Dercum disease is a rare, chronic condition characterized by painful fatty growths that significantly impact quality of life. Its rarity and complex presentation pose unique challenges.
Understanding Dercum Disease
Dercum disease, also known as Adiposis dolorosa (ICD-10 code E88.2), is a rare disorder marked by multiple, painful lipomas. These benign fatty tumors develop beneath the skin, varying in size, number, and location across the body’s subcutaneous fat. While it can affect anyone, Dercum disease primarily impacts women, often presenting between 35 and 50 years of age. Cases have also been reported in children and other age groups. First described by American neurologist Francis Xavier Dercum in 1888, he initially termed it “adiposis dolorosa.”
Identifying the Symptoms
Painful lipomas are the primary symptom, manifesting as dull aches or sharp, debilitating pain often disproportionate to their size. These lipomas can appear anywhere on the body, though they are most common on the trunk, upper arms, and upper legs, with less frequent occurrences on the head, neck, hands, or feet. Pain results from lipomas pressing on nerves or inflammation in surrounding tissue.
Beyond painful fatty deposits, individuals often experience other symptoms. These include chronic fatigue, general weakness, and cognitive impairment (brain fog) affecting concentration and memory. Sleep disturbances, depression, and anxiety are common, often exacerbated by persistent pain. Other associated symptoms include joint stiffness, easy bruising, and headaches.
Exploring the Causes
The precise cause of Dercum disease remains unknown, leading it to be categorized as idiopathic. Despite this, several theories and contributing factors have been proposed by researchers. Some hypothesize a genetic predisposition, with reports of familial occurrences suggesting an autosomal dominant inheritance pattern in some cases.
Other theories point to metabolic dysfunction, endocrine imbalances, or issues within the lymphatic system. Trauma, such as an injury, has also been documented as a potential trigger in some instances. While obesity is frequently observed in individuals with Dercum disease, it is not considered a direct cause but rather a factor that can sometimes worsen symptoms.
Diagnosing the Condition
Diagnosis primarily relies on clinical assessment, including medical history and physical examination. Professionals look for multiple painful lipomas and often an overweight or obese state, though the latter is not always present. No specific laboratory tests or imaging studies definitively confirm Dercum disease.
However, imaging techniques like ultrasound or MRI may help rule out other conditions with similar symptoms (differential diagnosis). Conditions like lipoedema, panniculitis, Cushing syndrome, or familial multiple lipomatosis are carefully considered for accurate diagnosis. The absence of specific markers makes diagnosis challenging, emphasizing the need for a comprehensive clinical evaluation.
Managing Dercum Disease
As there is no cure, management focuses on alleviating symptoms and enhancing quality of life. Pain management is central, often involving combined approaches. Analgesics, including NSAIDs or stronger pain relievers, may be prescribed. Localized pain can be addressed with cortisone injections, nerve blocks, or lidocaine patches. Intravenous lidocaine infusions have also shown short-term pain relief, though long-term use carries risks.
Other therapeutic interventions include surgical removal of lipomas (lipectomy or liposuction) for specific, localized painful masses, but regrowth is common and it is not a cure. Weight management can be beneficial for overweight or obese individuals; physical therapy may also help with mobility and discomfort. Psychological support, such as counseling, is often integrated to address mental health challenges like depression and anxiety. A multidisciplinary approach, involving various specialists, is generally recommended for comprehensive care.