Details

Autor(en) / Beteiligte

• Chan, Darwin, BA, MS
• McIntyre, Adam D., HBSc
• Hegele, Robert A., MD
• Don-Wauchope, Andrew C., MBBCh, MD

Titel

Familial partial lipodystrophy presenting as metabolic syndrome

Ist Teil von

• Journal of clinical lipidology, 2016-11, Vol.10 (6), p.1488-1491

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2016

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.