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Lymphangioleiomyomatosis

Lymphangioleiomyomatosis is a rare lung disease most commonly affecting women of childbearing age, which occurs sporadically or associated with tuberous sclerosis complex. Pathological findings are interstitial proliferation of abnormal smooth muscle, which ob­structs lymphatics and causes multiple thin-walled pulmonary cysts.

Patients with lymphangioleiomyomatosis present with progressive dyspnoea, recurrent pneumothoraces, chylous collections, or haem­optysis. Extrapulmonary masses may also be found. Elevated serum vascular endothelial growth factor-D levels have been demonstrated in this condition. Lymphangioleiomyomatosis is thought to be ac­celerated by oestrogen and is believed to progress during pregnancy. However, successful pregnancies have been reported in women with mild disease. Treatment is usually supportive with oxygen, manage­ment of airflow obstruction, and treatment of pneumothorax if it occurs. Recently, genetic findings have suggested a benefit of mech­anistic target of rapamycin inhibitors such as sirolimus.

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Source: Arulkumaran S., Ledger W., Denny L., Doumouchtsis S. (eds.). Oxford Textbook of Obstetrics and Gynaecology. Oxford University Press,2020. — 928 p.. 2020
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