica con lipodistrofia parziale familiare, dovuta alla mutazione missenso c.1045 C > T (p.Arg349Trp) in eterozigosi del gene LMNA, e diabete mellito di tipo 2\",\"authors\":\"Benedetta Russo, I. Malandrucco, Marika Menduni, Andrea Mari, Caterina Pelosini, Francesco Brancati, Maria Rosaria D’Apice, Fabiana Picconi, S. 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引用次数: 0
摘要
与LMNA基因突变相关的家族性部分脂肪营养不良(FPLD)是一种罕见的脂肪营养不良疾病,其特征是皮下脂肪组织部分缺失,易发生与胰岛素抵抗相关的代谢并发症,包括2型糖尿病(T2D)。最近,这种特殊的表型与非典型类早衰综合征(APS)有关。我们报告一例31岁女性,具有早衰特征,部分脂肪代谢不良,2型糖尿病(T2D),高甘油三酯血症和肝脂肪变性。基线胰岛素敏感性和分泌评估显示强烈的胰岛素抵抗,伴有高血糖和胰岛素分泌升高。遗传分析显示一个错义杂合LMNA突变c.1045C > T (p. Arg349Trp)确定APS诊断为FPLD,迄今为止全球仅在10例患者中进行了研究和描述。患者最初接受二甲双胍、非诺菲酯、欧米伽-3和低碳水化合物低脂肪饮食治疗,在与血糖和血脂相关的代谢控制方面效果最佳;随后,利拉格鲁肽(胰高血糖素样肽-1类似物,GLP-1)治疗加入。在6个月的随访中,人体测量参数得到改善,特别是身体成分的显著改善,脂肪量的重新分布,内脏脂肪和肝脏体积的减少。取得的改进在随后几年得到巩固和维持。然而,随着疾病进展,局灶节段性肾小球硬化(FSGS)和周围神经病变发展。本病例强调了这种罕见形式的脂肪营养不良的临床和代谢特征,并提出了一种创新的治疗方法来控制这种疾病。
Sindrome progeroide atipica con lipodistrofia parziale familiare, dovuta alla mutazione missenso c.1045 C > T (p.Arg349Trp) in eterozigosi del gene LMNA, e diabete mellito di tipo 2
Familial partial lipodystrophy (FPLD) associated with LMNA gene mutations is a rare form of lipodystrophy disorder characterized by partial absence of subcutaneous adipose tissue and predisposition to develop metabolic complications related to insulin-resistance inclu-ding type 2 diabetes mellitus (T2D). Recently, this peculiar phenotype has been associated to atypical progeroid syndrome (APS). We present a case of 31-year-old woman with progeria features, partial lipodystro¬phy, type 2 diabetes mellitus (T2D), hypertriglyceridemia and hepatic steatosis. The baseline insulin sensitivity and secretion assessment showed strong insulin-resistance with hyperglycemia and elevated insulin secretion. Genetic analysis revealed a missense heterozygous LMNA mutation c.1045 C > T (p. Arg349Trp) that established APS diagnosis with FPLD, so far studied and described in only 10 patients worldwide. The patient was initially treated with metformin, fenofi¬brate, omega-3 and low carb and low fat diet with optimal results on metabolic control related to glycemic and lipid profile; later, liragluti¬de (Glucagon-Like Peptide-1 analog, GLP-1) therapy was added. Du¬ring the 6 month follow-up the anthropometric parameters improved, in particular a significant improvement in body composition with redi¬stribution of fat mass and a reduction of visceral fat and liver volume were observed. The improvements obtained were consolidated and maintained in the following years. However, with disease progression, focal segmental glomerulosclerosis (FSGS) and peripheral neuropathy developed.
This case highlights the clinical and metabolic characteristics of this rare form of lipodystrophy and proposes an innovative therapeutic approach to manage the disease.