Adiposis dolorosa
From Wikipedia, the free encyclopedia
| Adiposis dolorosa Classification and external resources |
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| ICD-10 | E88.2 |
|---|---|
| ICD-9 | 272.8 |
| OMIM | 103200 |
| DiseasesDB | 29660 |
| eMedicine | derm/839 |
| MeSH | D000274 |
Adiposis dolorosa, also known as Dercum's disease[1] (sometimes called Ander's disease), is a rare disease characterized by multiple painful lipomas[2] that arise in adult life. Older medical literature states that "the disease occurs most often in obese postmenopausal women, but can also occur in men." Surveys of current sufferers seem to indicate that the disease causes the obesity. It also occurs in men and women of all ages. The fatty tumors are most often located on the trunk and limbs with sparing of the face and hands. It was first formally described by Francis Xavier Dercum in 1888.
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[edit] Presentation
First identified by Dercum, in 1892, Dercum's disease (also Dercum disease or Adiposis Dolorosa) is described several ways in the literature. Here are two:
- "A disease accompanied by painful localized fatty swellings and by various nerve lesions. It is usually seen in women and may cause death from pulmonary complications."(Dorland, 27th ed)[3]
Paraphrasing NIH's National Organization of Rare Disorders (NORD):
- Dercum's disease is a rare disorder in which there are fatty deposits which apply pressure to the nerves, resulting in weakness and pain. Various areas of the body may swell for no apparent reason. The swelling may disappear without treatment, leaving hardened tissue or pendulous skin folds.
Morbus Dercum (Adiposis Dolorosa) is a chronic disease with mild to intensive pain in the fatty tissue, fatigue and obesity as the most apparent symptoms. But the disease affects the entire body and can present a long list of symptoms. This disorder usually occurs in postmenopausal females[4] between the ages of 25 and 60, but can début in all ages, as well as in younger people and amongst males. It is about 20 times more frequent in females than in males.
[edit] Causes
The mechanism is currently unknown.[5] A autosomal dominant pattern of of inheritance has been suggested for some cases, but no associated gene has been identified so far.[2]
[edit] History
Dercum's disease was originally described in the medical literature in 1892 by the American doctor Frances Xavier Dercum.[6]
[edit] Symptoms
Pain in the fatty tumors lasting for at least three months. Often obesity occurs in a short period of time. But there is also a type of Dercum's disease that can occur with normal weight. The pain in fat and skin can be very intense, and can be described as aching, stabbing, smarting or burning. Swellings consisting of irregularly shaped soft fatty tissue deposits may occur in many areas of the body. These deposits may spontaneously disappear, leaving hardened lumpy or rope-like tissue or pendulous folds of skin. The pain is chronic and increases with the years, but varies much in cycles. It can exist in practically the entire fatty tissue layer, but most commonly affected are the knees, trunk, forearms and thighs, sometimes sparing of the face and hands. Severe asthenia (weakness)has been emphasized as a feature by some. The pain is spontaneous and increases powerfully even at gentle touch, and massage can feel unpleasant. Some affected individuals may experience depression, lethargy, and/or confusion. Lipomas, "fatty tumors " can be felt in the fat, they are intensely painful, and usually harmless, unless a tumor moves to the lung or heart which can be fatal.
Other common symptoms are:
- Various areas of the body may swell for no apparent reason. The fingers becomes clumsy, a person may drop things and sometimes the fingers go numb.
- Disturbed sleep, many have difficulties going to sleep because of the pain, but other forms of sleeping disorders also occur.
- General fatigue, worsening with even mild activity.
- Tendency to become black and blue; this seems to arise spontaneously or after alleviated blow.
- Stiffness after resting especially in the mornings.
- Skeletal pain in wrist, elbows, hips, tail bone and the long bones of the arms and legs.
- Headache, usually a combination between tension headache and classic migraine.
- Memory lapses and concentration difficulties making it difficult to learn new things and to accomplish intellectually demanding jobs.
- Feeling hot is often felt by the patients, some have 37.5 to 39 Celsius degree fever several weeks in a row, with increased pain and incapacity to work as a consequence. The reasons are unknown.
- Tenderness under the feet, akin to walking on glass.
- Tenderness in the skin, difficulties in wearing tight fitting clothes or taking a shower.
- Infection sensitivity. Frequently increased pain during infections or active allergy attacks.
The pain seems to depend on the temperature and the weather and decreases normally at dry heat. Warm baths have a positive but temporary impact, though some patients do not tolerate heat. Generally increases pain in conjunction with menstruation. Sexual relation problems can arise because of the pain. Dercum's pain always exists, regardless if a person is asleep or awake. The diagnosis of Dercum's disease implies a long, chronic pain syndrome of debilitating nature. The pain can make it difficult to: walk, drive a car, open the water tap, lift items from shelves, carry bags, open heavy doors, vacuum, hang laundry, wash floors, wipe windows etc.
[edit] Causes
The causes of the disease are poorly researched. The symptoms and the lack of treatments can seriously affect the quality of life. Since the disorder does not show on the outside it can be hard for others to see the level of difficulties and discomfort the patient experiences. More than half of the patients are unable to work. The disorder can grow slowly for many years or very quickly because of external stress, such as: surgery, pregnancy or flu. Dercum's disease is thought to be inherited as an autosomal dominant genetic trait, particularly strong in the line grandmother-mother-daughter. According to the latest research, Dercum's disease is an auto-immune disease such as rheumatism, and not a metabolic disturbance, as was believed earlier.
[edit] Diagnosis
A diagnosis of Dercum's disease is based on what the patient tells and what the doctor finds at his examination. There are no tests to take, but some blood samples can show signs of infection and/or that the immune system are very active. The doctor can also take blood samples in order to exclude other diseases. The knowledge about the disorder is not well know and many patients are poorly treated.
Magnetic resonance imaging can play a role in diagnosis.[4]
[edit] Treatment
Treatment methods include:
[edit] Surgery
- Surgical excision of fatty tissue deposits around joints (liposuction) has been used in some cases.[7] It may temporarily relieve symptoms although recurrences often develop.[citation needed]
[edit] Medication
- The use of infliximab and methotrexate has been proposed.[8]
- Intravenous infusions of the local anaesthetic drug lidocaine may give temporary relief from pain.[9] Additional treatments of lidocaine may be necessary periodically to sustain the effect.[citation needed]
- Another analgesic drug, peroral mexiletine, may also be effective in eliminating pain for variable periods of time.[10]
[edit] Other
- Psychotherapy may be helpful for enabling affected individuals to cope with long-term intense pain.
- Massage
- Warmth and warm baths
- Acupuncture
- Practicing relaxation techniques
- Avoiding physical and psychological stress
- Attempts have been made to get patients to lose weight, but it is extremely difficult. If the patients succeed, the weight loss has little or no effect on the symptoms.[citation needed]
[edit] New research
Karen Herbst is a researcher with interests in fatty disorders, including Adiposis Dolorosa. She is currently doing research for the VA Hospital in San Diego.[11]
[edit] References
- ^ synd/1453 at Who Named It
- ^ a b Campen R, Mankin H, Louis DN, Hirano M, Maccollin M (January 2001). "Familial occurrence of adiposis dolorosa". J. Am. Acad. Dermatol. 44 (1): 132–6. doi:. PMID 11148491.
- ^ This definition is found in National Library of Medicine: IGM Metathesaurus Information.
- ^ a b Amine B, Leguilchard F, Benhamou CL (March 2004). "Dercum's disease (adiposis dolorosa): a new case-report". Joint Bone Spine 71 (2): 147–9. doi:. PMID 15050201.
- ^ Wortham NC, Tomlinson IP (2005). "Dercum's disease". Skinmed 4 (3): 157–62; quiz 163–4. PMID 15891252.
- ^ Dercum, F. X. Three cases of a hitherto unclassified affection resembling in its grosser aspects obesity, but associated with special nervous symptoms: adiposis dolorosa. Am. J. Med. Sci. 104: 521-535, 1892.
- ^ De Silva M, Earley MJ (June 1990). "Liposuction in the treatment of juxta-articular adiposis dolorosa". Ann. Rheum. Dis. 49 (6): 403–4. PMID 2383065.
- ^ Singal A, Janiga JJ, Bossenbroek NM, Lim HW (May 2007). "Dercum's disease (adiposis dolorosa): a report of improvement with infliximab and methotrexate". J Eur Acad Dermatol Venereol 21 (5): 717. doi:. PMID 17448013.
- ^ Devillers AC, Oranje AP (May 1999). "Treatment of pain in adiposis dolorosa (Dercum's disease) with intravenous lidocaine: a case report with a 10-year follow-up". Clin. Exp. Dermatol. 24 (3): 240–1. PMID 10354189.
- ^ Steiner J, Schiltz K, Heidenreich F, Weissenborn K (February 2002). "[Lipomatosis dolorosa--a frequently overlooked disease picture]" (in German). Nervenarzt 73 (2): 183–7. PMID 11975097.
- ^ Karen L. Herbst, Ph.D., M.D.
[edit] External links
- Dercum's Disease (www.dercum.org)
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