Adiposis dolorosa

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.

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.

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.

A diagnosis of adiposis dolorosa can be made after a thorough physical exam, identifying the characteristic features, and ruling out other conditions. The minimal diagnostic criteria are generalized overweight or obesity (most often) and chronic pain in the adipose tissue (for more than 3 months). Surgical removal and biopsy of painful tissue may confirm that lipomas are present. 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:

• 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.

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. 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.

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.

Management of adiposis dolorosa is difficult. No treatments that are currently available have led to long-lasting, complete pain reduction. 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.

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

• 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. Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback.

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.

Herbst KL. Rare adipose disorders (RADs) masquerading as obesity. Acta Pharmacol Sin. 2012 Feb;33(2):155-72.