Skip to main content Skip to main navigation menu Skip to site footer
  • Register
  • Login
  • Menu
  • Home
  • Current
  • Archives
  • Announcements
  • About
    • About the Journal
    • Submissions
    • Editorial Team
    • Privacy Statement
    • Contact
  • Register
  • Login

Quality in Sport

Disorders of Adipose Tissue and Lipodystrophies: Causes, Consequences, and Treatment Perspectives
  • Home
  • /
  • Disorders of Adipose Tissue and Lipodystrophies: Causes, Consequences, and Treatment Perspectives
  1. Home /
  2. Archives /
  3. Vol. 38 (2025) /
  4. Medical Sciences

Disorders of Adipose Tissue and Lipodystrophies: Causes, Consequences, and Treatment Perspectives

Authors

  • Kamila Rosińska Voivodeship Integrated Hospital of Jędrzej Śniadecki in Bialystok https://orcid.org/0009-0001-8158-2051
  • Ewelina Justyna Janicka COPERNICUS Medical Entity Sp. z o. o. Nowe Ogrody 1-6, 80-803 Gdańsk, Poland https://orcid.org/0009-0006-5139-1728
  • Julia Natalia Skibicka Grochowski Hospital, Grenadierów 51/59, 04-073 Warsaw, Poland https://orcid.org/0009-0000-1832-2938
  • Monika Niedźwiedzka Medical University of Bialystok, Jana Kilińskiego 1, 15-089 Białystok, Poland https://orcid.org/0009-0004-9952-3414
  • Mateusz Rosiński Medical University of Bialystok, Jana Kilińskiego 1, 15-089 Białystok, Poland https://orcid.org/0009-0009-6193-8282

DOI:

https://doi.org/10.12775/QS.2025.38.58194

Keywords

Lipodystrophy, adipose tissue loss, metabolism, insulin resistance, diabetes, hypertriglyceridemia, HIV, metreleptin, adipogenesis, congenital lipodystrophy, acquired lipodystrophy

Abstract

Lipodystrophies are rare metabolic disorders characterized by the loss of adipose tissue, which can manifest as generalized, partial, or localized. This condition is associated with metabolic complications such as insulin resistance, diabetes, hypertriglyceridemia, and liver steatosis. The paper discusses the classification of lipodystrophies by etiology and fat loss extent, including generalized and partial forms, both congenital and acquired. Special focus is placed on HIV-associated lipodystrophy due to the prevalence of antiretroviral therapy. The pathophysiology involves disrupted adipogenesis, leading to abnormal fat distribution and metabolic dysfunction. Diagnosis includes medical history, physical exams, and body composition analysis. Treatment focuses on managing metabolic issues and may involve therapies like metreleptin.

OBJECTIVE:

This study aims to analyze the pathophysiology, diagnosis, and treatment of lipodystrophies, particularly focusing on congenital, acquired, and HIV-associated forms. It explores the underlying metabolic mechanisms, diagnostic challenges, and current and future therapeutic approaches, including metreleptin and other strategies.

MATERIALS AND METHODS:

The study relies on scientific research, review articles, and reports on lipodystrophy syndromes, primarily sourced from PubMed, Google Scholar, and Cochrane Library. It examines data related to diagnostics, etiology, and treatment options.

CONCLUSIONS:

Lipodystrophies are rare and heterogeneous, making diagnosis challenging. Early detection is essential to prevent complications like diabetes and cardiovascular disease. Modern technologies such as dual-energy X-ray absorptiometry (DEXA) help assess body composition more accurately. Although therapies like metreleptin show promise, they remain expensive and difficult to implement. Further research is needed to improve understanding and management of lipodystrophies, and patient education is crucial for better outcomes.

References

[1] I. Hussain and A. Garg, “Lipodystrophy Syndromes,” Endocrinol Metab Clin North Am, vol. 45, no. 4, p. 783, Dec. 2016, doi: 10.1016/J.ECL.2016.06.012.

[2] L. Weng et al., “Surplus fatty acid synthesis increases oxidative stress in adipocytes and induces lipodystrophy,” Nat Commun, vol. 15, no. 1, p. 133, Dec. 2024, doi: 10.1038/S41467-023-44393-7.

[3] N. Patni and A. Garg, “Lipodystrophy for the Diabetologist—What to Look For,” Curr Diab Rep, vol. 22, no. 9, p. 461, Sep. 2022, doi: 10.1007/S11892-022-01485-W.

[4] N. Gupta et al., “Clinical Features and Management of Non-HIV–Related Lipodystrophy in Children: A Systematic Review,” J Clin Endocrinol Metab, vol. 102, no. 2, p. 363, Feb. 2016, doi: 10.1210/JC.2016-2271.

[5] S. Yang and C. Knox, “Prevalence of clinical characteristics of lipodystrophy in the US adult population in a healthcare claims database,” BMC Endocr Disord, vol. 24, no. 1, p. 102, Dec. 2024, doi: 10.1186/S12902-024-01629-X.

[6] P. Krüger, R. Hartinger, and K. Djabali, “Navigating Lipodystrophy: Insights from Laminopathies and Beyond,” Int J Mol Sci, vol. 25, no. 15, p. 8020, Aug. 2024, doi: 10.3390/IJMS25158020.

[7] R. J. Brown et al., “The diagnosis and management of lipodystrophy syndromes: A multi-society practice guideline,” Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 12, pp. 4500–4511, Dec. 2016, doi: 10.1210/JC.2016-2466/SUPPL_FILE/JC-16-2466.PDF.

[8] G. Ceccarini, S. Magno, D. Gilio, C. Pelosini, and F. Santini, “Autoimmunity in lipodystrophy syndromes,” Presse Med, vol. 50, no. 3, p. 104073, Nov. 2021, doi: 10.1016/J.LPM.2021.104073.

[9] D. Araújo-Vilar and F. Santini, “Diagnosis and treatment of lipodystrophy: a step-by-step approach,” J Endocrinol Invest, vol. 42, no. 1, p. 61, Jan. 2018, doi: 10.1007/S40618-018-0887-Z.

[10] M. Le Nguyen et al., “Leptin Attenuates Cardiac Hypertrophy in Patients With Generalized Lipodystrophy,” J Clin Endocrinol Metab, vol. 106, no. 11, p. e4327, Nov. 2021, doi: 10.1210/CLINEM/DGAB499.

[11] L. T. Fourman and S. K. Grinspoon, “Approach to the Patient With Lipodystrophy,” J Clin Endocrinol Metab, vol. 107, no. 6, p. 1714, Jun. 2022, doi: 10.1210/CLINEM/DGAC079.

[12] J. Von Schnurbein et al., “European lipodystrophy registry: background and structure,” Orphanet J Rare Dis, vol. 15, no. 1, p. 17, Jan. 2020, doi: 10.1186/S13023-020-1295-Y.

[13] J. L. Finkelstein, P. Gala, R. Rochford, M. J. Glesby, and S. Mehta, “HIV/AIDS and lipodystrophy: Implications for clinical management in resource-limited settings,” J Int AIDS Soc, vol. 18, no. 1, p. 19033, Jan. 2015, doi: 10.7448/IAS.18.1.19033.

[14] T. A. Lamesa, “Biological Depiction of Lipodystrophy and Its Associated Challenges Among HIV AIDS Patients: Literature Review,” HIV AIDS (Auckl), vol. 16, p. 123, 2024, doi: 10.2147/HIV.S445605.

[15] V. Behera, M. Randive, S. Sundaray, and M. S. N. Murty, “Antiretroviral therapy-induced lipodystrophy,” BMJ Case Rep, vol. 2015, p. bcr2014207090, Feb. 2015, doi: 10.1136/BCR-2014-207090.

[16] S. S. Bhimji and R. A. Whitten, “HIV-Associated Lipodystrophy,” StatPearls, Nov. 2022, Accessed: Jan. 08, 2025. [Online]. Available: https://www.ncbi.nlm.nih.gov/books/NBK493183/

[17] M. M. D. Romano, P. A. I. Chacon, F. N. Z. Ramalho, M. C. Foss, and A. Schmidt, “Cardiac Alterations in Patients with Familial Lipodystrophy,” Arq Bras Cardiol, vol. 114, no. 2, p. 305, Feb. 2020, doi: 10.36660/ABC.20190016.

[18] N. B. da Cunha Olegario et al., “Identifying congenital generalized lipodystrophy using deep learning-DEEPLIPO,” Sci Rep, vol. 13, no. 1, p. 2176, Dec. 2023, doi: 10.1038/S41598-023-27987-5.

[19] A. Gambineri and L. Zanotti, “Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects,” Nucleus, vol. 9, no. 1, p. 392, Jan. 2018, doi: 10.1080/19491034.2018.1509659.

[20] A. J. Eldin et al., “Cardiac phenotype in familial partial lipodystrophy,” Clin Endocrinol (Oxf), vol. 94, no. 6, p. 1043, Jun. 2021, doi: 10.1111/CEN.14426.

[21] A. Fernández-Pombo, S. Sánchez-Iglesias, S. Cobelo-Gómez, Á. Hermida-Ameijeiras, and D. Araújo-Vilar, “Familial partial lipodystrophy syndromes,” Presse Med, vol. 50, no. 3, p. 104071, Nov. 2021, doi: 10.1016/J.LPM.2021.104071.

[22] F. Mainieri and F. Chiarelli, “Lipodystrophies in Children,” Horm Res Paediatr, vol. 95, no. 4, pp. 305–320, Oct. 2022, doi: 10.1159/000522620.

[23] C. Mandel-Brehm et al., “Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy,” Diabetes, vol. 72, no. 1, p. 59, Jan. 2022, doi: 10.2337/DB21-1172.

[24] S. Özen, B. Akıncı, and E. A. Oral, “Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People,” J Clin Res Pediatr Endocrinol, vol. 12, no. 1, pp. 17–28, 2020, doi: 10.4274/JCRPE.GALENOS.2019.2019.0124.

[25] N. Patni, C. Chard, D. Araújo-Vilar, H. Phillips, D. A. Magee, and B. Akinci, “Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey,” Orphanet J Rare Dis, vol. 19, no. 1, p. 263, Dec. 2024, doi: 10.1186/S13023-024-03245-3.

[26] C. A. Meehan, E. Cochran, A. Kassai, R. J. Brown, and P. Gorden, “Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy,” Expert Rev Clin Pharmacol, vol. 9, no. 1, p. 59, Jan. 2015, doi: 10.1586/17512433.2016.1096772.

[27] C. Vigouroux, H. Mosbah, and C. Vatier, “Leptin replacement therapy in the management of lipodystrophy syndromes,” Ann Endocrinol (Paris), vol. 85, no. 3, pp. 201–204, Jun. 2024, doi: 10.1016/J.ANDO.2024.05.022.

[28] A. Roumane, G. D. Mcilroy, N. Sommer, W. Han, L. K. Heisler, and J. J. Rochford, “GLP-1 receptor agonist improves metabolic disease in a pre-clinical model of lipodystrophy,” Front Endocrinol (Lausanne), vol. 15, p. 1379228, 2024, doi: 10.3389/FENDO.2024.1379228/FULL.

[29] R. J. Brown et al., “Lymphoma in acquired generalized lipodystrophy,” Leuk Lymphoma, vol. 57, no. 1, p. 45, Jan. 2015, doi: 10.3109/10428194.2015.1040015.

[30] S. Bindlish, L. S. Presswala, and F. Schwartz, “Lipodystrophy: Syndrome of severe insulin resistance,” Postgrad Med, vol. 127, no. 5, pp. 511–516, Jan. 2015, doi: 10.1080/00325481.2015.1015927.

Downloads

  • PDF

Published

2025-02-11

How to Cite

1.
ROSIŃSKA, Kamila, JANICKA, Ewelina Justyna, SKIBICKA, Julia Natalia, NIEDŹWIEDZKA, Monika and ROSIŃSKI, Mateusz. Disorders of Adipose Tissue and Lipodystrophies: Causes, Consequences, and Treatment Perspectives. Quality in Sport. Online. 11 February 2025. Vol. 38, p. 58194. [Accessed 19 June 2025]. DOI 10.12775/QS.2025.38.58194.
  • ISO 690
  • ACM
  • ACS
  • APA
  • ABNT
  • Chicago
  • Harvard
  • IEEE
  • MLA
  • Turabian
  • Vancouver
Download Citation
  • Endnote/Zotero/Mendeley (RIS)
  • BibTeX

Issue

Vol. 38 (2025)

Section

Medical Sciences

License

Copyright (c) 2025 Kamila Rosińska, Ewelina Justyna Janicka, Julia Natalia Skibicka, Monika Niedźwiedzka, Mateusz Rosiński

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Stats

Number of views and downloads: 173
Number of citations: 0

Search

Search

Browse

  • Browse Author Index
  • Issue archive

User

User

Current Issue

  • Atom logo
  • RSS2 logo
  • RSS1 logo

Information

  • For Readers
  • For Authors
  • For Librarians

Newsletter

Subscribe Unsubscribe

Tags

Search using one of provided tags:

Lipodystrophy, adipose tissue loss, metabolism, insulin resistance, diabetes, hypertriglyceridemia, HIV, metreleptin, adipogenesis, congenital lipodystrophy, acquired lipodystrophy
Up

Akademicka Platforma Czasopism

Najlepsze czasopisma naukowe i akademickie w jednym miejscu

apcz.umk.pl

Partners

  • Akademia Ignatianum w Krakowie
  • Akademickie Towarzystwo Andragogiczne
  • Fundacja Copernicus na rzecz Rozwoju Badań Naukowych
  • Instytut Historii im. Tadeusza Manteuffla Polskiej Akademii Nauk
  • Instytut Kultur Śródziemnomorskich i Orientalnych PAN
  • Instytut Tomistyczny
  • Karmelitański Instytut Duchowości w Krakowie
  • Ministerstwo Kultury i Dziedzictwa Narodowego
  • Państwowa Akademia Nauk Stosowanych w Krośnie
  • Państwowa Akademia Nauk Stosowanych we Włocławku
  • Państwowa Wyższa Szkoła Zawodowa im. Stanisława Pigonia w Krośnie
  • Polska Fundacja Przemysłu Kosmicznego
  • Polskie Towarzystwo Ekonomiczne
  • Polskie Towarzystwo Ludoznawcze
  • Towarzystwo Miłośników Torunia
  • Towarzystwo Naukowe w Toruniu
  • Uniwersytet im. Adama Mickiewicza w Poznaniu
  • Uniwersytet Komisji Edukacji Narodowej w Krakowie
  • Uniwersytet Mikołaja Kopernika
  • Uniwersytet w Białymstoku
  • Uniwersytet Warszawski
  • Wojewódzka Biblioteka Publiczna - Książnica Kopernikańska
  • Wyższe Seminarium Duchowne w Pelplinie / Wydawnictwo Diecezjalne „Bernardinum" w Pelplinie

© 2021- Nicolaus Copernicus University Accessibility statement Shop