RT Journal Article
T1 Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience
A1 Sánchez Iglesias, Sofía
A1 Guillín-Amarelle, Cristina
A1 Castro, Ana
A1 Lage, Mary
A1 Pazos, Marcos
A1 Rial, José Manuel
A1 Araujo-Vilar, David
K1 Genetic lipodystrophy
K1 Berardinelli-Seip syndrome
K1 Familial partial lipodystrophy
K1 Human recombinant leptin
K1 Insulin resistance
K1 Hypertriglyceridemia
K1 Hepatic steatosis
AB Lipodystrophies are a group of diseases mainly characterized by a loss of adipose tissue and frequently associated with insulin resistance, hypertriglyceridemia, and hepatic steatosis. In uncommon lipodystrophies, these complications frequently are difficult to control with conventional therapeutic approaches. This retrospective study addressed the effectiveness of recombinant methionyl leptin (metreleptin) for improving glucose metabolism, lipid profile, and hepatic steatosis in patients with genetic lipodystrophic syndromes. We studied nine patients (five females and four males) with genetic lipodystrophies [seven with Berardinelli-Seip syndrome, one with atypical progeroid syndrome, and one with type 2 familial partial lipodystrophy (FPLD)]. Six patients were children under age 9 years, and all patients had baseline triglycerides levels >2.26 mmol/L and hepatic steatosis; six had poorly controlled diabetes mellitus. Metreleptin was self-administered subcutaneously daily at a final dose that ranged between 0.05 and 0.24 mg/(kg day) [median: 0.08 mg/(kg day)] according to the body weight. The duration of treatment ranged from 9 months to 5 years, 9 months (median: 3 years). Plasma glucose, hemoglobin A1c (Hb A1c), lipid profile, plasma insulin and leptin, and hepatic enzymes were evaluated at baseline and at least every 6 months. Except for the patient with FPLD, metreleptin replacement significantly improved metabolic control (Hb A1c: from 10.4 to 7.1 %, p < 0.05). Plasma triglycerides were reduced 76 % on average, and hepatic enzymes decreased more than 65 %. This study extends knowledge about metreleptin replacement in genetic lipodystrophies, bearing out its effectiveness for long periods of time.
PB Springer
YR 2015
FD 2015
LK http://hdl.handle.net/10347/32241
UL http://hdl.handle.net/10347/32241
LA eng
NO Araujo-Vilar, D., Sánchez-Iglesias, S., Guillín-Amarelle, C. et al. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience. Endocrine 49, 139–147 (2015). https://doi.org/10.1007/s12020-014-0450-4
NO This study was supported by the Instituto de Salud Carlos III and the European Regional Development Fund, FEDER (Grant: PI081449) and Consellería de Industria, Xunta de Galicia (Grant: 10PXIB208013PR). S. Sánchez-Iglesias is a Research Fellow granted by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP).
DS Minerva
RD 28 abr 2026