Dercum’s disease (DD), also known as adiposis dolorosa, is a disorder of the adipose (fat) tissue. The condition is characterized primarily by the gradual growth of multiple, painful fatty deposits, called lipomas, that form just beneath the skin. Because its symptoms often overlap with more common conditions, DD is frequently under-recognized, making a timely and accurate diagnosis challenging. Understanding the unique features of this disorder is key to effective management.
Defining Dercum’s Disease
Dercum’s disease is classified as a form of painful lipomatosis, involving the formation of multiple lipomas within the subcutaneous fat layer. It was first described in 1892 by American neurologist Francis Xavier Dercum, who coined the term adiposis dolorosa. Unlike the common lipoma, which is typically a single, soft, and painless lump of fat cells, the defining feature of DD is the presence of multiple lipomas that cause chronic, often debilitating pain.
The disorder affects the fat tissue and the surrounding connective tissue (fascia). The fatty tumors in DD are associated with pain that is often disproportionate to their size. This pain is persistent and resistant to conventional pain relief methods, greatly impairing daily functioning and quality of life.
Etiology and Proposed Risk Factors
The cause of Dercum’s disease remains unknown. Current scientific theories suggest the disease may arise from a combination of factors, including a possible defect in lipid metabolism, which affects how the body processes fat. Other hypotheses point toward dysregulation in the nervous system or the endocrine system.
Although most cases occur sporadically, familial occurrences suggest a potential genetic predisposition in some individuals. Trauma, inflammation, or autoimmune processes may also trigger the onset of the disease. DD most commonly presents in adults between the ages of 35 and 50, and it has a strong female predominance. The condition is also frequently associated with overweight or obesity, and sometimes with rapid weight gain.
Recognizing the Clinical Symptoms
The most prominent feature of Dercum’s disease is the chronic pain associated with the subcutaneous lipomas, which must last for a minimum of three months for diagnosis. This pain is often described as a constant aching, burning, or stabbing sensation. It can be accompanied by hyperalgesia, where even light touch or pressure is intensely painful. The severity of this pain often drives individuals to seek medical attention.
The distribution of the painful lipomas is used to classify the disease into four types:
- Generalized diffuse form: Painful adipose tissue is widespread without distinct, palpable lipomas.
- Generalized nodular form: Involves diffuse pain along with intense pain in and around multiple clear lipomas.
- Localized nodular form: Pain is restricted only to the areas immediately surrounding the lipomas.
- Juxta-articular form: Involves solitary, painful fat deposits located near large joints.
Common locations for the lipomas include the trunk, abdomen, upper arms, and thighs.
Individuals with DD frequently experience non-lipoma-related symptoms. Chronic fatigue and generalized weakness (asthenia) are commonly reported, impacting daily energy levels. Many patients also struggle with neurocognitive symptoms, often called “brain fog,” involving difficulty with concentration and memory impairment. Associated symptoms include easy bruising, sleep disturbances, and psychological distress such as anxiety and depression, often secondary to chronic pain.
The Diagnostic Process
Diagnosis of Dercum’s disease is challenging because there is no specific laboratory test or biological marker to confirm the condition. It is a clinical diagnosis made by evaluating the patient’s symptoms and presentation, and through a process of exclusion. Clinicians often require the presence of generalized overweight or obesity coupled with chronic pain in the adipose tissue.
A comprehensive physical examination is required to identify the characteristic painful, multiple subcutaneous lipomas. Imaging techniques, such as magnetic resonance imaging (MRI) or ultrasound, may be utilized to confirm the fatty composition of the growths and rule out malignancies like liposarcoma. The process relies heavily on differential diagnosis, meaning the physician must systematically rule out other conditions that present similarly.
Conditions such as lipedema, fibromyalgia, and multiple symmetric lipomatosis (Madelung’s disease) must be carefully excluded. Lipedema, for example, typically involves fat accumulation in the legs and is associated with a lower average daily pain score compared to DD.
Current Treatment Approaches
Management of Dercum’s disease is palliative, focusing on easing symptoms and improving quality of life, as there is no known cure. The primary goal is to manage the chronic, often intense pain that characterizes the disorder. Pharmacological strategies often include nerve-calming medications, such as gabapentinoids like pregabalin, to address the neuropathic component of the pain.
Traditional analgesics, including non-steroidal anti-inflammatory drugs (NSAIDs), are often ineffective. Localized treatments, such as topical lidocaine patches, can be applied directly over the most painful lipomas and may provide significant pain reduction. Intravenous lidocaine infusions have also been reported to provide temporary pain relief lasting anywhere from hours to months.
For highly painful or strategically located lipomas, surgical intervention may be considered. Excision (surgical removal) or liposuction can reduce the size and pressure of the fatty deposits, potentially alleviating pain, especially in the localized nodular and juxta-articular forms. These procedures are not curative, and lipomas can recur. Supportive care, including manual lymphatic drainage, physical therapy, and psychological support, forms a comprehensive treatment plan.