title: Familial partial lipodystrophy presenting as metabolic syndrome.
abstract: We report the first described case of a heterozygous p.R545H (c.1634 G > A) missense mutation in the LMNA gene with clinical features compatible with Dunnigan-type 2 familial partial lipodystrophy (FPLD2). The case presented as metabolic syndrome to a specialist clinical service and highlights the overlap between FPLD2 and the metabolic syndrome. The associations with type 2 diabetes mellitus, fatty liver disease, polycystic ovarian syndrome, and hypertriglyceridemia are highlighted. The importance of evaluating patients for these associated conditions is discussed, and the potential mechanisms of disease are briefly outlined. The mutation has been previously reported in a heart failure database without a clinical description. The links between heart failure and the clinical condition are briefly considered.
authors.affiliation: School of Medicine, McMaster University, Hamilton, Ontario, Canada.
authors.forename: Darwin
authors.initials: D
authors.lastname: Chan
authors.affiliation: Vascular Biology Group, Robarts Research Institute and Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
authors.forename: Adam D
authors.initials: AD
authors.lastname: McIntyre
authors.affiliation: Vascular Biology Group, Robarts Research Institute and Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
authors.affiliation: Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Lipid Clinic, Hamilton General Hospital, Hamilton, Ontario, Canada. Electronic address: donwauc@mcmaster.ca.
authors.forename: Andrew C
authors.initials: AC
authors.lastname: Don-Wauchope
mesh_terms: D000410:Alanine Transaminase / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D005260:Female; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D052496:Lipodystrophy, Familial Partial / Q000175:diagnosis* / Q000235:genetics; D024821:Metabolic Syndrome / Q000175:diagnosis*; D008875:Middle Aged; D020125:Mutation, Missense
chemical_list: D008076:Cholesterol, HDL; C494847:LMNA protein, human; D034904:Lamin Type A; D000410:Alanine Transaminase
keywords: Dunnigan-type 2 familial partial lipodystrophy; FPLD2; Lamin A/C; Metabolic syndrome