Journal Article

Liraglutide use in pediatric type 2 familial partial lipodystrophy caused by LMNA mutation: a case report

Zhang, Ting, Li, Xiaolu, Song, Ting, Yu, Ronghua, Li, Youran, Xiao, Yongmei, Xu, Wuhen

2025

Overview

Background Type 2 familial partial lipodystrophy (FPLD2), or Dunnigan syndrome, is a rare genetic disorder characterized by selective subcutaneous fat loss, metabolic complications, and insulin resistance due to LMNA gene mutations. This case report describes the clinical presentation and treatment of a Chinese family with FPLD2, highlighting liraglutide’s role in glycemic and lipid control. Case presentation The index patient is a 14-year-old girl, presenting with fat accumulation in the neck, loss of subcutaneous fat on the face, arms, legs, and trunk, and metabolic complications including diabetes mellitus with insulin resistance, hepatomegaly, and dyslipidemia. The diagnosis of FPLD2 was confirmed by the identification of a heterozygous mutation c.1456 A > G (p. Lys486Glu) in exon 8 of the LMNA gene. The patient was initially treated with a diabetic diet, metformin, and insulin therapy, but glycemic control was only achieved after introducing liraglutide, resulting in satisfactory control within two months. The variable manifestations of FPLD2 within the family (the proband, her father, and elder sister), all carrying the same LMNA mutation are presented, highlighting the complexity of this genetic disorder. The fast clinical response to liraglutide in our patient suggests a potential therapeutic role for Glucagon-like peptide-1 receptor agonists in the management of metabolic complications in FPLD2. Conclusions This case report underscores the importance of recognizing the variable expressivity of FPLD2 and the potential role of liraglutide in managing glycemic and lipid in pediatric patients. It also highlights the need for further research to explore novel therapeutic strategies for the metabolic complications associated with FPLD2.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Abdomen / Adolescent / Case Report / Case reports / Diabetes / Diagnosis / Diet / Dosage and administration / Drug therapy / Fatty liver / Female / FPLD2 / Genetic aspects / Genotype & phenotype / Glucose / Glycemic control / Humans / Hypoglycemic Agents - therapeutic use / Incretins - therapeutic use / Insulin resistance / Internal Medicine / Lamin Type A - genetics / Lipids / Lipodystrophy / Lipodystrophy, Familial Partial - drug therapy / Lipodystrophy, Familial Partial - genetics / Liraglutide / Liraglutide - therapeutic use / LMNA gene mutation / Medicine / Medicine & Public Health / Metabolic disorders / Mutation / Neck / Pancreatitis / Patients / Pediatric research / Pediatrics / Proteins