Multiple symmetric lipomatosis: an updated clinical report.

Abstract

A systematic survey of 19 male patients with multiple symmetric lipomatosis (MSL) gives evidence for newly delineated and clinically relevant features of the disease. Signs and symptoms of a hitherto unrecognized severe peripheral and autonomic neuropathy were observed in all patients. A mediastinal location of lipomatous tissue was identified by computed tomography in five patients, with clinical evidence of a space-occupying syndrome in four of them. A further deep location of lipomatous tissue below the trapezius muscle, independent of the involvement of the overlying subcutaneous adipose tissue, was demonstrated in seven patients. Alcohol-related abnormalities in liver function tests were present in 10 of 19 patients. The disease is characterized by peculiar metabolic abnormalities, such as marked increase in adipose tissue lipoprotein lipase activity, a plasma hyperalphalipoproteinemia and a specific defect of the adrenergic-stimulated lipolysis in lipomatous tissue. Finally, a red blood cell macrocytosis or overt macrocytic anemia and abnormalities in liver function tests were found in MSL patients, related to elevated alcohol intake. An 8-year follow-up of nine MSL patients demonstrated that peripheral neuropathies and space-occupying mediastinal syndromes represent the most incapacitating, sometimes rapidly progressive, complication of MSL.