Leptin therapy in people with congenital leptin deficiency

Gilberto Paz-Filho, Julio Licinio

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Leptin is an adipokine synthesized mainly by the white adipose tissue, with a key role in the regulation of food intake and energy balance. In humans, leptin deficiency is observed in cases of lipodystrophy, functional hypothalamic amenorrhea, and congenital leptin deficiency (CLD) due to mutations in the leptin gene. To date, 34 cases of CLD have been described in the literature, with eight different mutations in the leptin gene been identified so far. For these patients, leptin replacement therapy with metreleptin (a recombinant leptin analog) is the only available therapy, which has been offered to most of these patients. The analysis of the effects of leptin replacement therapy in patients with CLD has shown that leptin has diverse effects, not only by leading to substantial weight loss due to decreases in food intake, but also to endocrine, metabolic, immune, and both structural and functional changes in the brain. A better understanding of the physiological roles of leptin may lead to the development of leptin-based therapies for more prevalent disorders such as fatty liver disease and neurocognitive diseases.

Original languageEnglish
Title of host publicationLeptin
Subtitle of host publicationRegulation and Clinical Applications
PublisherSpringer International Publishing
Number of pages12
ISBN (Electronic)9783319099156
ISBN (Print)9783319099149
Publication statusPublished or Issued - 1 Jan 2015


  • Congenital leptin deficiency
  • Leptin
  • Metreleptin
  • Myalept
  • Obesity

ASJC Scopus subject areas

  • Medicine(all)

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