Rare Hematology News

Disease Profile

Adiposis dolorosa

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

E88.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Dercum disease; Dercum's disease

Categories

Skin Diseases

Summary

Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigue, and memory disturbances. It usually occurs in adults, and women are more commonly affected than men. Adiposis dolorosa is chronic and tends to be progressive. The exact cause is unknown. Most cases are sporadic (not inherited) but a few familial cases with autosomal dominant inheritance have been reported. The pain associated with adiposis dolorosa is difficult to treat. Surgical removal or liposuction may help, but lipomas may recur.[1][2][3][4][5]

Symptoms

Adiposis dolorosa is primarily characterized by the development of multiple, painful lipomas (benign growths consisting of fatty tissue). These fatty growths may occur anywhere on the body and may range in size from small to quite large. The condition mainly occurs in adults and is more common in women than in men.[5][3][4] The symptoms of adiposis dolorosa can vary significantly, and not all people have all symptoms. Symptoms that have been widely described include:[4]

  • painful lipomas
  • fatigue
  • memory disturbances
  • difficulty forming and expressing thoughts
  • rapid, unexplained weight gain
  • vascular problems (angiolipomas)
  • petechiae 
  • easy bruising
  • flushing
  • heavy or prolonged menstrual bleeding
  • unexplained blood in the urine (hematuria)
  • non-pitting edema in subcutaneous fat 
  • gastroesophageal reflux (GERD)
  • irritable bowel syndrome and other gastrointestinal problems
  • migraines
  • feeling of fullness
  • joint pain and/or stiffness (especially when fat deposits are present)
  • muscle pain and stiffness
  • shortness of breath
  • tachycardia (rapid heart rate)
  • sleep disturbances (insomnia)
  • depression and/or anxiety

The pain associated with adiposis dolorosa can be debilitating.[3][4] Due to its chronic and progressive nature, mobility may become a challenge.[4]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anxiety
Excessive, persistent worry and fear
0000739
Arthralgia
Joint pain
0002829
Depressivity
Depression
0000716
Fatigue
Tired
Tiredness

[ more ]

0012378
Obesity
Having too much body fat
0001513
Psychosis
0000709
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

0001482
30%-79% of people have these symptoms
Sparse axillary hair
Limited armpit hair
Little underarm hair

[ more ]

0002215
Sparse pubic hair
Decreased sexual hair
0002225
5%-29% of people have these symptoms
Arthritis
Joint inflammation
0001369
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Constipation
0002019
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Diarrhea
Watery stool
0002014
Dry skin
0000958
Headache
Headaches
0002315
Hypothyroidism
Underactive thyroid
0000821
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory

[ more ]

0002354
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Recurrent skin infections
Skin infections, recurrent
0001581
Seizure
0001250
Sleep disturbance
Difficulty sleeping
Trouble sleeping

[ more ]

0002360
Telangiectasia of the skin
0100585
Xerostomia
Dry mouth
Dry mouth syndrome
Reduced salivation

[ more ]

0000217
Percent of people who have these symptoms is not available through HPO
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Autosomal dominant inheritance
0000006
Chronic pain
Long-lasting pain
0012532
Middle age onset
0003596
Painful subcutaneous lipomas
Painful noncancerous fat tissue tumor under the skin
0007596
Variable expressivity
0003828

Cause

The underlying cause of adiposis dolorosa remains unknown. Possible causes have been suggested, but none have been confirmed. These have included long-term treatment with high-dose corticosteroids; endocrine system abnormalities; nervous system dysfunction; mechanical pressure on nerves, adipose tissue dysfunction; trauma; and changes in fatty acid or carbohydrate metabolism. Researchers have also suggested that it could be an autoimmune disorder.[3][5][6][4]

Because the condition has rarely occurred in more than one person within a family, it may have a genetic component. However, no specific gene known to be associated with the condition has been identified.[5][6][4]

The origin of the pain associated with the condition is also poorly understood. It is thought that fatty deposits cause nerve compression, resulting in weakness and pain.[2]

Diagnosis

A diagnosis of adiposis dolorosa can be made after a thorough physical exam, identifying the characteristic features, and ruling out other conditions.[1] The minimal diagnostic criteria are generalized overweight or obesity (most often) and chronic pain in the adipose tissue (for more than 3 months).[5] Surgical removal and biopsy of painful tissue may confirm that lipomas are present.[7] Genetic testing for adiposis dolorosa currently is not available.

The presence or absence of additional symptoms (or the body location of specific symptoms) may affect the specific diagnosis a person receives. For example:[5]

  • It has been proposed that those with painful, generalized overweight or obesity of the legs and feet should only be diagnosed with lipedema.
  • If there are isolated, painful lipomas or accumulations of fat, the diagnosis should be nodular Dercum’s disease.
  • In cases where the criteria are met for fibromyalgia, the primary diagnosis should be fibromyalgia and only if lipomas are also present should adiposis dolorosa also be diagnosed.
  • Those who only have excess fat accumulation in the head, neck region, and upper torso should be diagnosed with Madelung’s disease.

The types of doctors that may evaluate person with symptoms of adiposis dolorosa include internists, dermatologists, and endocrinologists. Once a diagnosis is made, other types of specialists may also be involved in the care of a person with adiposis dolorosa. These specialists may include plastic surgeons, pain specialists, and rheumatologists.

Treatment

Management of adiposis dolorosa is difficult. No treatments that are currently available have led to long-lasting, complete pain reduction.[5] Surgical removal of particularly burdensome lesions and/or liposuction may be helpful for some people. However, lipomas have been known to reoccur and even increase in number at the same site or a nearby location. Weight reduction may help with joint pain in some individuals, but has proven to be difficult to achieve and generally doesn't offer significant relief of symptoms.[4]

There is currently no drug known to change the course of the disease. Available medications mainly focus on alleviating symptoms and may include:[2]

  • prednisone or intravenous lidocaine for pain
  • traditional pain medicines such nonsteroidal anti-inflammatory drugs (which are often ineffective), or acetaminophen combined with an opioid analgesic
  • a cortisone/anesthetic injection for localized pain
  • diuretics for swelling of the fingers

Other treatments that have led to some pain reduction in some affected people include methotrexate and infliximab; interferon α-2b; calcium-channel modulators; and rapid cycling hypobaric pressure.[5] Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback.[2]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Adiposis dolorosa. This website is maintained by the National Library of Medicine.
      • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Adiposis dolorosa. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles

            References

            1. Emily Ryder. Dercum disease. DermNet NZ. May, 2014; https://www.dermnetnz.org/dermal-infiltrative/dercum.html.
            2. Laura F McGevna. Adiposis Dolorosa. Medscape Reference. February 6, 2015; https://emedicine.medscape.com/article/1082083-treatment.
            3. Learning About Dercum Disease. NHGRI. June 27, 2012; https://www.genome.gov/17516629.
            4. Dercum's Disease (DD). Fat Disorders Research Society. https://www.fatdisorders.org/dercums/.
            5. Emma Hansson, Henry Svensson, and Håkan Brorson. Review of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management. Orphanet J Rare Dis. 2012; 7:https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-23.
            6. Adiposis dolorosa. Genetics Home Reference. July, 2012; https://ghr.nlm.nih.gov/condition/adiposis-dolorosa.
            7. Dercum's disease. NORD. 2012; https://rarediseases.org/rare-diseases/dercums-disease/.

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