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Partial lipodystrophy: Clinical presentation and treatment.

Héléna Mosbah1, Camille Vatier2, Corinne Vigouroux2

  • 1Inserm, ECEVE UMR 1123, université Paris-Cité, Paris, France; Service endocrinologie, diabétologie, nutrition, CHU de la Milétrie, Poitiers, France; Service d'endocrinologie, hôpital Saint-Antoine, Centre de référence des maladies rares de l'insulino-sécrétion et de l'insulino-sensibilité (PRISIS), Assistance publique-Hôpitaux de Paris (AP-HP), Paris, France.

Annales D'Endocrinologie
|June 13, 2024
PubMed
Summary
This summary is machine-generated.

Lipodystrophic syndromes are rare genetic or acquired conditions causing adipose tissue loss and severe metabolic issues like insulin resistance. Early diagnosis and lifestyle changes are key, with metreleptin as a potential treatment for specific forms.

Keywords:
Adipose tissueDiabetesDiabèteDyslipidemiaDyslipidémieInsulin resistanceInsulinorésistanceLipodystrophie partielleMetreleptinMétréleptinePartial lipodystrophyTissue adipeux

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Area of Science:

  • Endocrinology
  • Rare Diseases
  • Metabolic Disorders

Background:

  • Lipodystrophic syndromes are rare genetic or acquired diseases characterized by adipose tissue deficiency.
  • These conditions lead to significant metabolic alterations, including insulin resistance, hypertriglyceridemia, and hepatic steatosis.
  • Partial forms can be underdiagnosed and are exacerbated by visceral and upper-body subcutaneous adipose tissue accumulation.

Purpose of the Study:

  • To provide a comprehensive overview of lipodystrophic syndromes.
  • To highlight diagnostic criteria and management strategies.
  • To discuss therapeutic options, including the role of metreleptin.

Main Methods:

  • Review of clinical presentations and diagnostic approaches.
  • Analysis of metabolic investigations and genetic testing in diagnosis.
  • Evaluation of current management guidelines and treatment outcomes.

Main Results:

  • Diagnosis relies on clinical findings, comorbidities, metabolic tests, and genetic analysis.
  • Early lifestyle interventions (diet, exercise) are crucial for management.
  • Metreleptin shows efficacy in specific lipodystrophy forms when standard treatments fail.

Conclusions:

  • Lipodystrophy syndromes require early diagnosis and multidisciplinary management.
  • Lifestyle modifications are fundamental, complemented by targeted therapies.
  • Genetic counseling and advanced treatments like metreleptin are vital for improving patient outcomes.