Lipodystrophic syndromes: From diagnosis to treatment.

Camille Sollier, Camille Vatier, Emilie Capel, Olivier Lascols, Martine Auclair, Sonja Janmaat, Bruno Fève, Isabelle Jéru, Corinne Vigouroux

Journal: Annales d'endocrinologie 2020;81(1):51-60

PMID: 31982105

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Abstract

Lipodystrophic syndromes are acquired or genetic rare diseases, characterised by a generalised or partial lack of adipose tissue leading to metabolic alterations linked to strong insulin resistance. They encompass a variety of clinical entities due to primary defects in adipose differentiation, in the structure and/or regulation of the adipocyte lipid droplet, or due to immune-inflammatory aggressions, chromatin deregulations and/or mitochondrial dysfunctions affecting adipose tissue. Diagnosis is based on clinical examination, pathological context and comorbidities, and on results of metabolic investigations and genetic analyses, which together determine management and genetic counselling. Early lifestyle and dietary measures focusing on regular physical activity and avoiding excess energy intake are crucial. They are accompanied by multidisciplinary follow-up adapted to each clinical form. In case of hyperglycemia, antidiabetic medications, with metformin as a first-line therapy in adults, are used in addition to lifestyle and dietary modifications. When standard treatments have failed to control metabolic disorders, the orphan drug metreleptin, an analog of leptin, can be effective in certain forms of lipodystrophy syndrome. Metreleptin therapy indications, prescription and monitoring were recently defined in France, representing a major improvement in patient care.

Address: Sorbonne Université, Inserm UMR_S 938, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France.; Sorbonne Université, Inserm UMR_S 938, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Service d'Endocrinologie, Diabétologie et Endocrinologie de la reproduction, Centre national de Référence des Pathologies Rares de l'Insulino - Sécrétion et de l'Insulino-Sensibilité (PRISIS), Paris, France.; Sorbonne Université, Inserm UMR_S 938, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, Paris, France.; Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Service d'Endocrinologie, Diabétologie et Endocrinologie de la reproduction, Centre national de Référence des Pathologies Rares de l'Insulino - Sécrétion et de l'Insulino-Sensibilité (PRISIS), Paris, France.; Sorbonne Université, Inserm UMR_S 938, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Service d'Endocrinologie, Diabétologie et Endocrinologie de la reproduction, Centre national de Référence des Pathologies Rares de l'Insulino - Sécrétion et de l'Insulino-Sensibilité (PRISIS), Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, Paris, France. Electronic address: [email protected].

DOI: 10.1016/j.ando.2019.10.003

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MeSH Terms: Adult, Comorbidity, Diagnostic Techniques, Endocrine, Endocrinology, Genetic Predisposition to Disease, Humans, Lipodystrophy, Syndrome