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Background <p>The cases of obesity worldwide have increased significantly, with this condition being considered a global pandemic. This pathology poses a major health problem due to its high morbidity burden. Its cause in the majority of cases is multifactorial; however, there are various cases of monogenic obesity reported in the literature. Mutation in the leptin gene causes a marked decrease in leptin levels, leading to intense hyperphagia and associated morbid obesity. Substituting leptin with metreleptin is a treatment option for these patients.</p> Case presentation <p>We present the case of a patient with morbid obesity due to a single mutation in the LEP gene and approximately four years of treatment with metreleptin as a substitute therapy. Weight decreased from 154 to 64&#xa0;kg and BMI decreased from 68.4 to 28.4&#xa0;kg/m<sup>2</sup>.</p> Conclusions <p>The patient achieved a reduction of 40&#xa0;kg/m2 in BMI, corresponding to a body weight loss of 90&#xa0;kg, with a significant improvement in associated metabolic comorbidities, acne, and hirsutism.</p>

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Response to long-term pharmacological management of metreleptin in a patient with monogenic obesity due to mutation in the LEP gene

  • 期刊论文

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  • 发表日期：

    2025年7月7日

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  • Miguel Augusto O’Meara Novoa,
  • Maria Camila Reyes Cajicá,
  • Daniel Larrarte-Arenas,
  • Jennifer Alexandra Palencia Ávila

摘要

Background

The cases of obesity worldwide have increased significantly, with this condition being considered a global pandemic. This pathology poses a major health problem due to its high morbidity burden. Its cause in the majority of cases is multifactorial; however, there are various cases of monogenic obesity reported in the literature. Mutation in the leptin gene causes a marked decrease in leptin levels, leading to intense hyperphagia and associated morbid obesity. Substituting leptin with metreleptin is a treatment option for these patients.

Case presentation

We present the case of a patient with morbid obesity due to a single mutation in the LEP gene and approximately four years of treatment with metreleptin as a substitute therapy. Weight decreased from 154 to 64 kg and BMI decreased from 68.4 to 28.4 kg/m2.

Conclusions

The patient achieved a reduction of 40 kg/m2 in BMI, corresponding to a body weight loss of 90 kg, with a significant improvement in associated metabolic comorbidities, acne, and hirsutism.