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

## TL;DR

A patient with a rare genetic form of obesity successfully lost over 90 kg through long-term treatment with metreleptin.

## Contribution

This case demonstrates the long-term effectiveness of metreleptin in treating monogenic obesity caused by a LEP gene mutation.

## Key findings

- The patient's BMI decreased from 68.4 to 28.4 kg/m² over four years of metreleptin treatment.
- Significant improvements in metabolic comorbidities, acne, and hirsutism were observed alongside weight loss.

## Abstract

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.

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.

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.