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
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Update in the management of lipedema.
TL;DR: In this article, the authors performed a non-systematic review on the literature related to diagnosis and therapy of lipedema and found that the major aims of the management are multimodal for improvements in the quality of life; reduction in heaviness and pain, reshaping the affected limbs, weight control, improvements in mobility.
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Rest/stress intradermal lymphoscintigraphy in diagnosis of lipedema.
Girolamo Tartaglione,Giuseppe Visconti,Roberto Bartoletti,Francesco P Ieria,Marzia Salgarello +4 more
TL;DR: In clinically advanced lipedema stages, fat continues to build up and may block the lymphatic vessels causing a secondary lymphedema (Lipo-LymphedEMA), and lymph stagnation areas were observed.
Journal ArticleDOI
Current Mechanistic Understandings of Lymphedema and Lipedema: Tales of Fluid, Fat, and Fibrosis
TL;DR: The purpose of this review is to expose the distinct and shared clinical criteria and symptomatology, molecular regulators and pathophysiology, and genetic markers of lymphedema and lipedema to help inform future research in this field.
Journal ArticleDOI
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy
S Michelini,Karen L. Herbst,Vincenza Precone,Elena Manara,Giuseppe Marceddu,Astrit Dautaj,Paolo Enrico Maltese,Stefano Paolacci,Maria Rachele Ceccarini,Tommaso Beccari,Elisa Sorrentino,Barbara Aquilanti,Valeria Velluti,Giuseppina Matera,Lucilla Gagliardi,Giacinto Abele Donato Miggiano,Matteo Bertelli +16 more
TL;DR: An extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of Lipedema or that may cause disorders that could be confused withlipedema.
Journal ArticleDOI
Lipödem – Mythen und Fakten Teil 4
TL;DR: Darüber sollte die Liposuktion in ein Gesamtkonzept eingebunden werden, welches psychosoziale, ernährungs- and sportmedizinische Gesichtspunkte berücksichtigt.
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.