(10.05) Multiple Symmetric Lipomatosis in a Patient with Adiposity-Based Chronic Disease

Adiposity-based chronic disease is a public epidemic that endocrinologists manage on a routine basis. Although the most common reason for this condition is caloric excess, it is important to consider other etiologies of weight gain. This case describes a patient who presented for weight management. She continued to gain weight despite pharmacologic treatment and began developing compressive symptoms from a large neck mass. She was referred to a surgeon who diagnosed her with multiple symmetric lipomatosis. As a result of this diagnosis, she was scheduled to have surgery to remove these lipomas which will serve as definitive therapy.

Case(s) Description :

A 70 year old woman with a past medical history of bariatric surgery and alcohol use disorder presented for management of her elevated BMI and lipohypertrophy. Her BMI upon presentation was 52.3 kg/m².  Her exam was notable for large fat pads under her chin, upper chest, and upper extremities. An initial evaluation revealed normal thyroid function tests and a normal 24-hour urinary free cortisol. She was started on semaglutide 0.25 mg for weight loss. 

Three months later the patient only lost two pounds on the semaglutide. Additionally, she was started on positive airway pressure at night for sleep apnea. She continued to express tracheal compressive symptoms and was referred to plastic surgery for the removal of the neck mass. Upon evaluation from plastic surgery, she was diagnosed with multiple systemic lipomatosis and was scheduled for lipectomy.

Discussion :

Multiple symmetric lipomatosis (MSL, also known as Madelung’s disease) is a condition in which non-encapsulated lipomas grow on various parts of the body. There are two subtypes of MSL which are distinguished by the distribution of the masses. Type 1 typically presents with lipoma depositions in circumscribed masses around the neck and upper arms, and can extend into the mediastinum. Type 2 MSL has a more diffuse distribution and can commonly appear as obesity.  

Because of the size and location of the masses, a common clinical consequence of MSL is tracheal compression, as seen in this patient. In some cases, this condition can also cause vena cava compression. This condition is also associated with peripheral and autonomic neuropathies. The pathogenesis of MSL seems to be associated with brown adipose tissue metabolism, and several genetic mutations associated with brown adipose tissue metabolism have been identified in murine models. Another strong correlation is the presence of heavy alcohol use and MSL. Treatment of MSL includes alcohol withdrawal and ultimately surgical removal of these masses.