Lipodystrophy

Common Name(s)

Lipodystrophy

Lipodystrophy refers to a collection of conditions caused by a problem with fat (lipid) metabolism. These conditions can be subclassified in a variety of ways. For example there are generalized, localized, congenital, and acquired forms of lipodystrophy. These conditions are characterized by the destruction (atrophy) of fatty (adipose) tissue. In many of the lipodystrophies there is a redistribution of body fat resulting in the fat collecting primarily in the center of the body.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lipodystrophy" for support, advocacy or research.

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Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

Last Updated: 30 Nov 2014

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lipodystrophy" for support, advocacy or research.

Logo
Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

http://www.lipodystrophyunited.org/

Last Updated: 30 Nov 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lipodystrophy" returned 265 free, full-text research articles on human participants. First 3 results:

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
 

Author(s): Jens Schuster, Tahir Naeem Khan, Muhammad Tariq, Pakeeza Arzoo Shaiq, Katrin Mäbert, Shahid Mahmood Baig, Joakim Klar

Journal:

 

Exome sequencing has become more and more affordable and the technique has emerged as an important diagnostic tool for monogenic disorders at early stages of investigations, in particular when clinical information is limited or unspecific as well as in cases of genetic heterogeneity.

Last Updated: 1 Jul 2014

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Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
 

Author(s): Felicity Payne, Koini Lim, Amandine Girousse, Rebecca J Brown, Nora Kory, Ann Robbins, Yali Xue, Alison Sleigh, Elaine Cochran, Claire Adams, Arundhati Dev Borman, David Russel-Jones, Phillip Gorden, Robert K Semple, Vladimir Saudek, Stephen O'Rahilly, Tobias C Walther, Inês Barroso, David B Savage

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Jun;111(24):8901-6.

 

Phosphatidylcholine (PC) is the major glycerophospholipid in eukaryotic cells and is an essential component in all cellular membranes. The biochemistry of de novo PC synthesis by the Kennedy pathway is well established, but less is known about the physiological functions of PC. We ...

Last Updated: 19 Jun 2014

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Prevalence of lipodystrophy and risk factors for dyslipidemia in HIV-infected children in Brazil.
 

Author(s): Luanda Papi, Ana Carolina G B Menezes, Hélio Rocha, Thalita F Abreu, Ricardo Hugo de Oliveira, Ana Cristina C Frota, Lucia de A Evangelista, Cristina B Hofer

Journal: Braz J Infect Dis. ;18(4):394-9.

 

The aim of present study was to describe the frequency of lipodystrophy syndrome associated with HIV (LSHIV) and factors associated with dyslipidemia in Brazilian HIV infected children. HIV infected children on antiretroviral treatment were evaluated (nutritional assessment, physical ...

Last Updated: 11 Jul 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lipodystrophy" returned 25 free, full-text review articles on human participants. First 3 results:

Role of mitochondria in HIV infection and associated metabolic disorders: focus on nonalcoholic fatty liver disease and lipodystrophy syndrome.
 

Author(s): P Pérez-Matute, L Pérez-Martínez, J R Blanco, J A Oteo

Journal: Oxid Med Cell Longev. 2013 ;2013():493413.

 

Highly active antiretroviral therapy (HAART) has considerably improved the prognosis of HIV-infected patients. However, prolonged use of HAART has been related to long-term adverse events that can compromise patient health such as HIV-associated lipodystrophy syndrome (HALS) and nonalcoholic ...

Last Updated: 23 Aug 2013

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Systematic review of antiretroviral-associated lipodystrophy: lipoatrophy, but not central fat gain, is an antiretroviral adverse drug reaction.
 

Author(s): Reneé de Waal, Karen Cohen, Gary Maartens

Journal:

 

Lipoatrophy and/or central fat gain are observed frequently in patients on antiretroviral therapy (ART). Both are assumed to be antiretroviral adverse drug reactions.

Last Updated: 31 May 2013

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Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.
 

Author(s): Nobuo Kanazawa

Journal: Allergol Int. 2012 Jun;61(2):197-206.

 

Nakajo-Nishimura syndrome (ORPHA2615; also registered as Nakajo syndrome in OMIM#256040) is a distinct inherited inflammatory and wasting disease, originally reported from Japan. This disease usually begins in early infancy with a pernio-like rash, especially in winter. The patients ...

Last Updated: 28 May 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Therapeutic Approaches to HAART-Induced Lipodystrophy
 

Status: Recruiting

Condition Summary: HIV Infections; Lipodystrophy

 

Last Updated: 19 Jun 2013

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Identification of a New Gene Involved in Hereditary Lipodystrophy
 

Status: Recruiting

Condition Summary: Lipodystrophy

 

Last Updated: 5 Feb 2014

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Short-term Effects of Leptin in People With Lipodystrophy
 

Status: Recruiting

Condition Summary: Lipodystrophy

 

Last Updated: 12 Aug 2014

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