The prevalence of spontaneous pneumothorax in patients with BHD syndrome: a systematic review and meta-analysis
Abstract Background Birt-Hogg-Dubé (BHD) syndrome is associated with an increased risk of pneumothorax. This study aimed to determine the prevalence of spontaneous pneumothorax among individuals diagnosed with BHD syndrome. Method A comprehensive literature search was conducted across PubMed, EMBASE...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-05-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03726-z |
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| Summary: | Abstract Background Birt-Hogg-Dubé (BHD) syndrome is associated with an increased risk of pneumothorax. This study aimed to determine the prevalence of spontaneous pneumothorax among individuals diagnosed with BHD syndrome. Method A comprehensive literature search was conducted across PubMed, EMBASE, Cochrane Controlled Register of Trials (CENTRAL), and Web of Science databases up to March 10, 2024. Studies reporting on the prevalence of spontaneous pneumothorax in BHD syndrome patients were included. Eligibility assessment, data extraction, and quality assessment were performed independently by two reviewers. Random-effects or fixed-effect models were conducted to calculate pooled incidence rates, and subgroup analyses were performed to explore sources of heterogeneity. The publication bias was assessed by funnel plot and Egger's test. Results Eighteen studies, conducted between 2009 and 2023, were included in the systematic review. The meta-analysis revealed a pooled incidence rate of spontaneous pneumothorax in BHD syndrome patients at 0.61 (95% CI 0.46; 0.76). Subgroup analyses based on region, study design, and diagnostic methods further elucidated variations in incidence rates among different patient groups. Specifically, the Asian subgroup demonstrated a higher pooled incidence rate of 0.71 (95% CI 0.60; 0.81), while the Caucasian subgroup showed a lower pooled incidence rate of 0.43 (95% CI 0.26; 0.60). The subgroup analysis by study design revealed a pooled incidence rate of 0.60 (95% CI 0.45; 0.76) for retrospective studies and 0.70 (95% CI 0.42; 0.98) for the sole prospective study. Additionally, the subgroup analysis by diagnostic methods showed pooled incidence rates of 0.64 (95% CI 0.48; 0.81) for studies using FLCN mutation testing and 0.51 (95% CI 0.33; 0.70) for those using clinical criteria and imaging findings. Potential publication bias was identified by Egger's test (P < 0.05). Conclusion The study indicated a pooled prevalence rate of 61% for pneumothorax in BHD syndrome patients, with subgroup analyses revealing higher rates among Asian individuals and in prospective studies. Further researches, particularly large-sample prospective studies, are needed to address publication bias and improve the reliability of prevalence estimates. PROSPERO: CRD42024567520. |
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| ISSN: | 1750-1172 |