Adiposis dolorosa is a disorder of unknown etiology found in obese individuals. The condition is defined by the presence of numerous painful lipomas, along with a range of other symptoms. There is usually no familial pattern of inheritance.
Adiposis dolorosa (AD) is a disease that usually affects women, but has also been observed in men [1] [2]. It rarely occurs in children. It is frequently reported in peri-menopausal women, although 35-50 years is the age range often stated in literature [3]. AD presents with generalized obesity, as well as numerous, painful lipomas which vary in size, primarily affecting the torso and extremities, although there is no involvement of the hands. AD does not affect the face.
Other commonly associated symptoms are fatigue, weakness, chronic pain, thinning pubic hair, and various gastrointestinal problems. Pain is progressive, increases with body mass index (BMI), and may be severe enough to limit mobility and disrupt daily activity [1] [2]. It may also be experienced as tenderness on palpation or as transient episodes, and is affected by changes in weather and temperature [4].
Patients may present with easy bruising, angiolipomas, menstrual changes, bleeding diatheses, migraines, joint pain or stiffness, and myalgias. More general symptoms such as non-pitting edema, dyspnea, tachycardia and fatigue have been reported [2]. Memory impairment, difficulties in thought processes, sleep derangements, depression, anxiety, and other psychiatric disorders can occur.
AD may be classified into Type I, with widespread distribution of painful fat tissue without recognizable lipomas (generalized diffuse form); Type II, with pain in both diffuse adipose tissue and in localized lipomas (generalized nodular form); Type III, with pain in numerous lipomas (localized nodular form); and type IV, with singular fat accumulations near the joints (juxta-articular form) [5]. There are cases of a familial form of AD, with an autosomal dominant pattern of inheritance [5]. The particular gene mutation has not yet been discovered.
Proposed precipitating factors are prolonged high dose steroid use, trauma, endocrine or adipose tissue abnormalities, as well as autoimmune conditions [5] [6].
The confirmation of adiposis dolorosa is based on certain diagnostic criteria, with minimum requirements of being obese or overweight, and experiencing chronic pain in fat tissue for 3 or more months [5]. Physical exam is adequate for making a diagnosis. Dissection of resected masses can further solidify the diagnosis [7]. Reaching the correct diagnosis may be challenging due to varying presentations.
Imaging techniques, including ultrasound and magnetic resonance imaging (MRI), can be used non-invasively to ensure that the masses are lipomas [8] [9] [10]. Laboratory tests may be carried out to exclude any suspected endocrine disorders such as thyroid or adrenal disease. High erythrocyte sedimentation rate (ESR), alpha-1 antitrypsin, haptoglobin, and complement levels may be noted [11].