EXTRATHORACIC ANGIOMYOLIPOMAS IN LYMPHANGIOLEIOMYOMATOSIS

Pulmonary lymphangioleiomyomatosis (LAM) is a rare disorder that affec ts women and can lead to serious respiratory impairment, Since Bournev ille's tuberous sclerosis (TS) was first reported, the striking simila rities between the two entities have led many to believe that LAM is a forme fruste of TS. This is suggested by reports that angiomyolipomas , rare tumours in themselves, are reported in 40-80% of TS patients an d occur in 15-30% of LAM patients, A retrospective chart review was co nducted of 14 patients that presented to our institution with a diagno sis of LAM, We sought to document the clinical manifestations, particu larly the incidence and location of extrathoracic tumours, in order to further support the hypothesis that LAM is a forme fruste of TS. Twel ve patients had premenopausal onset of symptoms and two postmenopausal , The diagnosis was confirmed histologically (n=12) and/or by computed tomography (CT) scan of the thorax (n=12). Imaging investigations rev ealed extrathoracic tumours in 12 of 14 patients (86%). Eight of the 1 4 patients (57%) had renal tumours consistant with angiomyolipomas (bi lateral in five patients), Only one patient had renal symptoms (flank pain and haematuria), All had normal serum creatinine, one had a reduc ed creatinine clearance, Extrathoracic nonrenal tumours were discovere d in the pancreas, adrenals and uterus, findings previously unreported in LAM. In summary, the incidence of extrathoracic tumours in lymphan gioleiomyomatosis patients is much higher than previously reported in the literature, This increased association supports the theory that ly mphangioleiomyomatosis and tuberous sclerosis represent part of a spec trum of a similar disease process. (C)ERs Journals Ltd. 1996.