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.

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.

Figures