Clinical presentation and management of childhood lipodystrophic syndromes

Česká verzia

Authors: Lebl Jan ¹; Chiarelli Francesco ²
Authors place of work: Pediatrická klinika, 2. lékařská fakulta, Univerzita Karlova a Fakultní nemocnice v Motole, Praha ¹; Department of Paediatrics, University of Chieti, Chieti, Italy ²
Published in the journal: Čes-slov Pediat 2024; 79 (4): 221-225.
Category: Comprehensive Report
doi: https://doi.org/10.55095/CSPediatrie2024/036

Summary

Lipodystrophy syndromes represent a heterogeneous group of rare diseases characterized by various degree of adipose tissue loss that results in severe metabolic complications, including hypertriglyceridemia, steatohepatitis and particularly insulin resistance. These complications may increase the mortality rate. Adipokine deficiency, and especially leptin deficiency, is due to fat tissue loss. Therapy for lipodystrophy primarily consists of a conventional approach that involves standard treatments of metabolic abnormalities. Recently, recombinant leptin.(metreleptin) administration has been introduced to compensate for leptin deficiency. This therapy markedly improves the overall patients’ status and metabolic complications and was approved for the treatment of both generalized and partial lipodystrophy.

Keywords:

leptin – insulin resistance – therapy – metreleptin – lipodystrophy – metabolic complications

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