Journal ArticleDOI
Lipedema: an inherited condition.
Anne H. Child,Kristiana Gordon,Pip Sharpe,Glen Brice,Pia Ostergaard,Steve Jeffery,Peter S. Mortimer +6 more
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TLDR
It is proposed that lipedema is a genetic condition with either X‐linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation, and appears to be a condition almost exclusively affecting females, presumably estrogen‐requiring as it usually manifests at puberty.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.read more
Citations
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Journal ArticleDOI
Effect of a ketogenic diet on pain and quality of life in patients with lipedema: The LIPODIET pilot study
TL;DR: In this paper , an eucaloric low carbohydrate, high fat (LCHF)-diet was evaluated on pain and quality of life (QoL) in patients with lipedema, and a significant increase in general QoL was found between baseline and week seven (1.0 95% CI (2.0, 0.001) p = 0.460).
Journal ArticleDOI
Aktuelle Aspekte einer lange vergessenen Erkrankung
TL;DR: Das Lipödem ist eine häufiger unter postpubertären Frauen auftretende, ätiologisch unklare chronisch verlaufende Erkrankung with negativen Auswirkungen auf Selbstwertgefühl, Mobilität and Lebensqualität.
Journal ArticleDOI
Lipedema prevalence and risk factors in Brazil
TL;DR: The estimated prevalence of lipedema in the population of Brazilian women is 12.3%, and anxiety, depression, hypertension, and anemia were also correlated with a high probability of the diagnosis.
Journal ArticleDOI
Is subcutaneous adipose tissue expansion in people living with lipedema healthier and reflected by circulating parameters?
TL;DR: This paper found that women living with lipedema have better glucose metabolism regulation represented by lower HbA1c (5.55 ± 0.62%) compared to controls (6.73 ± 0 .85%) and higher adiponectin levels (lipedema: 4.69 ± 1.00 mmol/l; p=0.038).
Book ChapterDOI
Differential Diagnosis – Lipedema
TL;DR: This study presents a diagnostic challenge as one of the common disorders that is easily confused with lymphedema, a frequently recognized and often neglected clinical entity that nearly always affects women.
References
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Journal ArticleDOI
A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
Andrew Shenker,Laue L,Shinji Kosugi,Shinji Kosugi,John J. Merendino,Takashi Minegishi,Gordon B. Cutler +6 more
TL;DR: COS-7 cells expressing the mutant LH receptor exhibited markedly increased cyclic AMP production in the absence of agonist, suggesting that autonomous Leydig cell activity in FMPP is caused by a constitutively activated LH receptor.
Journal ArticleDOI
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Leanne M. Dibbens,Leanne M. Dibbens,Patrick S. Tarpey,Kim Hynes,Kim Hynes,Marta A. Bayly,Ingrid E. Scheffer,Raffaella Smith,Jamee M. Bomar,Edwina Sutton,Lucianne Vandeleur,Cheryl Shoubridge,Sarah Edkins,Samantha J. Turner,Claire Stevens,Sarah O’Meara,Calli Tofts,Syd Barthorpe,Gemma Buck,Jennifer Cole,Kelly Halliday,David T. Jones,Rebecca Lee,Mark Madison,Tatiana Mironenko,Jennifer Varian,Sofie West,Sara Widaa,Paul Wray,John Teague,Ed Dicks,Adam Butler,Andrew Menzies,Andrew M. Jenkinson,Rebecca Shepherd,James F. Gusella,Zaid Afawi,Aziz Mazarib,Miriam Y. Neufeld,Sara Kivity,Dorit Lev,Tally Lerman-Sagie,Amos D. Korczyn,Christopher P. Derry,Grant R. Sutherland,Grant R. Sutherland,Kathryn Friend,Marie Shaw,Mark A. Corbett,Hyung Goo Kim,Daniel H. Geschwind,Paul Q. Thomas,Eric Haan,Eric Haan,Stephen G Ryan,Shane McKee,Samuel F. Berkovic,P. Andrew Futreal,Michael R. Stratton,John C. Mulley,John C. Mulley,Jozef Gecz,Jozef Gecz +62 more
TL;DR: In this paper, a systematic resequencing of 737 X chromosome genes was carried out to identify different protocadherin 19 (PCDH19) gene mutations in seven families with EFMR.
X-Linked Protocadherin 19 Mutations Cause Female-Limited Epilepsy and Cognitive Impairment. Dibbens LM,
Geneviève Albouy,Annabelle Darsaud,S. Gais,Sterpenich,Gilles Vandewalle,Gustave Moonen,Evelyne Balteau,A. Luxen,Christophe Phillips,Tarpey Ps,Hynes K,Bayly Ma,IE Scheffer,Smith R,Bomar J,Sutton E,Vandeleur L,Shoubridge C,Sarah Edkins,Turner Sj,Claire Stevens,Tofts C,Cole J,Kelly Halliday,Lee R,West S,Sara Widaa,Wray P,Jon W. Teague,Ed Dicks,Andy Menzies,Andy Jenkinson,Rebecca Shepherd,Aziz Mazarib,Kivity S,Kim Hg,Paul Q. Thomas,E. Haan,Ryan S,McKee S,Michael R. Stratton,Mulley Jc,J Gecz +42 more
TL;DR: Seven protocadherin 19 (PCDH19) gene mutations in seven families with EFMR resulted in the introduction of a premature termination codon and two missense mutations were predicted to affect adhesiveness of PCDH19 through impaired calcium binding.
Journal ArticleDOI
Lipedema of the legs: a syndrome characterized by fat legs and edema
TL;DR: There is little in the literature on abnormal localized depositions of body fat to clarify the syndrome of lipedema of the legs, but two of us (E. V. and E. A. H.) described it in 1940.