title: Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone.
abstract: Dunnigan-type familial partial lipodystrophy (FPLD) is caused by mutations in LMNA, the gene that encodes nuclear lamins A and C. FPLD is characterized by peripheral fat loss, excess central adiposity, insulin resistance, and hyperlipidaemia, which are difficult to treat. We present our 2 years' experience of treatment with rosiglitazone in a subject with FPLD. Insulin requirement decreased significantly from 240 IU/day to 76 IU/day (range 20-240 IU/day) and serum triglyceride concentration was lowered from 13.7 +/- 14.4 mmol/l to 4.5 +/- 4.3 mmol/l and remained stable. Mean HbA(1c) prior to rosiglitazone therapy was 9.4 +/- 1.32% and decreased to 7.4 +/- 0.6% during therapy with rosiglitazone. This case demonstrates the benefits of PPARgamma-agonists on glycaemic control and dyslipidaemia in a patient with FPLD. This in turn implies that PPARgamma may play a pathophysiological role in FPLD.
authors.affiliation: Department of Gastroenterology, Hepatology and Endocrinology, Humboldt University, Charité Campus Mitte, Schumannstrasse 20/21, 10117 Berlin, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Lüdtke
authors.forename: K
authors.initials: K
authors.lastname: Heck
authors.forename: J
authors.initials: J
authors.lastname: Genschel
authors.forename: H
authors.initials: H
authors.lastname: Mehnert
authors.forename: S
authors.initials: S
authors.lastname: Spuler
authors.forename: H J
authors.initials: HJ
authors.lastname: Worman
authors.forename: H H-J
authors.initials: HH
authors.lastname: Schmidt
mesh_terms: D000368:Aged; D003923:Diabetes Mellitus, Lipoatrophic / Q000097:blood / Q000188:drug therapy*; D017809:Fatal Outcome; D005260:Female; D006442:Glycated Hemoglobin / Q000032:analysis; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use*; D047495:PPAR gamma / Q000819:agonists* / Q000627:therapeutic use; D000077154:Rosiglitazone; D045162:Thiazolidinediones / Q000627:therapeutic use*; D014280:Triglycerides / Q000097:blood
chemical_list: D006442:Glycated Hemoglobin; D007004:Hypoglycemic Agents; D047495:PPAR gamma; D000077154:Rosiglitazone; D045162:Thiazolidinediones; D014280:Triglycerides