Dercum Disease: What Is It, Causes, Symptoms, and More

What Is It, Causes, Symptoms, and More

Author: Nikol Natalia Armata, MD

Editor: Alyssa Haag

Editor: Józia McGowan, DO

Editor: Kelsey LaFayette, DNP

Illustrator: Jessica Reynolds, MS

Copyeditor: David G. Walker

Modified: Feb 02, 2024

What is Dercum disease?

Dercum disease, also known as adiposis dolorosa, refers to a rare condition of unknown etiology characterized by multiple painful fatty deposits under the skin. Most lesions are well-defined, around two centimeters in diameter, and grow superficially. These growths of fatty tissue may be identified throughout the body; however, they are most commonly found in the upper and lower extremities, the buttocks, as well as the trunk. The scalp, neck, and face are also common locations. These benign deposits of fat may vary in size and number. Therefore, the above characteristics are used in order to classify Dercum disease (e.g., generalized diffuse, generalized nodular, localized nodular). Dercum disease mostly affects adults, especially individuals assigned female at birth, between 35 and 50 years of age.

What causes Dercum disease?

The causes of Dercum disease remain unknown. Nonetheless, individuals assigned female at birth, especially after menopause, appear to be at an increased likelihood of having Dercum disease. Most cases reported are sporadic, meaning that the disease occurs via a new mutation and is not inherited from one’s parents. Some scientists have noted a familial clustering of Dercum disease in an autosomal dominant manner. Therefore, it is possible that different subtypes of the disease exist, some of which may be inherited.

What are the signs and symptoms of 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.

Other signs and symptoms that may be identified in individuals with Dercum disease are joint or muscular pain, shortness of breath, constipation, as well as tachycardia—especially in individuals with obesity due to the underlying pathology. It is worth mentioning that Dercum disease may also be located in the breasts; therefore, painful fatty deposits of the breast must be differentiated from other breast lumps, like infected cysts, fibrocystic breasts, or even breast cancer. However, it is important to note that cancerous lumps are typically non-painful.

How is Dercum disease diagnosed?

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.

How is Dercum disease treated?

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).

What are the most important facts to know about Dercum disease?

Dercum disease is a rare disorder of the subcutaneous adipose tissue that presents with multiple painful fatty masses throughout the body. These lipomas mainly occur on the trunk and extremities. The exact cause of Dercum disease remains unknown. Affected individuals usually experience severe pain, weight gain, depression, lethargy, and confusion. The diagnosis of Dercum disease is based on clinical examination, yet the condition can be further investigated with tissue biopsy and additional imaging, like ultrasound and MRI. As there is currently no known cure for Dercum disease, management involves addressing symptoms with oral analgesics, surgical removal, liposuction, or lidocaine injections.

Hansson E, Svensson H, Brorson H. Liposuction may reduce pain in Dercum’s disease (adiposis dolorosa). Pain Medicine. 2011;12(6):942-952. doi:10.1111/j.1526-4637.2011.01101.x

Ibarra M, Eekema A, Ussery C, Neuhardt D, Garby K, Herbst KL. Subcutaneous adipose tissue therapy reduces fat by dual X-ray absorptiometry scan and improves tissue structure by ultrasound in women with lipoedema and Dercum disease. Clinical Obesity. 2018;8(6):398-406. doi:10.1111/cob.12281

Kucharz EJ, Kopeć-Mędrek M, Kramza J, Chrzanowska M, Kotyla P. Dercum’s disease (adiposis dolorosa): a review of clinical presentation and management. Reumatologia. 2019;57(5):281-287. doi:10.5114/reum.2019.89521

Rasheed F. Dercums disease/adiposis dolorosa. Journal of Pigmentary Disorders. 2017;04(1). doi:10.4172/2376-0427.1000252

Wipf A, Lofgreen S, Miller DD, Farah RS. Novel use of deoxycholic acid for adiposis dolorosa (Dercum disease). Dermatologic Surgery. 2019;45(12):1718-1720. doi:10.1097/dss.0000000000001800

Dercum Disease

What Is It, Causes, Symptoms, and More

What is Dercum disease?

What causes Dercum disease?

What are the signs and symptoms of Dercum disease?

How is Dercum disease diagnosed?

How is Dercum disease treated?

What are the most important facts to know about Dercum disease?

References

Company

Support

For Institutions

More