What is dercum’s disease?

Dercum’s disease, also referred to as adiposis dolorosa in the medical literature, is classified as a rare disorder due to its low prevalence and complex clinical features. In addition to adiposis dolorosa, Dercum’s disease has been described by various medical synonyms, including lipomatosis dolorosa, fatty tissue rheumatism, and Ander syndrome, amongst many others.¹ Because of Dercum’s unclear origin of cause, it is also referred to as Dercum’s syndrome, and is classified by the WHO in the ICD-10 under ‘lipomatosis not elsewhere classified’ (IV-E88.2), since, due to its low prevalence, the disease doesn’t have its own unique tag. Unfortunately, the disease’s rarity and diversity of symptoms presented by patients often lead to misdiagnosis or delayed diagnosis¹ 

The nature of the symptoms of Dercum’s disease, the quality of life of patients (HRQoL) are heavily influenced. Whilst it is complicated to evaluate the HRQoL and functional impact of a patient due to the concept being subjective, certain studies have provided an insight into an improvement in the patient’s quality of life after undergoing liposuction to combat obesity, a commonly associated feature of Dercum’s disease.² Although it is understood that Dercum’s is 

characterised by the development of painful adipose lumps, and despite it first being described in the 19th century, there is still very limited understanding about its origin.¹ As it is considered to be a heterogeneous disease, with the expression of its symptoms varying between patients,³ a review is necessary to help establish the different ways to combat the disease and help improve the patient’s quality of life. 

Clinical symptoms of dercum’s disease 

Dercum’s disease typically presents in adults, most commonly between the ages of 35-50 years, and predominantly affects caucasian women.³ The disease presents with intense, chronic burning lasting longer than 3 months and searing pain occurring within the adipose tissue, also known as body fat, found under the skin (subcutaneous fat), between the internal organs (visceral fat), and in the inner cavities of the bones. This pain is often associated with adipose lumps present within the subcutaneous tissue, which are small and difficult to detect. If present in the nodular form, the lumps can grow quite large. Despite the presence of these lumps, the skin over the affected area appears normal, with the lumps being soft and well-defined, with no changed pigmentation or skin damage. These presentations highlight the typical features of Dercum’s disease.¹ It is important to note that multiple forms of lipomas can be present in a patient with Dercum’s disease: 

• Generalised diffuse form: pain in the adipose tissue is spread across the body without clear lipomas 
• Generalised nodular form: pain occurs in both the adipose tissue and around the multiple lipomas 
• Localised nodular form: patients experience pain both in and around multiple lipomas 
• Juxta-articular form: one or more lipomas are localised to a specific area of the adipose tissue

Subcutaneous lipomas can grow anywhere on the body, more commonly in areas such as the legs, arms, and trunk. The face, scalp, and neck are less commonly affected but have a possibility of developing lipomas.¹ In addition to the subcutaneous lipoma formation, three other cardinal symptoms of Dercum’s disease have been proposed:

• Generalised obesity 
• Weakness and fatigue (asthenia) accompanying obesity 
• psychiatric manifestations

Theoretical causes of dercum’s disease 

Whilst the actual cause of Dercum’s disease is still unknown, multiple theories about its cause have been proposed. 

Nervous system dysfunction 

It has been suggested that the sympathetic nerves present within the autonomic nervous system can inflict pain through abnormal signals if surrounding nerves are damaged. In such a scenario, sympathectomy can be conducted on the damaged neuronal structures to relieve neuropathic pain.⁴ The formation of the abnormal signals occurs via the connection between the autonomic nervous system and the peripheral nerves, which in turn transmits a pain signal down the spinal cord. However, in cases where no neuronal damage is present, the sense of pain relief can be considered a placebo effect.⁴ Patients exhibiting Dercum’s disease are believed to have increased sympathetic activity induced by pain; this is supported by a study suggesting that patients with Dercum’s disease don’t present with a normal vasoconstrictor response during the lowering of the arms or legs. A normalised vasoconstrictor response can be induced by injecting lidocaine in patients, helping decrease the pain by lowering the sympathetic activity.⁴ 

Adipose tissue dysfunction 

This is a defect in the metabolism of lipids; investigations conducted on the synthesis of fatty acids in two patients with Dercum’s disease indicated a deficit in the formation of monounsaturated fatty acids in affected adipose tissue, whilst in the unaffected adipose tissue, no abnormalities were discovered. This indicated that the levels of this specific type of fatty acids were significantly higher in patients with Dercum’s disease.⁴ 

Additionally, a study establishing a relationship between corticosteroids and Dercum’s disease showed the presence of symptoms when a patient was treated with corticosteroids, with the symptoms being resolved when the medication levels were reduced.⁴ 

Inflammation 

Whilst inflammation is thought to be a cause of developing Dercum’s disease, laboratory inflammation markers can appear within normal levels in the condition.⁴ However, some studies did present increased inflammation marker levels. About 38% of the patients exhibited elevated marker levels and also presented with autoimmune diseases such as lupus and rheumatoid arthritis. 

Dercum’s disease diagnosis 

The diagnostic criteria for Dercum’s disease include: 

• Generalised overweight / obesity 
• Chronic pain that lasts more than 3 months 

Diagnosing Dercum’s disease can only be done once the differential diagnosis has been excluded. Patients with generalised overweight or obesity predominantly in their lower body can only be diagnosed with lipoedema. However, if the presentation of isolated painful lipomas is noted, then the patient can be diagnosed with nodular Dercum’s disease.⁴

Medication for dercum’s disease 

Analgesics

Whilst analgesics and non-steroidal anti-inflammatory drugs (NSAIDs) don't typically work for the pain in Dercum’s disease, certain studies have reported that 89% of patients treated with NSAIDs and 97% of patients treated with narcotic analgesics felt a decrease in the pain they experienced.⁴ 

Lidocaine

Studies indicate that topical application via lidocaine patches and intravenous administration of Lidocaine decrease the levels of pain experienced by the patients.⁴ Although the mechanism through which lidocaine reduces pain in Dercum’s disease is still unclear, there are a few propositions that can be considered. Whilst it was considered that Lidocaine can depress cerebral activity, leading to an increase in pain threshold, an EEG conducted during the administration of intravenous lidocaine suggested that the pain relief 

experienced by the patient was because of Lidocaine’s ability to block impulses being conducted in the peripheral nerves and hence prevent abnormal nerve impulses from occurring.⁴ 

Corticosteroids 

Reports of some improvement felt by patients when treated with systemic corticosteroids were documented, whilst a few did experience worsening of the chronic pain. A study providing insight into two patients with juxta-articular Dercum’s disease being treated with methylprednisolone injections directly into the lesions reported a significant improvement in their chronic pain.⁴ Even though the pathway of action of corticosteroids in reducing pain is not greatly understood, a theory that has been proposed suggests that corticosteroids inhibit the effects of inflammatory mediators such as histamine, prostaglandins, and bradykinins. As there has been no scientific research solidifying the relationship between inflammation and developing Dercum’s disease, the improvement felt by the patients could most likely be due to other effects of corticosteroids rather than an anti-inflammatory effect.⁴ 

Calcium channel modulators 

These prevent neuronal calcium channels from becoming activated and, in turn, prevent the release of excitatory amino acids, which are essential in causing the central nervous system to become hypersensitive, intensifying pain signals, and causing chronic pain. Hence, due to their inhibition properties, they are used for the treatment of neuropathic pain.⁴ 

Surgical treatments

Liposuction, lipoma resection, and lipectomy

These procedures have been reported to be effective only in the short term for Dercum’s disease. This procedure relieves pain through disestablishing abnormal nerve connections between the peripheral nervous system and the sensory nerves. However, even though the clinical significance of pain relief from such treatments remains unclear.⁵ The mechanism of action allowing pain relief is thought to be through liposuction, destroying the nerve networks in the adipose tissue; however, it is very unlikely that this alone is capable of explaining the pain reduction.⁴ Additionally, a lipectomy had been conducted in certain cases, and studies showed that although the treatment was effective, the pain had returned in most cases.⁴ 

Electrocutaneous stimulation 

A study conducted noted that a patient with Dercum’s disease improved after undergoing a frequency rhythmic electrical modulation system (FREMS) treatment. The patient had undergone four cycles of 30-minute sessions for 6 months and had exhibited lower pain levels, decreasing from 6.4 to 1.7 on the visual analogue pain scale (VAS), as well as presenting an increase in their efficiency and performance of daily activities, demonstrating an improvement in their functional independence and the quality of life.⁵ 

Summary

As Decrum’s disease (adiposis dolorosa) is a rare heterogeneous disease, it presents with various symptoms, differing between patients, hence making it difficult to detect on time. As the origin and cause of the disease, as well as the mechanism of action, are unknown, it is difficult to form an accurate conclusion on the best treatment option. However, through research that has been conducted on the disease, a few treatment options have been identified, and although surgical and pharmacological treatments (medications) do exist to help decrease the chronic pain of patients,⁴ the best treatment for patients would be undergoing electrocutaneous stimulation.⁵ It has reduced chronic pain associated with Dercum’s disease and also improved the quality of life of patients suffering from Dercum’s disease.