Current Diabetes Reports

, 18:143 | Cite as

Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities

  • Baris Akinci
  • Rasimcan Meral
  • Elif Arioglu Oral
Pathogenesis of Type 2 Diabetes and Insulin Resistance (M-E Patti, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Pathogenesis of Type 2 Diabetes and Insulin Resistance


Purpose of review

This article focuses on recent progress in understanding the genetics of lipodystrophy syndromes, the pathophysiology of severe metabolic abnormalities caused by these syndromes, and causes of severe morbidity and a possible signal of increased mortality associated with lipodystrophy. An updated classification scheme is also presented.

Recent findings

Lipodystrophy encompasses a group of heterogeneous rare diseases characterized by generalized or partial lack of adipose tissue and associated metabolic abnormalities including altered lipid metabolism and insulin resistance. Recent advances in the field have led to the discovery of new genes associated with lipodystrophy and have also improved our understanding of adipose biology, including differentiation, lipid droplet assembly, and metabolism. Several registries have documented the natural history of the disease and the serious comorbidities that patients with lipodystrophy face. There is also evolving evidence for increased mortality rates associated with lipodystrophy.


Lipodystrophy syndromes represent a challenging cluster of diseases that lead to severe insulin resistance, a myriad of metabolic abnormalities, and serious morbidity. The understanding of these syndromes is evolving in parallel with the identification of novel disease-causing mechanisms.


Diabetes Insulin resistance Leptin Lipodystrophy 



We thank our patients who have inspired us for the last two decades. In addition, the clinical research team at UM comprised of Nevin Ajluni, MD, Adam Neidert, MS, Rita Hench, BS, Diana Rus, BS, and Jelal Eldin Abdel Wahab, MD provided invaluable support for the studies.

Compliance with Ethical Standards

Conflict of Interest

Baris Akinci has attended Scientific Advisory Board Meetings organized by Aegerion Pharmaceuticals and has received honoraria as a speaker from AstraZeneca, Lilly, MSD, Novartis, Novo Nordisk, Boehringer-Ingelheim, Servier, and Sanofi-Aventis.

Rasimcan Meral declares that he has no conflict of interest.

Elif Arioglu Oral reports the following conflicts: Grant support: Aegerion Pharmaceuticals, Ionis Pharmaceuticals, Akcea Therapeutics, Gemphire Therapeutics (current), GI Dynamics, and AstraZeneca (the past 2 years). Consultant or advisor: AstraZeneca and BMS (Past), Thera Therapeutics, Regeneron, and Aegerion (current). Drug support: Aegerion Pharmaceuticals, Akcea Therapeutics, and Rhythm Pharmaceuticals. Other support: Boehringer Ingelheim (the past 2 years) and Aegerion Pharmaceuticals (current). She also has two patents: one patent is currently with Aegerion for the use of metreleptin for the treatment of lipodystrophy syndromes (issued and licensed, but she has not received any royalties, they go to the NIH), and the second patent is for the use of metreleptin in the treatment of NASH.

Human and Animal Rights and Informed Consent

This article does not contain any active studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Baris Akinci
    • 1
    • 2
  • Rasimcan Meral
    • 1
  • Elif Arioglu Oral
    • 1
  1. 1.Brehm Center for Diabetes Research, Division of Metabolism, Endocrinology & Diabetes, Department of Internal MedicineUniversity of MichiganAnn ArborUSA
  2. 2.Division of Endocrinology, Department of Internal MedicineDokuz Eylul UniversityIzmirTurkey

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