Case Report: Twenty years of metreleptin therapy in congenital generalized lipodystrophy type 1: the longest reported follow-up to date - Takeaways - MDSpire

Case Report: Twenty years of metreleptin therapy in congenital generalized lipodystrophy type 1: the longest reported follow-up to date

  • By

  • Elise Van der Borght

  • Bart Van der Schueren

  • Roman Vangoitsenhoven

  • David Cassiman

  • Baris Akinci

  • Rebecca J. Brown

  • Elif A. Oral

  • Ann Mertens

  • Pieter-Jan Martens

  • May 13, 2026

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  • 1

    Congenital generalized lipodystrophy (CGL) is characterized by a near-complete absence of adipose tissue and severe metabolic dysfunction due to leptin deficiency.

  • 2

    Metreleptin is the only approved leptin replacement therapy for CGL, significantly improving metabolic outcomes and allowing discontinuation of insulin in treated patients.

  • 3

    The two sisters in the study experienced sustained metabolic enhancement, including normalized triglyceride levels and resumed menstrual cycles, enabling successful pregnancies.

  • 4

    Long-term treatment adherence diminished over time, with one sister developing anti-drug antibodies after 14 years, though without significant clinical impact.

  • 5

    The cases highlight the lasting benefits of metreleptin therapy while also emphasizing the challenges of maintaining adherence and managing antibody development.

Original Source(s)

Case Report: Twenty years of metreleptin therapy in congenital generalized lipodystrophy type 1: the longest reported follow-up to date

  • by Elise Van der Borght, Bart Van der Schueren, Roman Vangoitsenhoven, David Cassiman, Baris Akinci, Rebecca J. Brown, Elif A. Oral, Ann Mertens, Pieter-Jan Martens

  • May 13, 2026

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