Since the effectiveness and rationale of using mTOR inhibitors in preventing cysts formation is still not verified, there is currently no specific treatment for BHD-associated cystic lung disease.
In the case of pneumothorax, BHDS management mainly consists of early pleurodesis. Besides, periodic renal imaging for tumor detection and genetic counselling for relatives of the index patient should be undertaken.
Specifically:
Skin lesions are usually removed surgically or by laser.
Pneumothorax occurs in more than 80% of patients and tends to recur. For this reason, it is advisable to perform pleurodesis already when the first emphysema is treated, which reduces the risk of recurrence from >60% with conservative treatment to about 30% after pleurodesis. Pleurodesis with additional lining of the visceral pleura with silicone mesh has a higher success rate. Complete coverage of the pleura is more effective than covering only the lower lung areas (recurrence rate of 0% versus 42% over 7 years of follow-up). It is important to inform patients about the risks and symptoms of pneumothorax and to recommend medical consultation if new respiratory symptoms appear.
BHDS patients have a greater than 5-7 fold increased risk of renal cell carcinoma under the age of 50, which is an indication for annual follow-up.
FLCN