MCID: LPD026
MIFTS: 30

Lipedema

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Lipedema

MalaCards integrated aliases for Lipedema:

Name: Lipedema 57 53 59 6 73

Characteristics:

Orphanet epidemiological data:

59
lipedema
Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe);

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
virtually all patients with this condition are female
torso and upper body remain normal in shape and contour
feet are unaffected


HPO:

32
lipedema:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 614103
Orphanet 59 ORPHA77243
UMLS via Orphanet 74 C0398370
ICD10 via Orphanet 34 E65
MedGen 42 C0398370
UMLS 73 C0398370

Summaries for Lipedema

NIH Rare Diseases : 53 Lipedema is a disorder characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin. It is a common condition, occurring almost exclusively in women (affecting up to 11% of women). The cause of lipedema is unknown; however, there is evidence of hormonal and hereditary influences. Many people with lipedema have a family history of similarly enlarged legs. While there is no one effective treatment for lipedema, a number of therapies may be useful in managing symptoms.

MalaCards based summary : Lipedema is related to lymphedema and sotos syndrome 1. An important gene associated with Lipedema is NSD1 (Nuclear Receptor Binding SET Domain Protein 1). Affiliated tissues include skin, bone and adipocyte, and related phenotypes are lipodystrophy and edema of the lower limbs

OMIM : 57 Lipedema is a disorder of adipose tissue characterized by fat legs and orthostatic edema. Characteristically, the buttocks and other parts of the lower extremities are symmetrically enlarged owing to accumulation of excess fat and fluid. The condition affects women almost exclusively and, in most instances, represents an exaggeration of the female form (summary by Hines, 1952). (614103)

Wikipedia : 76 Lipedema is a disorder where there is enlargement of both legs due to deposits of fat under the skin.... more...

Related Diseases for Lipedema

Diseases related to Lipedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 lymphedema 10.5
2 sotos syndrome 1 9.9
3 varicose veins 9.9
4 williams-beuren syndrome 9.9
5 pseudoxanthoma elasticum 9.9
6 asthma 9.9
7 alopecia 9.9
8 childhood type dermatomyositis 9.9
9 dermatomyositis 9.9
10 myiasis 9.9
11 vascular disease 9.9
12 calcinosis 9.9
13 depression 9.9

Graphical network of the top 20 diseases related to Lipedema:



Diseases related to Lipedema

Symptoms & Phenotypes for Lipedema

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
excess fat, symmetrically located in buttocks and lower extremities to ankles
fat pad anterior to malleolus
fat pad between achilles tendon and medial malleolus
tenderness of lower extremities
easy bruisability of lower extremities
more
Neurologic Central Nervous System:
burning or tingling of plantar surface of foot (in some patients)


Clinical features from OMIM:

614103

Human phenotypes related to Lipedema:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009125
2 edema of the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0010741
3 edema 32 HP:0000969
4 lipedema 32 HP:0100695

Drugs & Therapeutics for Lipedema

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Safety and Efficacy of RZL-012 for the Treatment of Lipedema or of Nodular Dercum's Disease Recruiting NCT03492840 Phase 2 RZL-012
2 Physical Condition in Lipedema and Obesity Completed NCT01759004 Not Applicable
3 Quadrivas Therapy® to Reduce Lipedema Subcutaneous Adipose Tissue (QUADRIVAS) Completed NCT02907411 Not Applicable
4 Immune Characterization of Subcutaneous Adipose Tissue Completed NCT02076087
5 Effect of Weight Loss on Body Composition and Metabolic Function in Women With Lipedema Recruiting NCT03271034 Not Applicable
6 Effect of an Low Carbon High Fat Diet on Pain- and Quality of Life in Patients With Lipedema Recruiting NCT03710798 Not Applicable
7 Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study Recruiting NCT03758651
8 Insight Into Subcutaneous Adipose Tissue Disorders Recruiting NCT02838277
9 Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders Enrolling by invitation NCT00833599 NIRFLI with ICG
10 Complete Decongestive Therapy With Negative Pressure for Lipedema and Lymphedema Therapy Not yet recruiting NCT03634462 Not Applicable

Search NIH Clinical Center for Lipedema

Genetic Tests for Lipedema

Anatomical Context for Lipedema

MalaCards organs/tissues related to Lipedema:

41
Skin, Bone, Adipocyte

Publications for Lipedema

Articles related to Lipedema:

(show top 50) (show all 65)
# Title Authors Year
1
Low-frequency vibrotherapy considerably improves the effectiveness of manual lymphatic drainage (MLD) in patients with lipedema: A two-armed, randomized, controlled pragmatic trial. ( 29847188 )
2018
2
Tissue Sodium Content is Elevated in the Skin and Subcutaneous Adipose Tissue in Women with Lipedema. ( 29280322 )
2018
3
Lipedema: friend and foe. ( 29522416 )
2018
4
Depression and appearance-related distress in functioning with lipedema. ( 29614880 )
2018
5
Lipedema. ( 29143577 )
2018
6
Lymphoscintigraphic findings in patients with lipedema. ( 30166264 )
2018
7
Left ventricular rotational mechanics differ between lipedema and lymphedema: Insights from the three-dimensional speckle tracking echocardiographic MAGYAR-path study. ( 30422432 )
2018
8
Lipedema: A Commonly Misdiagnosed Fat Disorder. ( 30507813 )
2018
9
Liposuction in the Treatment of Lipedema: A Longitudinal Study. ( 28728329 )
2017
10
Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report. ( 28254647 )
2017
11
Pilot study: whole body manual subcutaneous adipose tissue (SAT) therapy improved pain and SAT structure in women with lipedema. ( 28930626 )
2017
12
The adipose tissue-derived stromal vascular fraction cells from lipedema patients: Are they different? ( 28454682 )
2017
13
S1 guidelines: Lipedema. ( 28677175 )
2017
14
Measurement of capillary fragility: a useful tool to differentiate lipedema from obesity? ( 30248725 )
2017
15
First Dutch guidelines on lipedema using the international classification of functioning, disability and health. ( 27075680 )
2016
16
Lipedema: diagnostic and management challenges. ( 27570465 )
2016
17
Lipedema in patients after bariatric surgery. ( 27317598 )
2016
18
Lipedema A9 lack of evidence for the involvement of tyrosine kinases. ( 27049087 )
2016
19
Differentiating lipedema and Dercum's disease. ( 27857136 )
2016
20
Lipedema: A Relatively Common Disease with Extremely Common Misconceptions. ( 27757353 )
2016
21
Pathophysiological dilemmas of lipedema. ( 25200646 )
2014
22
Evaluation of Patient-relevant Outcomes of Lymphedema and Lipedema Treatment: Development and Validation of a New Benefit Tool. ( 24239143 )
2014
23
You mean it's not my fault: learning about lipedema, a fat disorder. ( 25130361 )
2014
24
Lipedema: A Review of the Literature. ( 25326446 )
2014
25
Treatment of elderly patients with advanced lipedema: a combination of laser-assisted liposuction, medial thigh lift, and lower partial abdominoplasty. ( 24489474 )
2014
26
Application of microcurrents of bioresonance and transdermal delivery of active principles in lymphedema and lipedema of the lower limbs: a pilot study. ( 25664822 )
2014
27
Lower extremity lipedema, upper extremity lipodystrophy and severe calcinosis complicating juvenile dermatomyositis. ( 24789670 )
2014
28
Acute epidural lipedema: a novel entity and potential complication of bone morphogenetic protein use in lumbar spine fusion. ( 23800822 )
2013
29
Lipedema: is aesthetic cellulite an aggravating factor for limb perimeter? ( 24163538 )
2013
30
Thick legs - not always lipedema. ( 23231593 )
2013
31
Is lymphostasis an aggravant of lipedema? ( 23185156 )
2012
32
Long-term Outcome After Surgical Treatment of Lipedema. ( 21629090 )
2012
33
Lipedema: an overview of its clinical manifestations, diagnosis and treatment of the disproportional fatty deposition syndrome - systematic review. ( 25586162 )
2012
34
Lipedema is associated with increased aortic stiffness. ( 23057152 )
2012
35
Lymphedema treatment decreases pain intensity in lipedema. ( 22458119 )
2011
36
Lymphedema and lipedema - an overview of conservative treatment. ( 21780050 )
2011
37
Lipedema, a rare disease. ( 22506222 )
2011
38
Liposuction is an effective treatment for lipedema-results of a study with 25 patients. ( 21166777 )
2011
39
Lipedema with multiple lipomas. ( 20875325 )
2010
40
Lipedema: an inherited condition. ( 20358611 )
2010
41
Lipedema: a frequently misdiagnosed and misunderstood fatty deposition syndrome. ( 20087075 )
2010
42
Microcannular tumescent liposuction in advanced lipedema and Dercum's disease. ( 20467389 )
2010
43
Adipose tissue remodeling in lipedema: adipocyte death and concurrent regeneration. ( 19281484 )
2009
44
MR imaging of the lymphatic system in patients with lipedema and lipo-lymphedema. ( 19323976 )
2009
45
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema. ( 19545651 )
2009
46
Complex decongestive physiotherapy decreases capillary fragility in lipedema. ( 19306662 )
2008
47
Complete decongestive physiotherapy with and without pneumatic compression for treatment of lipedema: a pilot study. ( 18581957 )
2008
48
Lipedema and lipedematous alopecia: report of 10 new cases. ( 17540658 )
2007
49
Lipedema, a frequently unrecognized problem. ( 17637360 )
2007
50
Tumescent liposuction: a new and successful therapy for lipedema. ( 17241565 )
2006

Variations for Lipedema

Expression for Lipedema

Search GEO for disease gene expression data for Lipedema.

Pathways for Lipedema

GO Terms for Lipedema

Sources for Lipedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....