Dercum Disease

The most common symptom associated with Dercum disease is the pain of the adipose tissue growth, which may be either diffuse and difficult to pinpoint, or localized in areas where fat accumulates, like lipomas. The pain is often described as a burning sensation with a slow onset that can gradually worsen. It can last more than three months and even affect the individual's functionality. Other associated signs and symptoms include obesity, fatigue, and weakness. There are also psychiatric disturbances, including emotional instability, depression, anxiety, sleep disorders, epilepsy, confusion, and dementia. Some scientists suggest that the psychiatric manifestations present as a result of obesity and chronic pain syndrome as another association is not yet identified. 

The diagnosis of Dercum disease is based on a detailed medical history and clinical presentation. A physical examination and further imaging and testing can confirm the diagnosis after eliminating other possible diagnoses associated with lipomas. Physical exam and medical history from the individual will usually reveal painful lipomas or pain localized in the adipose tissue below the skin, especially in overweight individuals. No specific laboratory tests are associated with Dercum disease. 

Fibromyalgia has a very similar clinical presentation with fatigue and diffuse pain and tenderness throughout the body; therefore, it is considered one of the top differential diagnoses of Dercum disease. Dercum disease is typically differentiated from fibromyalgia by the presence of painful lipomas.

If the healthcare professional requires further testing to conclude a diagnosis, biopsies can be taken from the adipose tissue. Histopathological evaluation of the adipose tissue in Dercum disease is almost identical to a lipoma as it reveals fat tissue without any signs of inflammation or edema in the surrounding tissue. However, a higher level of connective tissue in fat compared to a regular lipoma has been described. Ultrasound and MRI confirm that the lesions are located in the superficial subcutaneous fat. All lesions are hyperechoic on the ultrasound, meaning that they present as brighter than the surrounding tissue, and have no additional circulation on Doppler imaging. MRI also has a characteristic pattern of presentation, with a decreased signal in T1 and an increased signal in water-sensitive sequences (i.e., STIR). As expected, imaging techniques tend to identify more lesions with the exact same characteristics as the ones identified through physical examination. 

The treatment of Dercum disease typically involves symptom management as there is currently no cure.  Non-invasive treatment options, like analgesics, are usually recommended in individuals with more generalized forms of Dercum disease. Paracetamol (i.e., acetaminophen), a non-opioid analgesic medication, can be used for mild to moderate pain. Even though Dercum disease appears to be resistant to non-steroidal anti-inflammatory drugs (NSAIDS) as no active inflammation is identified in the condition, some researchers report that they may also be effective in reducing pain. Pregabalin, typically used to treat neuropathic pain, has also been shown to be effective in managing Dercum disease. Recently, deoxycholic acid, an injectable medication, was suggested, which naturally breaks down and absorbs fat. This method seems to be highly effective in reducing existing lipomas, yet its effectiveness on Dercum disease needs further investigation. Another experimental treatment option that was reported to reduce symptoms is transcutaneous frequency rhythmic electrical stimulation of the fatty tissue, which seems to be effective and safe when applied to individuals with Dercum disease. 

The most predominant methods suggested by healthcare professionals are liposuction and topical lidocaine application in the sites of pain. Liposuction is the most common method of management proposed in the literature. Though liposuction is typically utilized for general removal of fat tissue, in the setting of Dercum disease, liposuction is used to target the lipomas. By reducing the fat deposits and destroying some nerve plexuses within the adipose tissue, pain relief can usually be achieved. Unfortunately, while the pain can be diminished for an extended period of time (i.e., about five years), after liposuction, it may reoccur. Additionally, surgical removal of the lipomas or large parts of the skin with subcutaneous fat has also been suggested. Lidocaine injection of lesions may also be effective for some individuals; however, it offers only short-term pain relief (i.e., from 2 to 12 months).