Dercum’s Disease – A Mimic of Fibromyalgia

Authors: Gihyun Myung, M.D., and Meike A. Fang, M.D.

Case Report

A 40-year-old Caucasian male with a history of depression, alcohol abuse, and traumatic splenectomy to the Rheumatology Clinic for management of chronic body pain that started about 12 years ago. He reported having sharp, intermittent shoulder, finger, knee, and hip pain not alleviated by acetaminophen, thermal modalities, or physical therapy. He also noted numbness and tingling of his left arm and left leg. He was prescribed amitriptyline and bupropion for depression; these medications did not alleviate his pain. The patient was previously told he had psychosomatic pain by a neurologist.

His vital signs were normal, and he weighed 149 lbs with a BMI of 22.0. His physical examination was remarkable for multiple small nodules on the trunk and extremities and tenderness in the right supraspinatus and right trapezius muscles as well as the bilateral C7 region. Neurological examination was normal. Laboratory evaluation including Westergren erythrocyte sedimentation rate, C-reactive protein, thyroid function tests, antinuclear antibody, and rheumatoid factor were unremarkable. The initial impression was that the patient had fibromyalgia, peripheral neuropathy, or a chronic pain syndrome. Amitriptyline was switched to nortriptyline, and an electromyogram and nerve conduction study of the left arm and left leg were performed and were normal.

At his follow-up visit to the Rheumatology Clinic three months later, the patient reported that he developed multiple lumps in his trunk and extremities about 10 years ago, which were painful to touch. He reported prior biopsy of one of the nodules revealed “fatty tumor”. Repeat examination was notable for mobile, soft tender nodules on the trunk, bilateral arms extending from the antecubital fossa up to axillae and bilateral thighs. MRI of the right thigh showed tiny subcutaneous soft tissue nodular densities in the anterior medial proximal thigh.

His clinical presentation raised the possibility of Dercum’s disease, so he was referred to a physician who specialized adipose tissue disorders. She confirmed that he had Dercum’s disease type 3 and prescribed a diet high in omega-3 fatty acids and recommended analgesics such as gabapentin, pregabalin, or meloxicam.

Discussion

Dercum’s disease (DD), also called adiposa dolorosa, is a rare condition characterized by painful subcutaneous lipomas. There are three types of DD: Type 1 involves joints, classically the knees; Type 2 is diffuse and generalized; Type 3 is nodular, which causes intense pain around multiple “lipomas”.

The pain is chronic (>3 months), symmetrical, often disabling. Even though prevalence is not known yet, DD is five to thirty times more common in women than in men. It most commonly occurs in peri- and post-menopausal women between the ages of 40 and 60 years and is characterized by lipomas involving the trunk and extremities. The presence of pain, which is required for diagnosis, is most commonly described as a burning or aching sensation. Usually, patients complain of pain that appears out of proportion to physical findings, but pain can range from hyperalgesia, discomfort on palpation, to paroxysmal attacks of pain. Even though obesity has been related with DD, it has been reported that people with normal weight can also have DD.

In addition to pain, there are reported associations with weakness, depression, confusion, lethargy, and dementia. The majority of the cases of DD occur sporadically, but some suggest DD might be an autosomal dominant disorder with variable expression. The differential diagnoses of multiple lipomas include fibromyalgia, benign symmetric lipomatosis, neurofibromatosis Type 1 (NF1), diffuse lipomas, familiar multiple lipomatosis, panniculitis, and congenital lipomatosis. It is important to note that DD is a clinical diagnosis and a diagnosis of exclusion.

The exact etiology of DD is unknown. Some early reported cases suggested treating thyroid disorders decreased pain raising the possibility that thyroid dysfunction is associated with DD. However, DD generally continues to progress even if thyroid replacement treatment is started, and recent studies have not revealed any endocrine laboratory abnormalities in patients with DD.

Helpful imaging modalities include ultrasound and MRI. Power Doppler reveals superficial subcutaneous lesions and absence of surrounding edema or increased vascularity. Compared to lipomas, DD nodules are smaller (mostly <2cm) and more hyperechoic. On MRI, lipomas generate high signal intensities on both T1- and T2-weighted images without enhancement after gadolinium injection. Ill-defined nodular/blush-lesions sometimes may be seen on unenhanced MRI. MRI provides accurate information regarding the relationship of the DD lesions to the surrounding tendons, bones, and joints and detects lesions that are not clinically obvious or symptomatic. Unlike lipomas, which can occur anywhere in the subcutaneous fat, DD lesions are located in the superficial subcutaneous fat.

DD does not have defining histological features; the biopsy of lipomas in DD is histologically identical to sporadic lipomas. Other studies have reported inflammatory changes and angiolipoma-like features. The cause of the pain in DD is unclear, but it may be due to pressure on nerves by the lipomas or increased vascularity, fibroblast proliferation, and fat cell necrosis around the nerve.

There are standard recommendations that could be tried. Unfortunately, non-steroidal, anti-inflammatory drugs have little for no effect. Intravenous lidocaine (400 mg over 15 mins every other day) or daily oral mexiletine have shown to provide pain relief. However, the provider should consider drug-drug interactions with concomitant medications and potential side effects when prescribing these medications. If these medications do not adequately provide pain relief, pregabalin, amitriptyline, or SSRIs could be tried.

Another class of medications that has been suggested is corticosteroids, typically oral prednisone. A single female patient’s pain was improved with Infliximab and methotrexate, and two patients with chronic hepatitis C were successfully treated with interferon alpha-2B. Non-pharmacologic approaches such as exercise, cognitive behavioral therapy, hypnosis, biofeedback, relaxation, transcutaneous electrical nerve stimulation, and distractions can be used as adjuncts to pharmacologic therapy. Liposuction can be also tried and is considered similar in efficacy compared to the surgical excision of the lipomas.

Conclusion

DD is a rare condition and a diagnosis of exclusion. Although it is more common in obese women of middle age, it can occur in males and those who have normal BMI. Due to overlapping symptoms, DD is commonly mistaken for fibromyalgia. It is important to distinguish DD from fibromyalgia since management differs. Fibromyalgia is a condition with widespread muscle pain and a painful response to pressure. Even though distinguishing features between fibromyalgia and DD can be very subtle, DD is suspected if patient has the multiple painful nodules in subcutaneous tissue. Because pharmacotherapy alone is often unsuccessful, it is important to have a multidisciplinary approach encompassing medication, surgery, and mental health.

http://www.med.ucla.edu/modules/xfsection/article.php?articleid=872

*Case reports are generally considered a type of anecdotal evidence. Given their intrinsic methodological limitations, including lack of statistical sampling, case reports are placed at the foot of the hierarchy of clinical evidence, together with case series. https://en.wikipedia.org/wiki/Case_report

Ketamine Infusions (case study)

Ketamine infusion for refractory pain in Dercum’s Disease (Adiposis dolorosa): a novel treatment approach.

Dercum’s disease (Adiposis dolorosa) is a rare disorder characterized by multiple, tender subcutaneous nodules on the trunk and extremities. There is a higher incidence in obese, postmenopausal women. The exact mechanism is unknown, but it is hypothesized to be due to abnormal blood flow or circulatory dysfunction. Treatment is extremely challenging and is often times resistant to numerous modalities. We present the case of a 47 year-old female with a 2-year history of Dercum’s disease. The patient had seen numerous physicians and tried multiple treatment modalities, all with little success. After initial consultation, the decision was made to proceed with 2 four-hour trials of IV Ketamine infusions in the ICU. Patient reported approximately 60% relief of her pain immediately after her infusions and states that the relief lasted through her follow up four weeks later. Dercum’s disease remains a devastating diagnosis for many patients. It is extremely challenging to treat and has a significant adverse effect on patients’ quality of life. Ketamine infusions should be considered after conservative methods of treatment have failed and prior to proceeding to invasive treatment solutions such as liposuction.

http://www.jpain.org/article/S1526-5900(15)00367-3/abstract

*Case reports are generally considered a type of anecdotal evidence. Given their intrinsic methodological limitations, including lack of statistical sampling, case reports are placed at the foot of the hierarchy of clinical evidence, together with case series. https://en.wikipedia.org/wiki/Case_report

Liposuction (a literature review)

In dercum’s disease, Hansson et al. suggested liposuction may alleviate pain; however, it was difficult to determine whether this was due to the actual surgery or to other factors, according to EL-Khatib. De Silva and Earley used liposuction in two dercum’s patients and recommended the treatment as it had a low morbidity and was well-tolerated in elderly patients.

Treatment of this condition is usually targeted on pain relief rather than lipoma removal. El-Khatib reported a lack of scientific data for treatment or prevention of dercum’s disease.

http://www.parjournal.net/text.asp?2015/2/1/1/149362

http://www.healio.com/aesthetics/liposuction-body-contouring/news/online/%7B0d084418-147f-4dc2-803c-8e60e7c8cd2c%7D/liposuction-shows-utility-for-multiple-systemic-lipomatosis-other-chronic-medical-conditions

 

 

Imaging findings of adiposis dolorosa vs. massive localized lymphedema

Imaging findings of adiposis dolorosa and massive localized lymphedema overlap, as do the symptoms and pathological features. Due to the mass-like engorgement of the soft tissues and pain, patients will often undergo imaging to exclude neoplasm or infection. Knowledge of these conditions and the characteristic imaging findings is important to prevent unnecessary biopsy and misdiagnosis.

http://link.springer.com/article/10.1007%2Fs00256-015-2114-8

 

Abnormal Lymphatic Phenotype

An abnormal lymphatic phenotype is associated with subcutaneous adipose tissue deposits in three women with Dercum’s disease.

Disclosure: Drs. Fife, Maus, Rasmussen and Sevick-Muraca are listed as inventors on patents related to near-infrared fluorescence lymphatic imaging. Drs. Rasmussen and Sevick-Muraca may receive financial benefit from NIRF Imaging, Inc. a UTHSCH start-up company seeking to commercialize the imaging technology.

Objective
Investigational, near-infrared fluorescence (NIRF) lymphatic imaging was used to assess lymphatic architecture and contractile function in participants diagnosed with Dercum’s disease, a rare, poorly understood disorder characterized by painful lipomas in subcutaneous adipose tissues.

Methods
After informed consent and as part of an FDA-approved feasibility study to evaluate lymphatics in diseases in which their contribution has been implicated, three women diagnosed with Dercum’s disease and four control subjects were imaged. Each participant received multiple intradermal and subcutaneous injections of indocyanine green (ICG, total dose ≤400 µg) in arms, legs, and/or trunk. Immediately after injection, ICG was taken up by the lymphatics and NIRF imaging was conducted.

Results
The lymphatics in the participants with Dercum’s disease were intact and dilated, yet sluggishly propelled lymph when compared to control lymphatics. Palpation of regions containing fluorescent lymphatic pathways revealed tender, fibrotic, tubular structures within the subcutaneous adipose tissue that were associated with painful nodules, and, in some cases, masses of fluorescent tissue indicating that some lipomas may represent tertiary lymphoid tissues.

Conclusions
These data support the hypothesis that Dercum’s disease may be a lymphovascular disorder and suggest a possible association between abnormal adipose tissue deposition and abnormal lymphatic structure and function.

http://onlinelibrary.wiley.com/doi/10.1002/oby.20836/abstract

*Case reports are generally considered a type of anecdotal evidence. Given their intrinsic methodological limitations, including lack of statistical sampling, case reports are placed at the foot of the hierarchy of clinical evidence, together with case series. https://en.wikipedia.org/wiki/Case_report

MRI and ultrasound appearances

Adiposis dolorosa (Dercum’s disease): MRI and ultrasound appearances
http://www.clinicalradiologyonline.net/article/PIIS0009926013001992/abstract

Nerve Compression

Pain & weakness from Dercum’s Disease (adiposis dolorosa) is  often attributed to lipomas (fatty deposits) applying pressure to nerves.  This explanation is included in many definitions of the disease [1,2,3].  This theory has not been confirmed histopathologically in patients with Dercum’s Disease[4]. However, nerve compression secondary to adjacent lipomas is a recognized medical condition[5,6,7]. Most lipomas are asymptomatic, but they can cause pain when they compress nerves[8]. In fact, neuropathic pain related to subcutaneous lipoma without direct nerve compression is possible[9]. Lipomas exhibit a different cytokine profile than normal adipose, which may contribute to neural inflammation or microvascular changes[9].

1.http://misc.medscape.com/pi/android/medscapeapp/html/A1082083-business.html 
2.http://www.emergingworlds.com/ch_conditions_detail.cfm?vPageid=157 
3. http://www.genome.gov/17516629 
4.http://www.ojrd.com/content/pdf/1750-1172-7-23.pdf 
5.http://www.ncbi.nlm.nih.gov/pubmed/17320633 
6.http://www.med.nyu.edu/neurosurgery/pns/conditions/tumors/lipomas.html 
7.http://scholar.google.com/scholar?hl=en&q=lipoma+nerve+compression&btnG=&as_sdt=1%2C18&as_sdtp= 
8.http://www.patient.co.uk/doctor/Lipoma.htm
9. http://www.painmed.org/library/posters/poster-261/

Liposuction

Quality-of-life in patients with Dercum’s disease-before and after liposuction.

J Plast Surg Hand Surg. 2012 Sep;46(3-4):252-6

Authors: Hansson E, Manjer J, Svensson H, Brorson H

Dercum’s disease is characterised by obesity, pronounced pain in the adipose tissue, and a number of associated symptoms. Liposuction has been suggested as a treatment. However, the effect on quality-of-life after liposuction in Dercum’s disease has never been investigated. The objective of this study was to examine the quality-of-life in Dercum’s disease before and after liposuction. A total of 114 women fulfilling the clinical criteria of Dercum’s disease were included. Of the 114 women, 53 were operated on with liposuction and 61 were Dercum controls. In addition, 41 obese healthy women operated on with abdominoplasty were recruited as controls. Health-related quality-of-life (HRQoL) was measured with the Nottingham Health Profile (NHP) and the Psychological General Well-Being index (PGWB). The Dercum group had lower HRQoL than the abdominoplasty controls. After liposuction, a slight improvement could be seen in HRQoL in the operated patients compared with preoperatively, but it did not become as high as in the abdominoplasty patients. In conclusion, the findings could suggest that liposuction improves the quality-of-life slightly in Dercum’s disease. Nonetheless, the causality is unclear and the improvement is not big enough to warrant operation.

http://www.ncbi.nlm.nih.gov/pubmed/22909243?dopt=Abstract

Pelvic Lipomatosis

Pelvic lipomatosis is a rare disorder where fat tissue deposition is observed in spaces of the pelvic area, causing extrinsic compression of the bladder, rectum and blood vessels.

Pelvic lipomatosis might represent a variant of Dercum’s disease.

The clinical manifestations result from the extrinsic compression of the structures comprising the urinary system, the lower intestinal tract and the vascular system. Thus, the occurrence of dysuria, pollakiuria, nocturia, hematuria (less frequently), urgency, urinary incontinence and retention, besides repeated urological infections may be observed. Equally, constipation, tenesmus, diarrhea, lower limbs edema and thrombophlebitis, low back pain, suprapubic and perineal pain, painful ejaculation, epidydimitis and orchitis may be observed.

http://www.scielo.br/scielo.php?pid=S0100-39842012000300012&script=sci_arttext

Depression in Dercum’s disease and in obesity

A case control study

Emma HanssonHenry Svensson and Håkan Brorson

BMC Psychiatry 2012, 12:74 doi:10.1186/1471-244X-12-74

Published: 3 July 2012
Background

Dercum’s disease is characterised by pronounced pain in the adipose tissue and a number of associated symptoms. The condition is usually accompanied by generalised weight gain. Many of the associated symptoms could also be signs of depression. Depression in Dercum’s disease has been reported in case reports but has never been studied using an evidence-based methodology. The aim of this study was to examine the presence of depression in patients with Dercum’s disease compared to obese controls that do not experience any pain.

Patients with depression are often diagnosed with chronic pain conditions and vice versa. Both disorders activate common neurocircuitries, such as the hypothalamicpituitary-adrenal axis, limbic and paralimbic structures, ascending and descending pain
pathways, and mutual neurotransmitters, and it is therefore sometimes difficult to determine whether the pain disorder or the psychiatric condition is the primary diagnosis. Symptoms that could be attributed to depression have been described in patients in several reports to date.

Methods

A total of 111 women fulfilling the clinical criteria of Dercum’s disease were included. As controls, 40 obese healthy women were recruited. To measure depression, the Montgomery Asberg Depression Rating Scale (MADRS) was used.

Results

According to the total MADRS score, less than half of the patients were classified as having “no depression” (44%), the majority had “light” or “moderate depression” (55%) and one individual had “severe depression” in the Dercum group. In the control groups, the majority of the patients were classified as having “no depression” (85%) and a small number had “light depression” (15%). There was a statistically significant difference for the total MADRS score between the two groups (p=0.014).

Discussion

Dercum’s disease is characterised by obesity, chronic pain and other associated symptoms. Some of the associated symptoms, previously described in case reports on Dercum’s disease, include depression and symptoms associated with depression, such as asthenia, weakness, fatigue, emotional instability, mental confusion, dementia, poor sleep quality and changes in appetite. Several studies have demonstrated that there is a significant association between depression and pain, as well as between depression and obesity. Patients with depression are often diagnosed with chronic pain conditions and vice versa. Some studies have demonstrated that depression predicts obesity later in life, and other studies support that obese subjects develop depression to a greater extent than subjects with lower, “normal” body weights. Nonetheless, it is unclear whether there is a causal relationship between the three entities. The possible co-morbidity could be explained by Berkson’s bias, that is, patients with an illness might seek care more often. Thus co-morbidity could be overrepresented in a group of subjects that are, as in this study, recruited from a care setting.

In summary, it is difficult to separate chronic pain from depression. The elevated MADRS scores in the Dercum patients in this study cannot be explained by obesity alone, as the distribution of the Dercum subjects’ scores was different to that of the weight-matched control patients, and there was a statistical difference for the total score between the two groups. The lack of statistical difference for a number of the items could be explained by low power, that is, by the small number of subjects in the control group. The results suggested that the obese Dercum patients experience worse depression than obese healthy controls. As all of the Dercum patients had chronic pain whilst none of the controls had any history of chronic or present acute pain, it is unclear whether the depression is due to the Dercum’s disease per se or due to the experience of pain. Furthermore, it is unclear whether the depression or the Dercum’s disease came first. Previous research has shown that antidepressants have an effect on pain and the quality of life in patients with chronic pain and that obese patients could benefit from the treatment of
any co-existing features of depression.

An example of an associated symptom in Dercum’s disease that can also be explained by depression is poor sleep quality. Poor sleep quality can diminish an individual’s ability to cope with pain and stress and can influence the onset and course of disease. In fact, a
study on patients with chronic pain conditions demonstrated that sleeping less than 8 hours per 24 hours, especially in combination with poor sleep quality, might generate stronger reactions to pain. In addition, Affleck et al. concluded that there is a correlation between sleep quality and experienced pain intensity, as well as the ability to cope with pain, among patients with fibromyalgia. It can be speculated, therefore, that poor sleep can contribute to the onset of Dercum’s disease and the maintenance of pain. Conversely, obesity can also affect sleep quality. Obstructive sleep apnoea (OSA) and Pickwick syndrome, both of which have been previously described in Dercum’s disease, can be explained by obesity, as 50% of otherwise healthy obese women with BMI >40 have OSA and more than 29% of severely obese patients have nocturnal hypoventilation. This could explain why no difference can be seen between the Dercum patients and the control subjects in this study, as all of the subjects have similar BMIs.

Conclusion

The results indicate that the patients with Dercum’s disease are more likely to suffer from depression than controls. The relationship between Dercum’s disease, chronic pain, depression, and obesity is complex and it is not possible to separate depression and chronic pain completely. However, the results of this study indicate that patients with Dercum’s disease could suffer from worse depression than equally obese controls with no history of Dercum’s disease. This fact should be kept in mind when a treatment strategy for Dercum’s disease is selected.

Abstract: http://www.biomedcentral.com/1471-244X/12/74/abstract

Provisional PDF: http://www.biomedcentral.com/content/pdf/1471-244X-12-74.pdf

*Review*

Review of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management:  Up-to-date review of Dercums Disease research. 

http://www.ojrd.com/content/pdf/1750-1172-7-23.pdf

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