Review of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management

Orphanet Journal of Rare Diseases

Håkan Brorson¹  Henry Svensson¹  Emma Hansson² 

[1] Department of Clinical Sciences in Malmö, Lund University, Plastic and Reconstructive Surgery, Skåne University Hospital, Malmö, Sweden;Plastic and Reconstructive Surgery, Skåne University Hospital, SE-205 02, Malmö, Sweden

关键词: Diagnostic criteria;    Adipose tissue;    Chronic pain;    Adiposalgia;    Adiposis dolorosa;    Dercum’s disease;   

Others  :  864431
DOI  :  10.1186/1750-1172-7-23

 received in 2011-09-30, accepted in 2012-04-06,  发布年份 2012

【 摘 要 】

Definition and clinical picture

We propose the minimal definition of Dercum’s disease to be generalised overweight or obesity in combination with painful adipose tissue. The associated symptoms in Dercum’s disease include fatty deposits, easy bruisability, sleep disturbances, impaired memory, depression, difficulty concentrating, anxiety, rapid heartbeat, shortness of breath, diabetes, bloating, constipation, fatigue, weakness and joint aches.

Classification

We suggest that Dercum’s disease is classified into: I. Generalised diffuse form A form with diffusely widespread painful adipose tissue without clear lipomas, II. Generalised nodular form - a form with general pain in adipose tissue and intense pain in and around multiple lipomas, and III. Localised nodular form - a form with pain in and around multiple lipomas IV. Juxtaarticular form - a form with solitary deposits of excess fat for example at the medial aspect of the knee.

Epidemiology

Dercum’s disease most commonly appears between the ages of 35 and 50 years and is five to thirty times more common in women than in men. The prevalence of Dercum’s disease has not yet been exactly established.

Aetiology

Proposed, but unconfirmed aetiologies include: nervous system dysfunction, mechanical pressure on nerves, adipose tissue dysfunction and trauma.

Diagnosis and diagnostic methods

Diagnosis is based on clinical criteria and should be made by systematic physical examination and thorough exclusion of differential diagnoses. Advisably, the diagnosis should be made by a physician with a broad experience of patients with painful conditions and knowledge of family medicine, internal medicine or pain management. The diagnosis should only be made when the differential diagnoses have been excluded.

Differential diagnosis

Differential diagnoses include: fibromyalgia, lipoedema, panniculitis, endocrine disorders, primary psychiatric disorders, multiple symmetric lipomatosis, familial multiple lipomatosis, and adipose tissue tumours.

Genetic counselling

The majority of the cases of Dercum’s disease occur sporadically. A to G mutation at position A8344 of mitochondrial DNA cannot be detected in patients with Dercum’s disease. HLA (human leukocyte antigen) typing has not revealed any correlation between typical antigens and the presence of the condition.

Management and treatment

The following treatments have lead to some pain reduction in patients with Dercum’s disease: Liposuction, analgesics, lidocaine, methotrexate and infliximab, interferon α-2b, corticosteroids, calcium-channel modulators and rapid cycling hypobaric pressure. As none of the treatments have led to long lasting complete pain reduction and revolutionary results, we propose that Dercum’s disease should be treated in multidisciplinary teams specialised in chronic pain.

Prognosis

The pain in Dercum’s disease seems to be relatively constant over time.

【 授权许可】

   
2012 Hansson et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

• [1]Adiposis dolorosa http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36397 webcite
• [2]Dercum’s Disease http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/490/viewAbstract webcite
• [3]Dercum FX: A subcutaneous connective tissue dystrophy of the arms and back, associated with symptoms resembling myxoedema. University Med Mag (Philadelphia) 1888, 1:1-11.
• [4]Brorson H, Fagher B: Dercum’s disease. Fatty tissue rheumatism caused by immune defense reaction? Läkartidningen 1996, 93:1433-1436.
• [5]Lange U, Oelzner P, Uhlemann C: Dercum’s disease (Lipomatosis dolorosa): successful therapy with pregabalin and manual lymphatic drainage and a current overview. Rheumatol Int 2008, 29:17-22.
• [6]Dercum FX: 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 1892, 101:521-523.
• [7]Herbst KL, Asare-Bediako S: Adiposis dolorosa is more than painful fat. The Endocrinologist 2007, 17:326-334.
• [8]Roux J, Vitaut M: Maladie de Dercum (Adiposis dolorosa). Revue Neurol (Paris) 1901, 9:881-888.
• [9]Labbé M, Boulin R: Lipomatose douloureuse et maladie de Dercum. Bull Mem Soc Med Hop Paris 1927, 51:687-695.
• [10]Stern H: Adiposis dolorosa with myxoedematous manifestations. Am J Med Sci 1910, 139:359-363.
• [11]Gram HC: A symptom-triad of the post-climacteric period (Adipositas dolorsa-Arthritis genuum- Hypertensio arterialis). Acta Med Scand 1930, 73:139.
• [12]Resta O, Foschino-Barbaro MP, Legari G, Talamo S, Bonfitto P, Palumbo A, Minenna A, Giorgino R, De Pergola G: Sleep-related breathing disorders, loud snoring and excessive daytime sleepiness in obese subjects. Int J Obes Relat Metab Disord 2001, 25:669-675.
• [13]Okifuji A, Donaldson GW, Barck L, Fine PG: Relationship between fibromyalgia and obesity in pain, function, mood, and sleep. J Pain 2011, 11:1329-1337.
• [14]Narici MV, Maffulli N: Sarcopenia: characteristics, mechanisms and functional significance. Br Med Bull 2010, 95:139-159.
• [15]Katona C, Peveler R, Dowrick C, Wessely S, Feinmann C, Gask L, Lloyd H, Williams AC, Wager E: Pain symptoms in depression: definition and clinical significance. Clin Med 2005, 5:390-395.
• [16]Raphael KG, Janal MN, Nayak S: Comorbidity of fibromyalgia and posttraumatic stress disorder symptoms in a community sample of women. Pain Med 2004, 5:33-41.
• [17]Petry NM, Barry D, Pietrzak RH, Wagner JA: Overweight and obesity are associated with psychiatric disorders: results from the National Epidemiologic Survey on Alcohol and Related Conditions. Psychosom Med 2008, 70:288-297.
• [18]Moi L, Canu C, Pirari P, Mura MN, Piludu G, Del Giacco GS: Dercum’s disease: a case report. Ann Ital Med Int 2005, 20:187-191.
• [19]Blomstrand R, Juhlin L, Nordenstam H, Ohlsson R, Werner B, Engstrom J: Adiposis dolorosa associated with defects of lipid metabolism. Acta Derm Venereol 1971, 51:243-250.
• [20]Hovesen E: [Adiposis doloros (Dercum’s syndrome). Nord Med 1953, 50:971-973.
• [21]Iwane T, Maruyama M, Matsuki M, Ito Y, Shimoji K: Management of intractable pain in adiposis dolorosa with intravenous administration of lidocaine. Anesth Analg 1976, 55:257-259.
• [22]Jensen JJ, Kiilerich S: A case of adiposis dolorosa–Dercum’s disease. Ugeskr Laeger 1991, 153:3564.
• [23]Lemont H, Picciotti J, Pruzansky J: Dercum’s disease. J Am Podiatry Assoc 1979, 69:389-391.
• [24]Pouliquen A, Baize P, Lebosse J, Fellion G: What remains of Dercum’s disease? Ann Med Psychol (Paris) 1984, 142:730-737.
• [25]Sierro C, Suter PM, Vetter W: Painful lipoma? Schweiz Rundsch Med Prax 2002, 91:129-132.
• [26]Spaeth W: Adiposis dolorosa with report of a case. NC Med J 1949, 5:269-273.
• [27]Steiner J, Schiltz K, Heidenreich F, Weissenborn K: Lipomatosis dolorosa–a frequently overlooked disease picture. Nervenarzt 2002, 73:183-187.
• [28]Szypula I, Kotulska A, Szopa M, Pieczyrak R, Kucharz E: Adiposis dolorosa with hypercholesterolemia and premature severe generalized atherosclerosis. Wiad Lek 2009, 62:64-65.
• [29]Kosseifi S, Anaya E, Dronovalli G, Leicht S: Dercum’s Disease: An Unusual Presentation. Pain Med 2010, 11:1430-1434.
• [30]Haddad D, Athmani B, Costa A, Cartier S: Dercum’s disease: a severe complication in a rare disease. A case report. Ann Chir Plast Esthet 2005, 50:247-250.
• [31]Kyllerman M, Brandberg G, Wiklund LM, Mansson JE: Dysarthria, progressive parkinsonian features and symmetric necrosis of putamen in a family with painful lipomas (Dercum disease variant). Neuropediatrics 2002, 33:69-72.
• [32]Rosenberg B, Hurwitz A, Hermann H: Decum’s disease with unusual retroperitoneal and paravesical fatty infiltration. Surgery 1963, 54:451-455.
• [33]Dercum FX, McCarthy DJ: Autopsy in a case of adiposis dolorosa. Am J Med Sci 1902, 124:994-1006.
• [34]Trentin C, Di Nubila B, Cassano E, Bellomi M: A rare cause of mastalgia: Dercum’s disease (adiposis dolorosa). Tumori 2008, 94:762-764.
• [35]Genc V, Genc A, Ustuner E, Dusunceli EB, Oztuna D, Bayar S, Kurtais Y: Is there an association between mastalgia and fibromyalgia? Comparing prevalence and symptom severity. Breast 2011, 20:314-318.
• [36]Reece PH, Wyatt M, O’Flynn P: Dercum’s disease (adiposis dolorosa). J Laryngol Otol 1999, 113:174-176.
• [37]Dercum FX: Adiposis dolorosa. In Twentieth century practice. Volume 11. Edited by Stedman TL. William Wood, New York; 1897:554-561.
• [38]Kawale J, Mahore A, Dange N, Bhoyar K: Adiposis dolorosa of scalp presenting with severe headache: an unusual case. J Headache Pain 2010, 11:539-541.
• [39]Margherita G: Considerations on a case of post-traumatic adiposis dolorosa associated with a pathologic fracture. Rass Neuropsichiatr 1964, 18:211-218.
• [40]Tsang C, Aggarwal R, Bonanomi G: Dercum’s disease as a cause of weight loss failure after gastric bypass surgery. Surg Obes Relat Dis 2011, 7:243-245.
• [41]Giudiceandrea V: L’adiposis dolorosa (malattia di Dercum). Riv Patol Nerv Ment 1900, V:289-304.
• [42]Tiesmeier J, Warnecke H, Schuppert F: An uncommon cause of recurrent abdominal pain in a 63-year-old obese woman. Dtsch Med Wochenschr 2006, 131:434-437.
• [43]Kling D: Juxta-articular adiposis dolorosa. Its significance and relation to Dercum’s disease and osteo-arthritis. Arch Surg 1937, 34:599-630.
• [44]Eisman J, Swezey RL: Juxta-articular adiposis dolorosa: what is it? Report of 2 cases. Ann Rheum Dis 1979, 38:479-482.
• [45]Weinberger A, Wysenbeec AJ, Pinkhas J: Juxta-articular adiposis dolorosa associated with rheumatoid arthritis. Report of 2 cases with good response to local corticosteroid injection. Clin Rheumatol 1987, 6:446-448.
• [46]Hansson E, Svensson H, Brorson H: Liposuction may reduce pain in Dercum’s disease (adiposis dolorosa). Pain Med 2011, 12:942-952.
• [47]Hansson E, Svensson H, Stenram U, Brorson H: Histology of adipose tissue inflammation in Dercum’s disease, obesity and normal weight controls: a case control study. J Inflamm (Lond) 2011, 8:24. BioMed Central Full Text
• [48]Hansson E, Svensson H, Rosen I, Brorson H: Thermal and vibratory thresholds after liposuction in patients with Dercum’s disease. J Plast Surg Hand Surg 2011, 45:72-76.
• [49]Wortham NC, Tomlinson IP: Dercum’s disease. Skinmed 2005, 4:157-162. quiz 163–154
• [50]Bonatus TJ, Alexander AH: Dercum’s disease (adiposis dolorosa). A case report and review of the literature. Clin Orthop Relat Res 1986, 205:251-253.
• [51]Waldorp NW: An original clinical interpretation of Dercum’s disease (adiposis dolorosa). Endocrinology 1924, 8:51-60.
• [52]Winkelman N, Eckel JL: Adiposis dolorosa (Dercum’s disease): a clinicopathologcal study. JAMA 1925, 85:1935-1939.
• [53]Steiger WA, Litvin H, Lasche EM, Durant TM: Adiposis dolorsa (Dercum’s disease). N Engl J Med 1952, 247:393-396.
• [54]Pimenta WP, Paula FJ, Dick-de-Paula I, Piccinato CE, Monteiro CM, Brandao-Neto J, Kettelhut IC, Foss MC: Hormonal and metabolic study of a case of adiposis dolorosa (Dercum’s disease). Braz J Med Biol Res 1992, 25:889-893.
• [55]Palmer ED: Dercum’s disease: adiposis dolorosa. Am Fam Physician 1981, 24:155-157.
• [56]Taniguchi A, Okuda H, Mishima Y, Nagata I, Oseko F, Hara M, Otsu A, Kataoka K, Kono T, Imura H: A case of adiposis dolorosa: lipid metabolism and hormone secretion. Int J Obes 1986, 10:277-281.
• [57]Dalziel K: The nervous system and adipose tissue. Clin Dermatol 1989, 7:62-77.
• [58]Furlan AD, Lui PW, Mailis A: Chemical sympathectomy for neuropathic pain: does it work? Case report and systematic literature review. Clin J Pain 2001, 17:327-336.
• [59]Ochoa JL: Truths, errors, and lies around "reflex sympathetic dystrophy" and "complex regional pain syndrome". J Neurol 1999, 246:875-879.
• [60]Skagen K, Petersen P, Kastrup J, Norgaard T: The regulation of subcutaneous blood flow in patient with Dercum’s disease. Acta Derm Venereol 1986, 66:337-339.
• [61]Mella BA: Adiposis dolorosa. Univ Mich Med Cent J 1967, 33:79-81.
• [62]Fagher B, Monti M, Nilsson-Ehle P, Akesson B: Fat-cell heat production, adipose tissue fatty acids, lipoprotein lipase activity and plasma lipoproteins in adiposis dolorosa. Clin Sci (Lond) 1991, 81:793-798.
• [63]Greenbaum SS, Varga J: Corticosteroid-induced juxta-articular adiposis dolorosa. Arch Dermatol 1991, 127:231-233.
• [64]Herbst KL, Coviello AD, Chang A, Boyle DL: Lipomatosis-associated inflammation and excess collagen may contribute to lower relative resting energy expenditure in women with adiposis dolorosa. Int J Obes (Lond) 2009, 33:1031-1038.
• [65]Kirpila J, Ripatti N: Adiposis dolorosa juxta-articularis: Dercum’s disease & its therapy. Nord Med 1958, 59:358-360.
• [66]Campen RB, Sang CN, Duncan LM: Case records of the Massachusetts General Hospital. Case 25–2006. A 41-year-old woman with painful subcutaneous nodules. N Engl J Med 2006, 355:714-722.
• [67]Amine B, Leguilchard F, Benhamou CL: Dercum’s disease (adiposis dolorosa): a new case-report. Joint Bone Spine 2004, 71:147-149.
• [68]Nahir AM, Schapira D, Scharf Y: Juxta-articular adiposis dolorosa–a neglected disease. Isr J Med Sci 1983, 19:858-859.
• [69]Hall JH, Walbrach CE: Adiposis dolorosa with report of three cases. Am J Med Sci 1904, 128:218-322.
• [70]Hansson E: Liposuction in Dercum’s disease: clinical studies regarding Dercum’s disease and the effect of liposuction. 2011.
• [71]Mease PJ: Fibromyalgia: key clinical domains, comorbidities, assessment and treatment. CNS Spectr 2009, 14:6-9. discussion 12–14
• [72]Fonder MA, Loveless JW, Lazarus GS: Lipedema, a frequently unrecognized problem. J Am Acad Dermatol 2007, 57:S1-S3.
• [73]Warren Peled A, Slavin S, Brorson H: Long-term outcomes after surgical treatment of lipedema. Ann Plast Surg 2012, 68:303-307.
• [74]Pongratz G, Ehrenstein B, Hartung W, Scholmerich J, Fleck M: A patient with Pfeifer-Weber-Christian disease–successful therapy with cyclosporin A: case report. BMC Musculoskelet Disord 2010, 11:18. BioMed Central Full Text
• [75]Rubin E, Faber JL, Jorum E: Pathology. 1999.
• [76]Orstavik K, Norheim I, Jorum E: Pain and small-fiber neuropathy in patients with hypothyroidism. Neurology 2006, 67:786-791.
• [77]Garg A: Lipodystrophies. Am J Med 2000, 108:143-152.
• [78]Garg A, Agarwal AK: Lipodystrophies: disorders of adipose tissue biology. Biochim Biophys Acta 2009, 1791:507-513.
• [79]Bair MJ, Robinson RL, Katon W, Kroenke K: Depression and pain comorbidity: a literature review. Arch Intern Med 2003, 163:2433-2445.
• [80]Robinson MJ, Edwards SE, Iyengar S, Bymaster F, Clark M, Katon W: Depression and pain. Front Biosci 2009, 14:5031-5051.
• [81]Veger HT, Ravensbergen NJ, Ottenhof A, da Costa SA: Familial multiple lipomatosis: a case report. Acta Chir Belg 2010, 110:98-100.
• [82]Gamez J, Playan A, Andreu AL, Bruno C, Navarro C, Cervera C, Arbos MA, Schwartz S, Enriquez JA, Montoya J: Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. Neurology 1998, 51:258-260.
• [83]Ferner RE: The neurofibromatoses. Pract Neurol 2010, 10:82-93.
• [84]Mentzel T: Cutaneous lipomatous neoplasms. Semin Diagn Pathol 2001, 18:250-257.
• [85]Marini F, Falchetti A, Del Monte F, Carbonell Sala S, Gozzini A, Luzi E, Brandi ML: Multiple endocrine neoplasia type 1. Orphanet J Rare Dis 2006, 1:38. BioMed Central Full Text
• [86]Kobayashi J, Nagao M, Miyamoto K, Matsubara S: MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. Intern Med 2010, 49:479-482.
• [87]Campen R, Mankin H, Louis DN, Hirano M, Maccollin M: Familial occurrence of adiposis dolorosa. J Am Acad Dermatol 2001, 44:132-136.
• [88]Lynch HT, Harlan WL: Hereditary factors in adiposis dolorosa (Dercum’s disease). Am J Hum Genet 1963, 15:184-190.
• [89]Cantu JM, Ruiz-Barquin E, Jimenez M, Castillo L, Macotela-Ruiz E: Autosomal dominant inheritance in adiposis dolorosa (Dercum’s disease). Humangenetik 1973, 18:89-91.
• [90]Devillers AC, Oranje AP: Treatment of pain in adiposis dolorosa (Dercum’s disease) with intravenous lidocaine: a case report with a 10-year follow-up. Clin Exp Dermatol 1999, 24:240-241.
• [91]Held JL, Andrew JA, Kohn SR: Surgical amelioration of Dercum’s disease: a report and review. J Dermatol Surg Oncol 1989, 15:1294-1296.
• [92]Atkinson RL: Intravenous lidocaine for the treatment of intractable pain of adiposis dolorosa. Int J Obes 1982, 6:351-357.
• [93]Brodovsky S, Westreich M, Leibowitz A, Schwartz Y: Adiposis dolorosa (Dercum’s disease): 10-year follow-up. Ann Plast Surg 1994, 33:664-668.
• [94]Chopra A, Walia P, Chopra D, Jassal : Adiposis dolorosa. Indian J Dermatol Venerol Leprol 2000, 66:101-102.
• [95]De Silva M, Earley MJ: Liposuction in the treatment of juxta-articular adiposis dolorosa. Ann Rheum Dis 1990, 49:403-404.
• [96]George R, Poonnoose P, Isaiah R: Dercum’s disease (Adiposis dolorosa): delayed diagnosis in a patient with cervical cancer. J Palliat Care 2004, 20:324-325.
• [97]Juhlin L: Long-standing pain relief of adiposis dolorosa (Dercum’s disease) after intravenous infusion of lidocaine. J Am Acad Dermatol 1986, 15:383-385.
• [98]Scheinberg MA, Diniz R, Diamant J: Improvement of juxtaarticular adiposis dolorosa by fat suction. Arthritis Rheum 1987, 30:1436-1437.
• [99]Boller R: Die Novocainbehandling des morbus Dercum. Klinische Wochenschrift 1934, 13:1786-1789.
• [100]Desai MJ, Siriki R, Wang D: Treatment of Pain in Dercum’s Disease with Lidoderm (Lidocain 5% Patch): A case report. Pain Med 2008, 9:1224-1226.
• [101]Reggiani M, Errani A, Staffa M, Schianchi S: Is EMLA effective in Dercum’s disease? Acta Derm Venereol 1996, 76:170-171.
• [102]Petersen P, Kastrup J: Dercum’s disease (adiposis dolorosa). Treatment of the severe pain with intravenous lidocaine. Pain 1987, 28:77-80.
• [103]Singal A, Janiga JJ, Bossenbroek NM, Lim HW: Dercum’s disease (adiposis dolorosa): a report of improvement with infliximab and methotrexate. J Eur Acad Dermatol Venereol 2007, 21:717.
• [104]Scholz J, Abele A, Marian C, Haussler A, Herbert TA, Woolf CJ, Tegeder I: Low-dose methotrexate reduces peripheral nerve injury-evoked spinal microglial activation and neuropathic pain behavior in rats. Pain 2008, 138:130-142.
• [105]Moravan M, Segal BM: Treatment of CNS sarcoidosis with infliximab and mycophenolate mofetil. Neurology 2009, 72:337-340.
• [106]Gonciarz Z, Mazur W, Hartleb J, Machniak M, Bednarek I, Mazurek U, Wilczok T: Interferon alfa-2b induced long-term relief of pain in two patients with adiposis dolorosa and chronic hepatitis C. J Hepatol 1997, 27:1141.
• [107]Spota BB, Brage D: Cortisone therapy of Dercum’s disease. Dia Med 1952, 24:1930-1932.
• [108]Cross SA: Pathophysiology of Pain. Mayo Clin Proc 1994, 69:375-383.
• [109]Pardal Refoyo JL: Adiposis dolorosa (Dercum’s disease). An Otorrinolaringol Ibero Am 1996, 23:435-440.
• [110]Baron R: Neuropathic pain: a clinical perspective. Handb Exp Pharmacol 2009, 194:3-30.
• [111]Herbst KL, Rutledge T: Pilot study: rapidly cycling hypobaric pressure improves pain after 5 days in adiposis dolorosa. J Pain Res 2010, 3:147-153.
• [112]Singh J, Solomon D, Dougados M, Felson D, Hawker G, Katz P, Paulus H, Wallace C: Classification and Response Criteria Subcommittee of the Committee on Quality Measures. American College of Rheumatology. Development of classification and response criteria for rheumatic disease. Arthritis Rheum 2006, 55:348-352.
• [113]Wessely S, Nimnuan C, Sharpe M: Functional somatic syndromes: one or many? Lancet 1999, 354:936-939.
• [114]Sarzi-Puttini P, Atzeni F, Salaffi F, Cazzola M, Benucci M, Mease PJ: Multidisciplinary approach to fibromyalgia: what is the teaching? Best Pract Res Clin Rheumatol 2011, 25:311-319.