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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Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy.
 

Author(s): Clarisse Mourão Melo Ponte, Virgínia Oliveira Fernandes, Maria Helane Costa Gurgel, Izabella Tamira Galdino Farias Vasconcelos, Lia Beatriz de Azevedo Souza Karbage, Christiane Bezerra Rocha Liberato, Carlos Antônio Negrato, Marília de Brito Gomes, Ana Paula Dias Rangel Montenegro, Renan Magalhães Montenegro Júnior

Journal:

 

Metabolic abnormalities in congenital generalized lipodystrophy (CGL) are associated with microvascular complications. However, the evaluation of different types of neuropathy in these patients, including the commitment of cardiovascular autonomic modulation, is scarce. The objective ...

Last Updated: 31 Dec 1969

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Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.
 

Author(s): Haruka Sasaki, Kumiko Yanagi, Satoshi Ugi, Kunihisa Kobayashi, Kumiko Ohkubo, Yuji Tajiri, Hiroshi Maegawa, Atsunori Kashiwagi, Tadashi Kaname

Journal: Endocr. J.. 2018 Feb;65(2):227-238.

 

Segmental progeroid syndromes with lipodystrophy are extremely rare, heterogeneous, and complex multi-system disorders that are characterized by phenotypic features of premature aging affecting various tissues and organs. In this study, we present a "sporadic/isolated" Japanese woman ...

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

Genetics of Lipodystrophy.
 

Author(s): Marissa Lightbourne, Rebecca J Brown

Journal: Endocrinol. Metab. Clin. North Am.. 2017 06;46(2):539-554.

 

Lipodystrophy disorders are characterized by selective loss of fat tissue with metabolic complications including insulin resistance, hypertriglyceridemia, and nonalcoholic liver disease. These complications can be life-threatening, affect quality of life, and result in increased health ...

Last Updated: 31 Dec 1969

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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 12;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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Registry for Patients With Lipodystrophy
 

Status: Recruiting

Condition Summary: Lipodystrophy Acquired; Lipodystrophy Congenital

 

Last Updated: 11 Jun 2018

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Lipodystrophy Connect Patient Registry
 

Status: Recruiting

Condition Summary: Lipodystrophy

 

Last Updated: 11 May 2018

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Short-term Effects of Leptin in People With Lipodystrophy
 

Status: Recruiting

Condition Summary: Lipodystrophy

 

Last Updated: 4 Jul 2018

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