A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics

Can J Diabetes. 2016 Oct;40(5):376-378. doi: 10.1016/j.jcjd.2015.12.007. Epub 2016 Mar 22.

Abstract

We discuss the case of a 56-year-old woman who presented with diabetes from the age of 24. The diagnosis of familial partial lipodystrophy was made after the discovery of the lamin A/C gene 20 years later. The diagnosis enabled the detection of a severe cardiac rhythm disorder with the need for an implantable defibrillator. This disease is a rare disorder characterized by an altered body fat repartition, cardiac rhythm anomalies and muscular dystrophy.

Keywords: cardiac conduction disorder; diabetes; diabète; douleur musculaire; lamin A; lamine A; lipodystrophie partielle familiale; muscle pain; partial familial lipodystrophy; troubles de la conduction cardiaque.

Publication types

  • Case Reports

MeSH terms

  • Body Fat Distribution
  • Diabetes Complications / diagnosis
  • Diabetes Complications / pathology
  • Diabetes Mellitus / diagnosis*
  • Diabetes Mellitus / genetics
  • Diabetes Mellitus / physiopathology
  • Diagnosis, Differential
  • Female
  • Humans
  • Lamin Type A / genetics
  • Leptin / blood
  • Lipodystrophy, Familial Partial / complications
  • Lipodystrophy, Familial Partial / genetics*
  • Lipodystrophy, Familial Partial / pathology
  • Middle Aged
  • Mutation
  • Myotonic Dystrophy / complications
  • Myotonic Dystrophy / diagnosis
  • Myotonic Dystrophy / pathology

Substances

  • LMNA protein, human
  • Lamin Type A
  • Leptin