Dermatology

Adiposis Dolorosa (Dercum’s disease)

Adiposis dolorosa or Dercum’s Disease 272.8

Are You Confident of the Diagnosis?

Adiposis dolorosa, also known as Dercum’s disease, is characterized by painful lipomas that usually appear on the trunk and upper and lower proximal extremities. It is a rare disease more common in obese postmenopausal women. Chronic pain is the cardinal symptom and is characterized as aching burning and stabbing. The pain could be wide spread and not just involve the lipomas.

Three different types of adiposis dolorosa have been reported:

  1. Type 1. Juxtaarticular, around joints in the shoulders, knees and hips with painful folds. More common in females

  2. Type 2.Multiple lipomas associated with obesity in females.The most common type.

  3. Type 3. A few lipomas associated with an autosomal dominant inheritance. May occur in the absence of obesity

Patients report general fatigue, lack of sleep and headaches. Some patients report feeling hot; in rare cases adiposis dolorosa is associated with low-grade fever. Morning stiffness may occur. Emotional lability, irritability, depression and cognitive loss, such as loss of concentration and memory, have been reported in these patients. Swelling of various body areas have been reported. There is a tendency to bruise.

Characteristic findings on physical examination

On physical examination, patients have multiple tender and painful circumscribed lipomas mainly on the abdomen, buttocks, and upper and lower proximal extremities. They are sensitive to light pressure or touch (allodynia) in the areas surrounding the lipomas.

Expected results of diagnostic studies

There are no unique features that distinguish a lipoma of Dercum’s disease from other lipomas. The histologic appearances are similar with an encapsulated fatty deposit . Imaging by magnetic resonance imaging (MRI) and ultrasound may demonstrate lipomas.There aew no specific diagnostic lab tests.

Slightly elevated ESR and acute phase reactants have been reported. Cholesterol is elevated. Biochemical analysis of fatty acid in the lipomas of Dercum patients demonstrated higher rate of monounsaturated fatty acids than saturated ones in comparsion to healthy subjects with lipomas.

Diagnosis confirmation

The diagnosis of adiposis dolorosa is based on clinical history and the physical findings of lipomas and is made by exclusion . There is no current specific lab test.

The differential diagnosis of painful subcutaneous nodules in an obese female suspected with adiopsis dolorosa:

  • Angiolipoma

  • Glomus tumor

  • Leiomyoma

  • Neuroma

  • Neurofibroma

  • Liposarcoma

  • Cyst

  • Granular cell tumor

  • Panniculitis

Multiple lipomas can occur in other diseases, such as familial multiple lipomatosis and multiple symmetric lipomatosis ( Madelung`s disease). Both conditions are generally nonpainful and occur more in men. In multiple symmetric lipomatosis there is polyneuropathy, a history of excessive alcohol consumption and diabetes, and the head and neck and upper arms are involved.

A short list of syndromes with lipomas include :

  • Proteus syndrome, which involves partial gigantism of hands and feet and hemihypertrophy.

  • Cowden disease: trichilemmomas and multiple hamartomas and is associated with breast and thyroid carcinoma

  • Multiple endocrine neoplasia type 1: parathyroid, pancreatic and pituitary tumors

In a female patient who is obese with pain around joints and weakness, common diseases such as osteoarthritis and hypothyroidism should be ruled out.

Who is at risk for Developing Adiposis Dolorosa?

Adiposis dolorosa is 20 times more common in females. It usually appears in postmenopausal women aged around 45-60 years . There are reports of familial cases; type 3 of adiposis dolorosa is an autosomal dominant disease.

What is the Cause of Adiposis Dolorosa?

Pathophysiology

The pathophysiology of this rare disease is unknown. Recent studies suggest that the lipomatosis in this disease is inflammatory and involves elevated interleukin (IL)-6 and connective tissue was increased fourfold. A higher concentration of monounsaturated fatty acids was noted in the lipomas. The cause of the pain is unclear and it has been suggested to be due to pressure on nerves in the lipoma, but histologic findings do not show any neural damage or proliferation.

Systemic Implications and Complications

Patients have a multitude of systemic symptoms with variable incidence. The etiology of these symptoms and their association with the lipomas remains unclear. The most frequent: symptoms include:

  • Generalized fatigue with poor sleep, similar to chronic fatigue syndrome and fibromyalgia

  • Depression

  • Morning stifness

  • Finger swelling

  • Peripheral neuropathy related to median nerve compression with paresthesia of the hand

  • Pain unrelated to the lipomas with severe headaches, temporomnadibular joiint pain

  • Low-grade fever of unknown origin assocaited with worsening of pain

  • Infection sensitivity - pain exacerbates during infections or allergy attacks

  • Concentration and memory problems

  • Tendency for bruising with normal coagulation tests

  • Rare complications reported due to fatty tumor necrosis include septicemia and septic shock

The disease causes significant impairment in quality of life and incapacity to work as a consequence of the pain and suffering.

Treatment Options

Treatment of adiposis dolorosa is symptom specific and targeted towards pain relief . The current treatment regimens are unsatisfactory for altering the disease course and only provide symptom relief. General measures as weight reduction have limited effect.

Pharmacologic treatments

  • Intravenous lidocaine 400mg every other day provided pain relief for 10 hours to several months. Intralesional lidocaine with cortisone to the lipomas have been also used

  • Oral lidocaine mexilletine an antiarrythmic in a dose up to 900mg per day - monitoring ECG to rule out any arrythmia is required

  • Neuroleptics - in particular pregablin in doses up to 300mg per day

  • Tricyclic antidepressants, such as amitriptyline and nortiptyline

  • Selective serotonin noradrenaline reuptake inhbitors, such as duloxetine and venlafaxine and mirtazapine

  • A recent case report of use of infliximab and methotrexate demonstrated significant improvement, upon discontinuation of the drug the patient experienced recurrent lipoma pain.

  • Oral corticosteroids with prednisone 20mg per day reduced pain. Intralesional steroids with lidocaine has been helpful, in the author’s experience; however, there has been a report of a flare of the disease with the use of a high dose of corticosteroids.

  • Opioids have been used for pain reduction with limited value

  • Interferon alfa-2b 3 million units, 3 times per week for 6 months induced long-term relief for two patients who suffered from hepatitis C

  • Oral analgesics such as nonsterodial anti-infllammatory drugs do not seem to be of any help.

Topical treatments

  • Lidocaine 5% patch or EMLA cream

  • Topical casaicin 0.075% 3-4 times a day

Surgical treatments

  • Excision of extremly painful lipomas has been reported to ameliorate the pain.

  • Liposuction has provided temporal relief of pain. It is particular useful for localized disease for type 1 adiposis dolorosa with juxtaarticular involvement . Recurrences often develop.

Nonpharmacologic approaches may be used as an adjunctive therapies to reduce pain intensity

  • Transcutaneous electrical nerve stimulation

  • Acupuncture

  • Healing touch

  • Cognitive behavioral therapy

  • Relaxation techniques

  • Water aerobics

Optimal Therapeutic Approach for Adiposis Dolorosa

Adiposis dolorosa is a therapuetic challenge; the main focus of treatment is on reducing the pain and the other associated symptoms

Suggested treatment;

  1. Intralesional injection of 10-20mg kenalog with 2mg of lidocaine to painful lipomas

  2. Use of pregablin titrated gradually up to 300mg (divided by 150mg twice a day) with mirtazapine 15mg at night time

  3. Topical capsaicin 0.1% to the painful lipomas 4 times a day - can apply topical EMLA 30 minutes prior to capsaicin to reduce bruning sensations

  4. Tricyclic antidepressants : amitryptiline up to 125mg per day

  5. In localized forms with extreme pain an excsion of the lipoma is justified

  6. Adjunctive measures to reduce stress and pain and induce relaxation with a physical therapist, water aerobics and massage therapy

Patient Management

Adiposis dolorosa is a chronic progressive disorder that requires long-term follow-up. There are bouts of attacks that require more aggressive pain therapy.Patient education about the chronicity of this disease is of prime importance. Detailed information about aggravating and relieving factors should be provided.

Involvement of other medical care professionals may be called for, such as psychiatrists in bouts of depression, dieticans for weight reduction, and surgeons when a localized lipoma is botherosme Patient support groups can provide invalubale information to the patients and their families.

Unusual Clinical Scenarios to Consider in Patient Management

Due to the fact that adiposis dolorosa patients complain of multiple systemic symptoms, ranging from joint pains or low-grade fever to cognitive changes, an extensive work-up including many procedures is often perfotmed. Once the diagnosis is etsablished, it is important to inform the care takers to avoid unnecessary procedures, such as extensive surgical approaches, that may endanger an obese patient and will lead to complications, such as infections and worsening of this debilitating disease.

What is the Evidence?

Wortham, NC, Tomlinson, IP. "Dercum’s disease". Skinmed. vol. 4. 2005. pp. 157-62.

(A comprehensive review of diagnosis and management of adiposis dolorosa.)

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). vol. 33. 2009. pp. 1031-8.

(A recent study providing evidence that adiposis dolorosa is an inflammatory disease.)

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. vol. 21. 2007. pp. 717.

(A recent case report on the succesful use of a combination of anti TNF and Methotrexate for adiposis dolorosa.)

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. vol. 17;355. 2006. pp. 714-22.

(A well-written differential diagnosis of adiposis dolorosa and its management.)
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