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 324 free, full-text research articles on human participants. First 3 results:

Low expression of IL-18 and IL-18 receptor in human skeletal muscle is associated with systemic and intramuscular lipid metabolism-Role of HIV lipodystrophy.
 

Author(s): Birgitte Lindegaard, Thine Hvid, Helene Wolsk Mygind, Ole Hartvig-Mortensen, Thomas Grøndal, Julie Abildgaard, Jan Gerstoft, Bente Klarlund Pedersen, Marcin Baranowski

Journal:

 

Interleukin (IL)-18 is involved in regulation of lipid and glucose metabolism. Mice lacking whole-body IL-18 signalling are prone to develop weight gain and insulin resistance, a phenotype which is associated with impaired fat oxidation and ectopic skeletal muscle lipid deposition. ...

Last Updated: 31 Dec 1969

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Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1.
 

Author(s): Audrey Melvin, Claire Adams, Catherine Flanagan, Lisa Gaff, Barbara Gratton, Fiona Gribble, Geoffrey Roberts, Robert K Semple, Stephen O'Rahilly, Francesco Rubino, Anna Stears, David B Savage

Journal: J. Clin. Endocrinol. Metab.. 2017 Oct;102(10):3616-3620.

 

Familial partial lipodystrophy type 1 (FPLD1) is an extreme form of central adiposity, with peripheral lipodystrophy associated with severe manifestations of the metabolic syndrome, often poorly responsive to standard therapeutic approaches. Body mass index in FPLD1 varies but, in ...

Last Updated: 31 Dec 1969

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A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic locus.
 

Author(s): Anja Oldenburg, Nolwenn Briand, Anita L Sørensen, Inswasti Cahyani, Akshay Shah, Jan Øivind Moskaug, Philippe Collas

Journal: J. Cell Biol.. 2017 09;216(9):2731-2743.

 

Mutations in the () gene-encoding nuclear LMNA cause laminopathies, which include partial lipodystrophies associated with metabolic syndromes. The lipodystrophy-associated LMNA p.R482W mutation is known to impair adipogenic differentiation, but the mechanisms involved are unclear. ...

Last Updated: 31 Dec 1969

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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 36 free, full-text review articles on human participants. First 3 results:

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.
 

Author(s): Rebecca J Brown, David Araujo-Vilar, Pik To Cheung, David Dunger, Abhimanyu Garg, Michelle Jack, Lucy Mungai, Elif A Oral, Nivedita Patni, Kristina I Rother, Julia von Schnurbein, Ekaterina Sorkina, Takara Stanley, Corinne Vigouroux, Martin Wabitsch, Rachel Williams, Tohru Yorifuji

Journal: J. Clin. Endocrinol. Metab.. 2016 Dec;101(12):4500-4511.

 

Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis. Due to their rarity, most clinicians are not familiar with their diagnosis and management. ...

Last Updated: 31 Dec 1969

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Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
 

Author(s): Roberta Opri, Gian Maria Fabrizi, Gaetano Cantalupo, Moreno Ferrarini, Alessandro Simonati, Bernardo Dalla Bernardina, Francesca Darra

Journal: Seizure. 2016 Nov;42():1-6.

 

A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized ...

Last Updated: 31 Dec 1969

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Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.
 

Author(s): Eberhard Passarge, Peter N Robinson, Luitgard M Graul-Neumann

Journal: Eur. J. Hum. Genet.. 2016 08;24(9):1244-7.

 

We review six previous reports between 2000 and 2014 of seven unrelated patients with mutations in the FBN1 gene affecting function. All mutations occurred in exon 64 of the FBN1 gene. A distinctive phenotype consisting of partial manifestations of Marfan syndrome, a progeroid facial ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 27 Mar 2018

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Lipodystrophy Connect Patient Registry
 

Status: Recruiting

Condition Summary: Lipodystrophy

 

Last Updated: 7 Nov 2016

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Short-term Effects of Leptin in People With Lipodystrophy
 

Status: Recruiting

Condition Summary: Lipodystrophy

 

Last Updated: 27 Mar 2018

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