RT Journal Article
T1 Diagnosis and treatment of lipodystrophy: a step‑by‑step approach
A1 Araujo-Vilar, David
A1 Santini, F.
K1 Diabetes
K1 Dyslipidemia
K1 Insulin resistance
K1 Leptin replacement
K1 Metreleptin
AB Aim : Lipodystrophy syndromes are rare heterogeneous disorders characterized by defciency of adipose tissue, usually a decrease in leptin levels and, frequently, severe metabolic abnormalities including diabetes mellitus and dyslipidemia.Purpose : To describe the clinical presentation of known types of lipodystrophy, and suggest specifc steps to recognize, diagnose and treat lipodystrophy in the clinical setting.Methods : Based on literature and in our own experience, we propose a stepwise approach for diagnosis of the diferent subtypes of rare lipodystrophy syndromes, describing its more frequent co-morbidities and establishing the therapeuticalapproach.Results : Lipodystrophy is classifed as genetic or acquired and by the distribution of fat loss, which can be generalized or partial. Genes associated with many congenital forms of lipodystrophy have been identifed that may assist in diagnosis. Becauseof its rarity and heterogeneity, lipodystrophy may frequently be unrecognized or misdiagnosed, which is concerning because it is progressive and its complications are potentially life threatening. A basic diagnostic algorithm is proposed. Efectivemanagement of lipodystrophy includes lifestyle changes and aggressive, evidence-based treatment of comorbidities. Leptin replacement therapy (metreleptin) has been found to improve metabolic parameters in many patients with lipodystrophy.Metreleptin is approved in the United States as replacement therapy to treat the complications of leptin defciency in patients with congenital or acquired generalized lipodystrophy and has been submitted for approval in Europe.Conclusions : Here, we describe the clinical presentation of known types of lipodystrophy, present an algorithm for diferential diagnosis of lipodystrophy, and suggest specifc steps to recognize and diagnose lipodystrophy in the clinical setting.
PB Springer
SN 0391-4097
YR 2019
FD 2019
LK http://hdl.handle.net/10347/21587
UL http://hdl.handle.net/10347/21587
LA eng
NO Araújo-Vilar, D., & Santini, F. (2019). Diagnosis and treatment of lipodystrophy: A step-by-step approach. Journal of Endocrinological Investigation, 42(1), 61-73. doi:10.1007/s40618-018-0887-z
DS Minerva
RD 28 abr 2026