Dercums - characterised by an overgrowth of fatty tissue
Have you ever been curious about a clinical enigma? On this page, we explore an example of a clinical enigma called Dercum disease.
Dercums disease - also known in the literature as Adiposis Dolorosa - is a rare disease characterised by uncontrolled mature adult adipose tissue accumulations in various areas around the body, often localised and painful. The deposits can range in size, shape and placement; however, the aetiology is unknown. The initial description of the disease was made by Francis Xavier Dercum, an American neurologist working in Philadelphia who published two papers on the disease in 1888 and 1892. The disease is recognised by the World Health Organisation ICD-10 and is currently classified as lipomatosis. The disease has been found to mostly affect adults, most notably in ages 35+ and has been found to be more prevalent in men than women. Little ethnographic research has been conducted. However, the majority of reported cases review white people.
The causes of the disease remain poorly understood. However, studies have suggested that the disease occurs predominantly in postmenopausal individuals who identify as female. Research conveyed by Asare-Bediako and Hebst attests to the development of the disease occurring in four out of five individuals who identify as female patients prior to menopausal onset.1 This may suggest an endocrine affiliation with the disease. Additional hypotheses have emerged in literature implicating genetic, metabolic, viral and autoimmune etiologies as possible causes for the disease and its presentation.
Further, no conclusive evidence surrounding the incidence of Dercum’s disease has been found, however, many cases have been observed to be sporadic within the population. Campen et al. identified familial presentation of the disease.2 Whereby a family had at least five affected persons in two generations. This was thought to be indicative of a genetic component; henceforth, a genetics test was conducted. The outcome of the investigation suggested that the trait was autosomal dominant and that, in a broader sense, Dercum’s disease may be considered a form of lipomatosis.2 Additionally, Silvestri et al. found evidence that Dercum’s disease may be linked to MERRF, with further investigation being required.3 There have also been other suggestions that the disease may be the outcome of an immune defence reaction, which is evidenced by the presence of inflammatory cells in fatty tissues.4
Three types of Dercum’s disease have been identified:
Includes the presentation of painful folds of adipose tissue or fat on the inside of the knees and/or on the hips. In rare cases, this type is only identifiable on the upper arms.
This includes the presentation of fatty tissue in the dorsal upper arm, axillary and gluteal fat regions, the stomach wall, the soles of the feet, and the dorsal fat folds. This type also includes widespread pain from the formation of this fatty tissue. Note the generalised form is often broken up into two further types: Generalised nodular form and generalised diffuse form
- Generalised Nodular type: Includes the presentation of severe pain in and around multiple lipomas, sometimes in the absence of general obesity; presentations of lipomas include attachment to the surrounding tissue, 0.5-4 cm in length and softness.
- The generalised diffuse form is characterised by widespread pain from fatty tissue and the presence of palpable lumps, as well as the presence of pain in areas without detectable lumps
Localised nodular form:
This is characterised by the presence of painful lipomas in limited locations.
Further, Dercum’s disease tends to be biased toward obese patients. This is attributed to the expected increase in fatty tissue as observed in obesity. However, note that some cases of the disease have been observed in non-obese patients.
Signs and symptoms
The signs and symptoms range in severity and aggregability.
Key symptoms include:
- Fatty lipomas, often painful
- Lipomatosis dolorosa
- Adipose tissue rheumatism and fatty tissue rheumatism
- Neurofibromatosis and Ander syndrome
- Emotional instability
- Epilepsy, confusion, depression
- Aches at the joints
- Bruising easily
- Increased heart rate
- Shortness of breath
The pain experienced by patients with Dercum’s disease is chronic and disabling, increasingly limiting individuals' capacity for movement. The range of Dercum presentation is partially characterised by pain, which is dissipated differently, and the onset of painful symptoms is often slow.
The skin over the areas of fatty deposits remains seemingly normal, with no changes in skin pigmentation. Cantone et al. have shown Dercum disease to have significant neurological involvement, with depression and a reduction in cognitive abilities being present in some case studies.5 In nominal cases, severe outcomes such as septic shock and stereo-cutaneous necrosis have been observed.6
Management and treatment
Due to a lack of aetiology and pathological data surrounding the mechanisms and manifestations of Dercum’s, there is not one specific treatment that can be used to cure or treat the disease completely. Instead, treatments focus on targeting the symptoms experienced by the individual. Further, as the clinical manifestations range in severity and pathology type among those affected by the disease, treatments prescribed are specific to individual patient cases. Some of the treatments that have been used are shown below.
- CVAC sessions
- Methotrexate and infiximab
- Interferon α-2b
*Surgery has been found to be effective. Specifically liposuction in areas that limit mobility, such as around joints, to remove fatty tissue deposits. However, though effective in relieving pain, recurrence often occurs.
There is no specific tool used in the diagnosis process; however, MRIs and ultrasounds may be used to assist as they show the specific locations of the fatty deposits in the superficial subcutaneous fat. They also allow for the identification of more lesions than a physical examination that has been conducted, and this is because some lesions may not be visible on a surface level or on an easily observable area of the body. The main features used to identify the disease in patients are the presence of fatty subcutaneous deposits on and/or around the individual's anatomy as well as chronic (>3 months) pain and often obesity, though this is not always apparent. Additionally, a family history is often taken to identify potential disease inheritance.7 An exclusion of other potential causes and conditions through an investigation of the person's medical history and routine medical tests, i.e. blood test investigation, are necessary to attain a diagnosis.
Is it preventable?
Whilst there are significant strategies that are currently being used to address the symptoms of the disease, not enough is known about its origin or pathology to attain a specific cause for it. However, obesity has been linked.
Does it affect children?
Most cases of the disease have been found in individuals between the ages of 35 and 50. However, some (rare) cases of the disease have been found in children.
When should you visit a doctor?
When you are experiencing symptoms that are having a profound effect on your quality of life or ability to function.
Dercum disease is a complex disease requiring further investigation and research to attain its cause and most effective treatment plan. Despite little being known, there are currently a range of treatments being used to increase the quality of life of the individual affected and decrease pain. The disease is characterised by its ability to induce substantial pain as well as create widespread fatty deposits and lymphomas; these can sometimes be identified through physical examination or the diagnostic use of tools such as MRIs and ultrasounds for location and depth specificity.
- Herbst KL, Asare-Bediako S. Adiposis dolorosa is more than painful fat. The Endocrinologist. 2007 Nov 1;17(6):326-34.
- Campen R, Mankin H, Louis DN, Hirano M, MacCollin M. Familial occurrence of adiposis dolorosa. Journal of the American Academy of Dermatology. 2001 Jan 1;44(1):132-6.
- Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S. Clinical features associated with the A→ G transition at nucleotide 8344 of mtDNA (“MERRF mutation”). Neurology. 1993 Jun 1;43(6):1200-.
- Leĭtes SM, Davtian NK, Emanuél VI. Pathophysiological characteristics of adipose tissue in Dercum's syndrome. Patologicheskaia fiziologiia i eksperimental'naia terapiia. 1972;16(1):47-51.
- Cantone M, Lanza G, Pennisi M, Bella R, Schepis C, Siragusa M, Barone R, Ferri R. Prominent neurological involvement in Dercum disease. Journal of Neurology. 2017 Apr;264:796-8.
- Haddad D, Athmani B, Costa A, Cartier S. Maladie de Dercum: une complication grave au cours d'une maladie rare. À propos d'un cas. InAnnales de chirurgie plastique esthetique 2005 Jun 1 (Vol. 50, No. 3, pp. 247-250). Elsevier Masson.
- 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 Dec;7:1-5.