Introduction

First described over 130 years ago, Dercum’s disease remains one of medicine’s mysteries, a painful fat disorder still searching for answers.

First reported by Dr Francis X. Dercum in 1888, Dercum’s Disease (DD) or Adiposis Dolorosa is an elusive disease characterised by painful fatty deposits under the skin. From its discovery in the late nineteenth century to today, the exact cause of the disease is still debated.

This article sheds light on the current understanding of DD and how our knowledge has evolved, beginning with its classification as an endocrine-related disorder to today's multifactorial view, which combines adipose dysfunction, metabolism, and autonomic pain dysregulation in the nervous system. This article is to guide you through the history, break down the research and show you how far modern treatment has come.

By the end, you’ll know three key things:

• Dercum’s disease is not just “obesity with pain” but a distinct medical condition
• Scientific thinking has shifted over time, from a focus on glands and hormones to a multifactorial model
• Current treatments focus on managing symptoms and improving quality of life, though a cure remains elusive

What is Dercum's disease?

Dercum’s disease (DD) or adiposis dolorosa is a rare disorder characterized by the development of multiple, painful lipomas (benign fatty tumours) in the subcutaneous fat (fat beneath the skin).¹

• It usually affects adults, more commonly women, and is often associated with obesity, fatigue, weakness and movement problems
• The pain can range from mild tenderness to severe, disabling pain that interferes with daily life
• The exact cause is unknown, but researchers suspect abnormalities in fat metabolism, nervous system dysfunction, autoimmune activity, or a connective tissue disorder component

What is connective tissue?

Connective tissue is one of the four basic types of human tissue (along with epithelial, muscle, and nervous tissue). Its main role is to support, bind, and protect other tissues and organs. Examples include bone, cartilage, blood, adipose tissue and fibrous tissues.

Current treatment options for Dercum's disease

Unfortunately, there is no cure. Treatment focuses on symptom relief and improving quality of life:

• Pain management, through NSAIDs, Local anaesthetics or opioids in severe cases
• Surgical options, through liposuction or excision of deposits, can sometimes help, but the lipomas can grow back
• Other therapies such as lymphatic drainage, compression therapy, weight loss or physical therapy
• Supportive care through psychological support, since chronic pain often leads to depression/anxiety

How to differentiate between DD and other diseases?

Because painful fat lumps look like other fat or pain disorders, doctors have to be careful. Conditions like lipoedema, Madelung disease, fibromyalgia, etc, can all cause overlapping symptoms, but each has its own “signature.” For example, lipoedema usually affects the legs in a highly symmetrical manner and spares the feet, while Madelung disease causes large fat pads around the neck and shoulders. Fibromyalgia brings widespread pain but no actual fatty lumps, and panniculitis shows up as inflamed red nodules that can scar.^1,2,3,4,5

Historical evolution of Dercum's Disease

Origins and Eponym From Francis X. Dercum (1880-1900)

In the late 1800s, Francis X. Dercum was the first to report and describe a syndrome that was marked by painful adipose tissue deposits accompanied by symptoms of weakness, fatigue and neuropsychiatric features. At the time, doctors believed these symptoms may be related to thyroid disease, commonly known as myxoedema, but Dercum quickly realised that this was something different, and his description became the foundation for what we now know as DD.

He presented his findings in the University Medical Magazine at the University of Pennsylvania, describing a case study of a 51-year-old woman who developed painful lumps under skin, in the arm, shoulder and back areas, causing flare-ups of pain, difficulty with movement, fatigue, irritability and restlessness. Small tissue samples from her arms revealed immature connective tissue, which was unusual and differed from what you would expect in ordinary obesity or thyroid swelling.⁶

Later in 1892, he described three more cases. Here is the start of medical recognition for people living with the rare disease, and the first proposed name of the disease: "Adiposis Dolorosa".⁷

Early 20th-Century Views, Endocrine Scope (1900–1945)

The early 20th century brought competing ideas about DD, with many doctors focusing on the endocrine system. Back in 1923, Dr Bernard Myers made a striking discovery: when he treated a woman with pituitary extracts, her strength and energy bounced back — a breakthrough hint that hormones might hold the key to DD.⁸

His biopsies also showed scarring and inflamed blood vessels in the fatty lumps, hinting the disease was more than “just fat.” Around the same time, Stolkind and others reinforced this gland-based view through case studies and autopsies, noting pituitary overgrowths as well as ovarian and thyroid changes in women.⁹

In 1925, Winkleman and Eckel extended these findings, describing tumours in the pituitary, adrenal, and ovarian glands. Together, this led researchers at the time to conclude that the disease is not caused by a single faulty gland but by a combination of glands and their hormone systems, which they described as "periglandular", solidifying the belief of a fundamentally endocrine disease, even though treatments like hormone extracts, massage, and supportive therapies gave inconsistent results.¹⁰

Mid-Century, insight into inheritance(1945–1980)

Mid-century research into DD faced difficulties due to the rarity of cases and unclear diagnostic criteria. Much of the research surrounding the disease is limited to single case studies.

Despite these limitations, the understanding of the disease continued to evolve. By the 1950s, researchers investigated familial or hereditary patterns, broadening the mechanism beyond a single-gland explanation.

An important voice was Dr Henry T. Lynch, later world-famous for discovering Lynch Syndrome in hereditary cancer, who discussed inheritable factors of the disease.¹¹ He noted the striking predominance of cases with people assigned female at birth(five to six times more common than in AMAB) and described how the disease’s gene could express itself differently within the same family: Some relatives had the full symptoms, while others only had harmless fatty lumps without pain.¹² Without knowing the family history, doctors might mistake these milder cases for a different condition, like ordinary familial lipomas, rather than recognising them as part of DD.

Late 20th Century Reappraisal (1980–2000)

By the 1980s, interest in the disease was revived within the fields of pain medicine and plastic surgery.

By the end of the century, doctors started experimenting with local anaesthetic treatments to deal with the painful symptoms of Adiposis Dolorosa, with intravenous lidocaine and later on with oral sodium channel blockers like mexiletine, allowing for pain to be relieved temporarily or even up to weeks or months at a time.^13,14

Surgical interventions such as liposuction, where the removal of fatty lumps was found to be beneficial in diminishing pain and improving patients' function.¹⁵

Beyond treatment, our understanding of the disease improved with the use of newer and more precise imaging technology. Researchers described that patients with the disease presented with the following histological and metabolic markers.¹⁶

• Adipocyte hypertrophy: The fat cells (Adipocytes) were significantly larger in size in patients with DD than in obese controls
• Changes in fibrosis and connective tissues: Increased fibrous septa, i.e. increased scar-like tissue, between fat cells were present in DD patients, suggesting that the fat became stiff or structurally changed in comparison to control patients
• Reduced mitochondrial respiratory activity: A lowered oxygen consumption, hinting at the fat cells not working at their full power, leading to less generation of heat and energy compared to normal physiology
• Irregular lipolysis: Fat cells in DD patients didn't break down properly in response to regular metabolic signals such as catecholamine stimulation

These findings reinforce the idea that DD is not merely a form of obesity with pain, but a distinct disorder of the adipose tissue marked by structural changes, enlarged fat cells and irregular fat metabolism.

Modern Perspectives (2000–Today)

Modern research of the 21^st century has expanded its insights into multiple areas that DD may affect.

Some researchers now believe that the nervous system plays a key role in DD, describing how pain may not just come from the fatty lumps themselves, but also from tiny nerve fibres of the skin that are not functioning properly. This is known as small-fibre neuropathy. The additional symptoms of dizziness, fatigue or heart palpitations also point to problems with the autonomic nervous system.¹⁷ This puts emphasis on how nerves and fat tissue interact, which can explain why symptoms can be so widespread and difficult to treat.

Doctors today are also able to group DD into several subtypes, depending on location and pain.¹

• Generalised diffuse form: Pain is present throughout the fatty tissue of the body, but there are no obvious lumps
• Generalised nodular form: Pain is present throughout the fatty tissue of the body, but is increasingly painful in fatty lumps
• Localised nodular form: Pain is focused on areas where fatty lumps are present
• Juxta-articular form: Painful fat deposits build up around joints such as the knees

This classification helps doctors recognise that not all patients look the same, and it guides them toward more tailored care.

Summary

First described in 1888, Dercum’s disease is a rare disorder causing painful fat deposits. Once thought to be caused by hormonal or glandular abnormalities, research has evolved to suggest genetic factors, and by the late 20th century, studies have shown that abnormalities in fat tissues, whether metabolic or structural, are notable characteristics of DD. Today, it’s seen as a multifactorial condition involving fat metabolism, glandular dysregulations and small fibre neuropathy. While no cure exists, treatments focus on pain relief, surgery and supportive care, with the ongoing goal of making living with the disease as easy as possible.

FAQs

Is Dercum’s disease the same as lipoedema?

No. They can overlap, but Dercum’s centres on painful adipose tissue with tender nodules or diffuse pain; lipoedema has distinct distribution and features. 

Is there a definitive test to diagnose DD?

No. Diagnosis is clinical, meaning multiple tests must be done and other diseases must be ruled out. This is supported by imaging, biopsies and investigation into differential diagnosis. 

What treatments help the DD patients?

All treatment is specialised to the patient by their healthcare practitioner, and for now, focuses on relieving the adverse effects of the disease. Some options include pain management therapies such as NSAIDs or sodium channel blockers, while other treatments may take a surgical approach with the use of liposuction.

Is DD progressive?

Answer - The course of disease differs from one person to another, based on factors such as pre-existing and adjacent conditions. Some patients can experience chronic fluctuating pain, while others experience a uniformly progressive decline.

Are there any support lines/websites for DD patients?

Yes! Online platforms such as “The Dercum Society” and the “Mayo Clinic Connect” offer information about treatment routes and interactive blog/comment sections for those suffering from the disease, or check out some of our other articles on DD and its similar disorders!