LymphedemaV1, Ncbi, Merge, bibRecord, 003A31

Lipedema: an inherited condition.

Identifieur interne : 003A31 ( Ncbi/Merge ); précédent : 003A30; suivant : 003A32

Lipedema: an inherited condition.

Auteurs : Anne H. Child [Royaume-Uni] ; Kristiana D. Gordon ; Pip Sharpe ; Glen Brice ; Pia Ostergaard ; Steve Jeffery ; Peter S. Mortimer

Source :

American journal of medical genetics. Part A [ 1552-4833 ] ; 2010.

RBID : pubmed:20358611

Descripteurs français

KwdFr :
- Adulte, Adulte d'âge moyen, Femelle, Graisse sous-cutanée (anatomopathologie), Humains, Jambe (anatomopathologie), Lymphoedème (anatomopathologie), Modes de transmission héréditaire (génétique), Mâle, Obésité (anatomopathologie), Oedème (anatomopathologie), Oedème (génétique), Pedigree, Phénotype, Sujet âgé.
MESH :
- anatomopathologie : Graisse sous-cutanée, Jambe, Lymphoedème, Obésité, Oedème.
- génétique : Modes de transmission héréditaire, Oedème.
- Adulte, Adulte d'âge moyen, Femelle, Humains, Mâle, Pedigree, Phénotype, Sujet âgé.

English descriptors

KwdEn :
- Adult, Aged, Edema (genetics), Edema (pathology), Female, Humans, Inheritance Patterns (genetics), Leg (pathology), Lymphedema (pathology), Male, Middle Aged, Obesity (pathology), Pedigree, Phenotype, Subcutaneous Fat (pathology).
MESH :
- genetics : Edema, Inheritance Patterns.
- pathology : Edema, Leg, Lymphedema, Obesity, Subcutaneous Fat.
- Adult, Aged, Female, Humans, Male, Middle Aged, Pedigree, Phenotype.

Abstract

Lipedema is a condition characterized by swelling and enlargement of the lower limbs due to abnormal deposition of subcutaneous fat. Lipedema is an under-recognized condition, often misdiagnosed as lymphedema or dismissed as simple obesity. We present a series of pedigrees and propose that lipedema is a genetic condition with either X-linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation. Lipedema appears to be a condition almost exclusively affecting females, presumably estrogen-requiring as it usually manifests at puberty. Lipedema is an entity distinct from obesity, but may be wrongly diagnosed as primary obesity, due to clinical overlap. The phenotype suggests a condition distinct from obesity and associated with pain, tenderness, and easy bruising in affected areas.

DOI: 10.1002/ajmg.a.33313
PubMed: 20358611

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pubmed:20358611

Le document en format XML

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<author><name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H" last="Child">Anne H. Child</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Cardiac and Vascular Sciences, St. George's, University of London, London, UK. achild@sgul.ac.uk</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Cardiac and Vascular Sciences, St. George's, University of London, London</wicri:regionArea>
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<author><name sortKey="Gordon, Kristiana D" sort="Gordon, Kristiana D" uniqKey="Gordon K" first="Kristiana D" last="Gordon">Kristiana D. Gordon</name>
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<author><name sortKey="Sharpe, Pip" sort="Sharpe, Pip" uniqKey="Sharpe P" first="Pip" last="Sharpe">Pip Sharpe</name>
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<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
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<author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
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<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
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<author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name>
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<affiliation wicri:level="4"><nlm:affiliation>Department of Cardiac and Vascular Sciences, St. George's, University of London, London, UK. achild@sgul.ac.uk</nlm:affiliation>
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<author><name sortKey="Gordon, Kristiana D" sort="Gordon, Kristiana D" uniqKey="Gordon K" first="Kristiana D" last="Gordon">Kristiana D. Gordon</name>
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<term>Aged</term>
<term>Edema (genetics)</term>
<term>Edema (pathology)</term>
<term>Female</term>
<term>Humans</term>
<term>Inheritance Patterns (genetics)</term>
<term>Leg (pathology)</term>
<term>Lymphedema (pathology)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Obesity (pathology)</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Subcutaneous Fat (pathology)</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Femelle</term>
<term>Graisse sous-cutanée (anatomopathologie)</term>
<term>Humains</term>
<term>Jambe (anatomopathologie)</term>
<term>Lymphoedème (anatomopathologie)</term>
<term>Modes de transmission héréditaire (génétique)</term>
<term>Mâle</term>
<term>Obésité (anatomopathologie)</term>
<term>Oedème (anatomopathologie)</term>
<term>Oedème (génétique)</term>
<term>Pedigree</term>
<term>Phénotype</term>
<term>Sujet âgé</term>
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<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Graisse sous-cutanée</term>
<term>Jambe</term>
<term>Lymphoedème</term>
<term>Obésité</term>
<term>Oedème</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Edema</term>
<term>Inheritance Patterns</term>
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<term>Oedème</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Edema</term>
<term>Leg</term>
<term>Lymphedema</term>
<term>Obesity</term>
<term>Subcutaneous Fat</term>
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<term>Aged</term>
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<term>Humans</term>
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<term>Adulte d'âge moyen</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mâle</term>
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<term>Phénotype</term>
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<front><div type="abstract" xml:lang="en">Lipedema is a condition characterized by swelling and enlargement of the lower limbs due to abnormal deposition of subcutaneous fat. Lipedema is an under-recognized condition, often misdiagnosed as lymphedema or dismissed as simple obesity. We present a series of pedigrees and propose that lipedema is a genetic condition with either X-linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation. Lipedema appears to be a condition almost exclusively affecting females, presumably estrogen-requiring as it usually manifests at puberty. Lipedema is an entity distinct from obesity, but may be wrongly diagnosed as primary obesity, due to clinical overlap. The phenotype suggests a condition distinct from obesity and associated with pain, tenderness, and easy bruising in affected areas.</div>
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<Abstract><AbstractText>Lipedema is a condition characterized by swelling and enlargement of the lower limbs due to abnormal deposition of subcutaneous fat. Lipedema is an under-recognized condition, often misdiagnosed as lymphedema or dismissed as simple obesity. We present a series of pedigrees and propose that lipedema is a genetic condition with either X-linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation. Lipedema appears to be a condition almost exclusively affecting females, presumably estrogen-requiring as it usually manifests at puberty. Lipedema is an entity distinct from obesity, but may be wrongly diagnosed as primary obesity, due to clinical overlap. The phenotype suggests a condition distinct from obesity and associated with pain, tenderness, and easy bruising in affected areas.</AbstractText>
<CopyrightInformation>(c) 2010 Wiley-Liss, Inc.</CopyrightInformation>
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<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Child</LastName>
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Lipedema: an inherited condition.

Lipedema: an inherited condition.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki