title: A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics.
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.
authors.affiliation: Department of Endocrinology Diabetology and Nutrition, Groupement Hospitalier Lyon Sud, Fédération Hospitalo-Universitaire DO-IT, Hospices Civils de Lyon, Pierre Bénite, France. Electronic address: julien.vouillarmet@chu-lyon.fr.
authors.forename: Julien
authors.initials: J
authors.lastname: Vouillarmet
authors.affiliation: Department of Endocrinology Diabetology and Nutrition, Groupement Hospitalier Lyon Sud, Fédération Hospitalo-Universitaire DO-IT, Hospices Civils de Lyon, Pierre Bénite, France; Université Claude Bernard, Lyon, France.
authors.forename: Martine
authors.initials: M
authors.lastname: Laville
mesh_terms: D050218:Body Fat Distribution; D048909:Diabetes Complications / Q000175:diagnosis / Q000473:pathology; D003920:Diabetes Mellitus / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D020738:Leptin / Q000097:blood; D052496:Lipodystrophy, Familial Partial / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D009223:Myotonic Dystrophy / Q000150:complications / Q000175:diagnosis / Q000473:pathology
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A; D020738:Leptin
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