Primary spontaneous pneumothorax remains a significant problem, with high recurrence rate between 25-54% despite different therapeutic approaches.An important autosomal dominantly inherited disorder, caused by pathogenic FLCN mutations and associated with lung cysts and (recurrent) spontaneous pneumothorax (SP) is the Birt-Hogg-Dubé (BHD) syndrome.Approximately 7.5-10% of all SP patients have a pathogenic FLCN mutation. Recurrence rate of SP among BHD patients has been described up to 75%.Optimal treatment of SP in BHD patients is unknown.
We collected data using a questionnaire, which was send to 53 patients with a proven pathogenic FLCN mutation with a history of SP.All patients had one or more episodes of spontaneous pneumothorax.We scored number of episodes, number of recurrences, type of treatment, classified in conservative (observations, needle aspiration or tube thoracostomy) or invasive (chemical - or mechanical pleurodesis, lung resection, bullectomy).Both lungs were scored separately.
We found among 53 FLCN mutation carriers with a mean age of 31.2 years a total of 77 episodes of spontaneous pneumothorax; 29 patients one-sided, 19 on both sides and 5 patients on both sides at the same time. In total 59% had one or more recurrent episodes of SP; 58% after conservative treatment and 29.4% after invasive treatment. We found in literature that approximately 15% of PSP patients have a history of SP on both sides and 1.5% on both sides at the same time.
Based on these results, we found a significant higher number of bilateral episodes of SP among BHD patients compared to PSP in literature. BHD patients might need a different approach of treatment of SP compared to non-BHD patients.
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