Adiposis dolorosa

Title

Other Names:

Dercum disease; Dercum's disease

Categories:

Skin Diseases

Summary 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]

Last updated: 10/20/2016

Symptoms 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]

Last updated: 10/20/2016

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Anxiety	Very frequent (present in 80%-99% of cases)
Arthralgia	Very frequent (present in 80%-99% of cases)
Depression	Very frequent (present in 80%-99% of cases)
Fatigue	Very frequent (present in 80%-99% of cases)
Obesity	Very frequent (present in 80%-99% of cases)
Psychosis	Very frequent (present in 80%-99% of cases)
Subcutaneous nodule	Very frequent (present in 80%-99% of cases)
Sparse axillary hair	Frequent (present in 30%-79% of cases)
Sparse pubic hair	Frequent (present in 30%-79% of cases)
Arthritis	Occasional (present in 5%-29% of cases)
Autoimmunity	Occasional (present in 5%-29% of cases)
Bruising susceptibility	Occasional (present in 5%-29% of cases)
Constipation	Occasional (present in 5%-29% of cases)
Developmental regression	Occasional (present in 5%-29% of cases)
Diarrhea	Occasional (present in 5%-29% of cases)
Dry skin	Occasional (present in 5%-29% of cases)
Headache	Occasional (present in 5%-29% of cases)
Hypothyroidism	Occasional (present in 5%-29% of cases)
Memory impairment	Occasional (present in 5%-29% of cases)
Paresthesia	Occasional (present in 5%-29% of cases)
Recurrent skin infections	Occasional (present in 5%-29% of cases)
Seizures	Occasional (present in 5%-29% of cases)
Sleep disturbance	Occasional (present in 5%-29% of cases)
Telangiectasia of the skin	Occasional (present in 5%-29% of cases)
Xerostomia	Occasional (present in 5%-29% of cases)
Autosomal dominant inheritance	-
Chronic pain	-
Middle age onset	-
Painful subcutaneous lipomas	-
Variable expressivity	-

Last updated: 9/1/2017

Cause 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]

Last updated: 10/20/2016

Inheritance Inheritance

Most cases of adiposis dolorosa are sporadic (not inherited). This means that it usually occurs in people with no family history of the condition. Adiposis dolorosa has rarely been reported to occur in more than one family member. In some of these cases, it appears to have been inherited in an autosomal dominant manner.^[3]^[6] In these cases, when an affected person has children, each child has a 50% (1 in 2) risk to inherit the gene causing the condition. However, specific genes known to cause the condition have not been identified.^[3]^[6]

Last updated: 10/20/2016

Diagnosis Diagnosis

A diagnosis of adiposis dolorosa can be made after a thorough physical exam, identification of the characteristic features, and exclusion of other conditions.^[1] The minimal diagnostic criteria are generalized overweight or obesity and chronic pain (for more than 3 months) in the adipose tissue.^[5] Surgical removal and biopsy of affected tissue may confirm that lesions are lipomas.^[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 diagnosis a person receives. For example, It has been proposed that those with painful, generalized overweight or obesity of the lower extremities 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; 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.^[5]

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 affected individuals. These specialists may include plastic surgeons, pain specialists, and rheumatologists.

Last updated: 10/21/2016

Treatment 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]

Last updated: 10/20/2016

Statistics Statistics

Adiposis dolorosa is rare and to our knowledge, the prevalence (in the United States or worldwide) has not been established. In the United States, a rare disease is generally considered to be a disease that affects fewer than 200,000 people.

The condition most commonly develops between the ages of 45 and 60 years. It is 20 times more common in females who are postmenopausal, obese, or overweight. It may occur in women younger than age 45, but is almost never seen in children.^[2]

Last updated: 10/20/2016

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
ClinicalTrials.gov lists trials that are studying or have studied Adiposis dolorosa. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations 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

American Chronic Pain Association (ACPA)
P.O. Box 850
Rocklin, CA 95677-0850
Toll-free: 800-533-3231
Telephone: 916-632-0922
Fax: 916-632-3208
E-mail: ACPA@pacbell.net
Website: https://theacpa.org/
Fat Disorders Research Society
PO Box 3014
Ridgefield, NJ 07657
E-mail: http://www.fatdisorders.org/about-fdrs/contact-us
Website: http://www.fatdisorders.org

Social Networking Websites

The Dercum's Disease Support Group is a community of patients, family members and friends dedicated to dealing with Dercum's Disease, together. Click on the link above to learn more about this online community.
Visit the following Facebook groups or pages related to Adiposis dolorosa:
Dercum's Disease Research
Dercum's disease~
DERCUM'S RESEARCH
Dercum's NETWORK
Dercum Q&A

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Healthcare Resources

The Fat Disorders Research Society has a Doctor Directory that lists physicians with knowledge of Adiposis dolorosa.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.
Genetics Home Reference (GHR) contains information on Adiposis dolorosa. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
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

Hansson E, Svensson H, Brorson H. Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management. Orphanet Journal of Rare Diseases. 2012; 7:23.

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GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

How many people with this disease are estimated to live in the US? Are the lipomas constantly painful or does the pain come and go? What advice would you give to a patient regarding home treatment of symptoms? See answer
Has there been enough genetic testing for this problem to identify a genetic marker? Can the children of an affected person have testing done to rule out or identify the presence of the gene? Also, I have not read that severe hyperlipidemia is a symptom. I believe that it is. Can you confirm this? See answer
Is there or will there be any research or attempt at cures done on the rare disease of Dercums? See answer

Have a question? Contact a GARD Information Specialist.