Case Report: Metreleptin Treatment in a Patient With a Novel Mutation for Familial Partial Lipodystrophy Type 3, Presenting With Uncontrolled Diabetes and Insulin Resistance

被引:9
作者
Lambadiari, Vaia [1 ]
Kountouri, Aikaterini [1 ]
Maratou, Eirini [2 ]
Liatis, Stavros [3 ]
Dimitriadis, George D. [4 ]
Karpe, Fredrik [5 ,6 ]
机构
[1] Natl & Kapodistrian Univ Athens, Attikon Univ Hosp, Med Sch, Dept Internal Med 2, Athens, Greece
[2] Natl & Kapodistrian Univ Athens, Attikon Univ Hosp, Med Sch, Dept Clin Biochem, Athens, Greece
[3] Natl & Kapodistrian Univ Athens, Laiko Gen Hosp, Med Sch, Dept Propaedeut & Internal Med 1, Athens, Greece
[4] Natl & Kapodistrian Univ Athens, Sect Med, Med Sch, Athens, Greece
[5] Univ Oxford, Radcliffe Dept Med, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England
[6] Oxford Univ Hosp Trusts, Oxford Biomed Res Ctr BRC, Natl Inst Hlth Res NIHR, Oxford, England
关键词
diabetes mellitus; hypertriglyceridemia; metreleptin; familial partial lipodystrophy; PPARG; insulin resistance; case report; DOMINANT-NEGATIVE MUTATIONS; LEPTIN;
D O I
10.3389/fendo.2021.684182
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background Familial partial lipodystrophy type 3 (FPLD3) is a very rare autosomal dominant genetic disorder which is caused by mutations in the peroxisome proliferator activated receptor gamma (PPARG) gene. It is characterized by a partial loss of adipose tissue leading to subnormal leptin secretion and metabolic complications. Metreleptin, a synthetic analogue of human leptin, is an effective treatment for generalized lipodystrophies, but the evidence for efficacy in patients with FPLD3 is scarce. Case Presentation We present a 61-year-old woman, initially misdiagnosed as type 1 diabetes since the age of 29, with severe insulin resistance, who gradually displayed a more generalized form of lipoatrophy and extreme hypertriglyceridemia, hypertension and multiple manifestations of cardiovascular disease. She was found to carry a novel mutation leading to PPARG(Glu157Gly) variant. After six months of metreleptin treatment, HbA1c decreased from 10 to 7.9% and fasting plasma triglycerides were dramatically reduced from 2.919 mg/dl to 198 mg/dl. Conclusions This case highlights the importance of early recognition of FPLD syndromes otherwise frequently observed as difficult-to-classify and manages diabetes cases, in order to prevent cardiovascular complications. Metreleptin may be an effective treatment for FPLD3.
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页数:8
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