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Lipomatosis dolorosa

MedGen UID:
1757
Concept ID:
C0001529
Disease or Syndrome
Synonyms: Adiposis Dolorosa; Dercum disease; Dercum's disease
SNOMED CT: Lipomatosis dolorosa (71404003); Neurolipomatosis (71404003); Dercum's disease (71404003); Adiposis dolorosa (71404003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0007070
OMIM®: 103200
Orphanet: ORPHA36397

Definition

Adiposis dolorosa, also known as Dercum disease, is characterized by generalized obesity and pronounced, disabling, and chronic pain in the adipose tissue of the proximal extremities, trunk, pelvic area, and buttocks; the face and hands are usually spared. There are a number of associated symptoms, including multiple lipomas, generalized weakness, fatigue, sleep disturbances, constipation, and psychiatric abnormalities. It is 5 to 30 times more common in women than men, and usually presents between 35 and 50 years of age (summary by Campen et al., 2001; review by Hansson et al., 2012). Based on a review of the literature and studies of 111 patients, Hansson et al. (2012) proposed a classification of Dercum disease into 4 types: (I) generalized diffuse form without clear lipomas, (II) generalized nodular form with multiple lipomas, (III) localized nodular form, and (IV) juxtaarticular form with solitary fatty deposits near joints. [from OMIM]

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Chronic pain
MedGen UID:
57452
Concept ID:
C0150055
Finding
Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.
Painful subcutaneous lipomas
MedGen UID:
870393
Concept ID:
C4024838
Neoplastic Process
The presence of multiple subcutaneous lipoma that cause pain.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Sleep abnormality
MedGen UID:
52372
Concept ID:
C0037317
Finding
An abnormal pattern in the quality, quantity, or characteristics of sleep.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLipomatosis dolorosa
Follow this link to review classifications for Lipomatosis dolorosa in Orphanet.

Professional guidelines

PubMed

Hansson E, Svensson H, Brorson H
Orphanet J Rare Dis 2012 Apr 30;7:23. doi: 10.1186/1750-1172-7-23. PMID: 22546240Free PMC Article

Recent clinical studies

Diagnosis

Al Ghazal P, Grönemeyer LL, Schön MP
J Dtsch Dermatol Ges 2018 Mar;16(3):313-327. Epub 2018 Feb 12 doi: 10.1111/ddg.13460. PMID: 29431910
Wortham NC, Tomlinson IP
Skinmed 2005 May-Jun;4(3):157-62; quiz 163-4. doi: 10.1111/j.1540-9740.2005.03675.x. PMID: 15891252

Therapy

Al Ghazal P, Grönemeyer LL, Schön MP
J Dtsch Dermatol Ges 2018 Mar;16(3):313-327. Epub 2018 Feb 12 doi: 10.1111/ddg.13460. PMID: 29431910
Lange U, Oelzner P, Uhlemann C
Rheumatol Int 2008 Nov;29(1):17-22. Epub 2008 Jul 5 doi: 10.1007/s00296-008-0635-3. PMID: 18604537

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