Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome
May 2013
in “
Familial cancer
”
TLDR People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
The document reviewed the pulmonary manifestations of Birt-Hogg-Dubé syndrome (BHD), a genetic disorder caused by mutations in the FLCN gene, characterized by a high prevalence of lung cysts (89-90%) and spontaneous pneumothorax (24-29%). It emphasized the importance of genetic testing, high-resolution CT scans, and screening family members for early diagnosis and management. Management strategies included pleurodesis or surgery due to high recurrence rates of pneumothorax (70-75%). The document also recommended regular pulmonary function testing, vaccinations, and caution with air travel and diving, while calling for further research to understand the disease's natural history and develop biomarkers and therapeutic agents.
