First described in 1892 by the American neurologist Francis Xavier Dercum at Jefferson Medical College in Philadelphia, Pennsylvania, Dercum disease (adiposis dolorosa) is an unusual progressive syndrome of unknown etiology characterized by multiple painful lipomas (see image below) that arise in adult life, most often affecting obese postmenopausal women. [1]

Multiple painful lipomas. Courtesy of Waikato District Health Board and DermNet New Zealand (http://www.dermnetnz.org/assets/Uploads/dermal-infiltrative/w/dercum-1.jpg).

The onset of Dercum disease (adiposis dolorosa) is insidious, but it has been described in at least one patient as having occurred after puerperal weight gain. [2] The pain is out of proportion to the physical findings and is often described by patients as "painful fat.” The pain increases with increases in fatty tissue and in connection with menstruation. Estrogen replacement at menopause has not been shown to reduce the pain.

Since the original description of Dercum disease (adiposis dolorosa), the clinical spectrum has changed to include, in addition to the painful nodular fatty deposits (which are often unaffected by weight loss), other components of Dercum disease (adiposis dolorosa) to various degrees. [3] General obesity, easy fatigability and weakness (asthenia), and a wide variety of unexplained emotional disturbances, such as depression, confusion, and dementia, are reported. This observation is why Dercum disease (adiposis dolorosa) has been proposed to be relabeled as Dercum syndrome. [4]

Dercum disease (adiposis dolorosa) has been classified by the World Health Organization (WHO) as a distinct entity. The National Organization of Rare Diseases (NORD) notes, "Dercum Disease is a rare disorder in which there are fatty deposits which apply pressure to the nerves, resulting in weakness and pain. Various areas of the body may swell for no apparent reason. The swelling may disappear without treatment, leaving hardened tissue or pendulous skin folds."

Criteria for diagnosis

In 1901, Roux and Vitaut first proposed the following four cardinal symptoms of Dercum disease (adiposis dolorosa), and these remain the standard for diagnosis of classic disease [5, 6, 7] :

Multiple, painful, fatty masses

Generalized obesity, usually in menopausal age

Asthenia

Neuropsychiatric disturbances, including emotional instability, depression, epilepsy, confusion, and dementia

As early as 1910, Stern noted that neuropsychiatric disturbances and asthenia did not accompany every case, and numerous case reports were subsequently described without all four cardinal features. [8] Therefore, some have lobbied for a “minimal definition” of adiposis dolorosa, which was recently proposed to include the following [9] :

Generalized obesity

Chronic pain (>3 mo) in the adipose tissue

Associated conditions

Associated conditions include sleep disturbances and pickwickian syndrome; slight-to-moderate dryness of the eyes and the mouth, with a gritty feeling in the eyes in spite of normal tear production (the criteria for Sjögren syndrome are not completely satisfied); an irritable bowel; coccygodynia; vulvovaginitis; vulvodynia; carpal tunnel syndrome; Tietze syndrome; chondromalacia patellae; thyroid malfunction, mainly hypothyreosis; trochanteritis; localized tendonitis; and onset of fibromyalgia (sometimes). [10, 11]

Mode of inheritance

Dercum disease (adiposis dolorosa) is believed to be transmitted in an autosomal dominant manner with incomplete penetrance [12, 13] ; it is particularly strong in the line of great grandmother-mother-daughter; however, most reported cases of adiposis dolorosa appear to be sporadic. [14]