Lymphangioleiomyomatosis

Progressive shortness of breath, unexplained cough, recurrent pneumothorax (collapsed lung), or sudden chest pain are red flags. Even mild dyspnea on exertion warrants pulmonary function testing and high‑resolution CT imaging.

Diagnosis is usually made by characteristic high‑resolution CT findings (multiple thin‑walled cysts) plus an elevated serum VEGF‑D level (>800 pg/mL). When imaging and VEGF‑D are concordant, a biopsy is not needed.

The mTOR inhibitor sirolimus (rapamycin) is the first‑line treatment; it stabilizes lung function, reduces the size of angiomyolipomas, and lowers the risk of pneumothorax. Dose is individualized, and regular monitoring of blood levels and side effects is essential.

Pregnancy can be tolerated, but the risk of pneumothorax and rapid lung function decline is higher. Women should have a pre‑conception pulmonary assessment, close monitoring during pregnancy, and discuss the timing of sirolimus (which is typically held during pregnancy due to fetal risk). Multidisciplinary care with a pulmonologist, obstetrician, and neonatologist is recommended.