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Lymphangioleiomyomatosis (LAM) is characterized by cystic lung changes, enlargement of the abdominal and pelvic lymphatics and angiomyolipomas. It occurs in isolation (sporadic LAM), and in patients with tuberous sclerosis complex (TSC). Sporadic LAM occurs only in women with a prevalence of approximately 1/1,000,000; in TSC, up to 40% of adult women have evidence of LAM. The disease causes progressive respiratory failure punctuated by recurrent pneumothorax and chylous effusions with a mean survival of 10-20 years. Mutations in the TSC-2 gene have been demonstrated in the lungs, lymph nodes and angiomyolipomas of women with sporadic and TSC-associated LAM. However, it is not known if TSC-2 mutations are present in all women with LAM; other mechanisms may exist. Diagnosis is made by a combined computed tomography (CT) and biopsy. Treatment is mainly supportive, but in those with poor or rapidly declining lung function, hormonal manipulation either with progesterone or estrogen depletion may be tried. Lung transplant may become necessary. |