Everolimus treatment of abdominal lymphangioleiomyoma in five women with sporadic lymphangioleiomyomatosis
Lymphangioleiomyomatosis (LAM) is a rare genetic disease affecting women of childbearing age. It may occur either as sporadic LAM (sLAM), or in association with tuberous sclerosis complex (TSC) (TSC–LAM).1 Although LAM is classically characterised by progressive, cystic destruction of the lung parenchyma, it also has extrapulmonary manifestations including chylous collections (in the abdomen and pleura), lymphadenopathy, benign tumours of the kidney (angiomyolipomas [AMLs]), and abdominopelvic cystic masses (lymphangioleiomyomas).1–4
In LAM, abnormal cells of smooth muscle lineage infiltrate the lungs and lymphatic system, and circulate through the blood.2 This has resulted in the characterisation of LAM as a benign metastatic tumour by some researchers. Accumulation of these cells in the lymphatic ducts results in obstruction and consequently chylous ascites and pleural effusions, and may also underlie the formation of lymphangioleiomyomas. The origin of the LAM cells is unknown. Predicting a prognosis for patients is difficult, but a 10-year survival from time of diagnosis has been estimated at about 80%–90%.