Lymphangioleiomyomatosis

Lymphangioleiomyomatosis, often shortened to LAM, is a rare and progressive systemic disease that destroys lung tissue through abnormal, smooth muscle-like cell growth, producing cysts that gradually replace healthy lung structure. It occurs from mutations in the TSC1 or TSC2 genes, either as an inherited germline mutation linked to tuberous sclerosis complex or as a sporadic somatic mutation, and it overwhelmingly affects women, typically first appearing in their early to mid thirties. Roughly half of patients first present with exertional shortness of breath and the other half with a spontaneous collapsed lung, alongside fatigue, cough and chest pain; kidney tumors called angiomyolipomas accompany the disease in about 30 percent of sporadic cases and up to 90 percent of cases tied to tuberous sclerosis. Diagnosis is frequently delayed five to six years because the condition is often mistaken at first for asthma or chronic obstructive pulmonary disease.