Multiple symmetric lipomatosis

Multiple symmetric lipomatosis (MSL), also known as Madelung disease or Launois-Bensaude syndrome, is a rare disorder of fat metabolism characterized by the progressive, symmetric accumulation of non-encapsulated fatty masses (lipomas) around the neck, shoulders, upper arms, upper back, and trunk. These fatty deposits are typically painless but can become disfiguring and, when located in the neck region, may compress the airway, esophagus, or major blood vessels, leading to breathing difficulties, swallowing problems, or vascular complications. The condition predominantly affects middle-aged men, and there is a strong association with chronic alcohol use, though cases in non-drinkers have also been reported. MSL primarily affects the adipose tissue but can also be associated with metabolic abnormalities including dyslipidemia, glucose intolerance, insulin resistance, hyperuricemia, and liver disease. Peripheral neuropathy is a frequently observed complication, which may be related to alcohol use or to the underlying metabolic disturbance itself. Some cases have been linked to mitochondrial DNA mutations, particularly in the MT-TK gene encoding tRNA-Lys, suggesting a mitochondrial component in at least a subset of patients. There is no curative treatment for MSL. Management primarily involves surgical removal of lipomatous masses through conventional lipectomy or liposuction, though recurrence after surgery is common. Alcohol cessation is strongly recommended and may slow disease progression, although it does not typically lead to regression of existing fatty deposits. Weight management and treatment of associated metabolic conditions such as diabetes and dyslipidemia are important components of care. Monitoring for airway compromise and peripheral neuropathy is also essential in long-term follow-up.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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