Background: Birt-Hogg-Dubé syndrome (BHD) is an inherited disease caused by pathogenic variants in the FLCN gene. One of the characteristics is the increased risk for spontaneous pneumothorax, likely due to the presence of pulmonary cysts mainly distributed under the carina. Due to variable expression and lack of awareness, BHD is likely to be underdiagnosed. We aimed to examine the prevalence of BHD in patients presenting with an apparent primary spontaneous pneumothorax and to evaluate the contribution of chest CT in establishing the diagnosis.

Methods: Patients who presented with apparent primary spontaneous pneumothorax between 2004 and 2017 in a large Dutch teaching hospital were enrolled in this quantitative cross-sectional study. A questionnaire was sent to eligible patients. Patients who completed the questionnaire and consented to further participation were invited to visit the hospital for genetic testing and low dose, volumetric chest CT.

Results: Genetic testing was performed in 88 patients with apparent primary spontaneous pneumothorax. Three patients were found to have a pathogenic variant in the FLCN gene (3.4%). No variants of unknown significance were detected. Pulmonary cysts were detected in 14 out of 83 participants with an available chest CT, six had more than one cyst. All three patients with BHD had multiple pulmonary cysts.

Conclusions: Based on previous literature and the present study, we believe that performing a chest CT in every patient presenting with primary spontaneous pneumothorax is justified. Subsequent genetic testing of the FLCN gene should be considered when multiple pulmonary cysts are present.

Trial Registration: The study was registered at clinicaltrials.gov with reference NCT02916992. Three out of 88 patients with an apparent primary spontaneous pneumothorax were diagnosed with Birt-Hogg-Dubé syndrome in this study and all three had multiple pulmonary cysts. We believe that performing a chest CT in every patient with an apparent primary spontaneous pneumothorax is justified to identify underlying diseases.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9414409PMC
http://dx.doi.org/10.1186/s12890-022-02107-7DOI Listing

Publication Analysis

Top Keywords

spontaneous pneumothorax
32
primary spontaneous
28
apparent primary
24
pulmonary cysts
16
birt-hogg-dubé syndrome
12
genetic testing
12
three patients
12
multiple pulmonary
12
spontaneous
8
pneumothorax
8

Similar Publications

Characteristics and outcomes of patients with LAM receiving sirolimus in France based on real-life data.

Front Med (Lausanne)

January 2025

Department of Respiratory Medicine, Reference Centre for Rare Pulmonary Diseases, APHP, Hôpital Avicenne, INSERM U 1272, Université Sorbonne Paris-Nord, Bobigny, France.

LAM is a rare multi-cystic lung disease for which treatment with sirolimus is indicated in cases of moderate or severe lung disease or declining lung function. The aim of this study was to describe patients treated with sirolimus for LAM and their outcomes. This retrospective observational study was based on data from the French national health insurance data system (SNDS).

View Article and Find Full Text PDF

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genetic disorder. This case report aims to increase awareness of pulmonary cystic lesions and BHDS in China by providing insights into the clinical features of this syndrome. We present two cases of BHDS from the same family.

View Article and Find Full Text PDF

Background: Bedside thoracic ultrasound (US) offers numerous advantages over chest X-ray (CXR) for identification of recurrent pneumothoraces (PTX) after tube thoracostomy (TT) removal. Technologic advancements have led to the development of hand-held devices capable of producing high-quality images termed ultra-portable US (UPUS). We hypothesized that UPUS would be as successful as CXR in detecting post-TT removal PTX and would be preferred by patients.

View Article and Find Full Text PDF

Background: Iatrogenic pneumothorax is a common complication of diagnostic and therapeutic pulmonary procedures. New guidelines on primary spontaneous pneumothorax suggest ambulatory approaches may be suitable. However, guidance on iatrogenic pneumothorax occurring in patients with impaired lung function, increased age, comorbidity and frailty is lacking, and the safety profile of ambulatory management is not known.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!