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PubMed This is a summary of 59 peer-reviewed journal articles Updated
Pulmonology · Familial Spontaneous Pneumothorax and Birt-Hogg-Dubé Syndrome

Understanding Inherited Lung Collapse: FSP and Birt-Hogg-Dubé Syndrome

At a Glance

Familial Spontaneous Pneumothorax (FSP) refers to recurring lung collapses within a family, most commonly caused by Birt-Hogg-Dubé (BHD) syndrome. BHD is a genetic condition caused by an FLCN gene mutation that leads to lung cysts, an increased risk of kidney tumors, and skin bumps.

Experiencing a lung collapse is frightening, and having it happen more than once—or seeing it happen to your family members—can create a constant sense of “waiting for the other shoe to drop.” It is important to know that while a lung collapse is a medical emergency, the underlying cause is often a manageable genetic condition.

Recognizing a Collapse: When to Seek Help

Living with the fear of a recurrence can make you second-guess every twinge in your chest. A spontaneous lung collapse typically presents with specific hallmark symptoms:

  • Sudden, sharp chest pain that usually worsens when you take a deep breath.
  • Sudden shortness of breath or feeling like you cannot pull enough air into your lungs.

If you experience these symptoms, especially with a known family history of lung issues, do not wait to see if they pass—seek emergency medical evaluation immediately.

Understanding the Terms

When a lung collapses without an injury, it is called a spontaneous pneumothorax (an “air chest”) [1].

  • Familial Spontaneous Pneumothorax (FSP): This is the clinical term used when two or more close biological relatives experience a lung collapse [2][3]. It suggests that the cause isn’t just “bad luck” but is likely tied to a shared genetic trait [4].
  • Birt-Hogg-Dubé (BHD) Syndrome: This is a rare genetic condition caused by a change (mutation) in the FLCN gene [2]. BHD is the most common identified cause of FSP [2][5]. It causes thin-walled air sacs called cysts to form in the lungs, which can rupture and lead to a collapse [6][7].

The Prevalence of BHD

While BHD is considered a rare disease, it is much more common than once thought among people who experience lung collapses.

  • In patients who appear to have a “routine” first-time lung collapse, about 3.4% are found to actually have BHD [8].
  • In families where lung collapses are a recurring theme (FSP), the likelihood of BHD being the cause is significantly higher [2].
  • Because BHD is rare, many general doctors may treat the collapse (the “symptom”) without realizing there is a genetic “root” [9][4].

Three Stabilizing Facts

If you suspect you or your family may have BHD, these three facts can help ground your next steps:

  1. Cysts are common, but collapses are manageable. Approximately 61% of people with the BHD genetic mutation will experience a lung collapse at some point in their life [1]. While this sounds high, knowing the cause allows doctors to move from “emergency mode” to “preventative mode” [10].
  2. Specific patterns aid diagnosis. The lung cysts in BHD are unique. They are often numerous and tend to settle in the lower lobes of the lungs [11][12]. A specialist can use a high-resolution CT scan to look for this specific “signature” [13][14].
  3. Knowledge provides a “Roadmap” for safety. A BHD diagnosis changes how doctors treat you. For example, instead of waiting for a second or third collapse, experts often recommend a pleurodesis—a procedure that “tacks” the lung to the chest wall to prevent future collapses—much earlier than they would for the general population [10][15].

Why the Genetic Root Matters

Finding out if BHD is the cause of your FSP is about more than just your lungs. The FLCN gene also plays a role in the skin and kidneys.

  • The Kidneys: People with BHD have an increased risk of developing kidney tumors [16]. These tumors are usually slow-growing and very treatable if caught early through regular ultrasound or MRI monitoring [17][18].
  • The Skin: Some people (but not all) develop small, harmless, skin-colored bumps called fibrofolliculomas, usually on the face, neck, or ears [19][20].

By identifying the genetic cause, you move from a place of uncertainty to a place of proactive health management for yourself and your family [21][22].

Explore further:

01

The Biology of Lung Collapse: Genes and Structures

Learn the biology behind Familial Spontaneous Pneumothorax (FSP) and BHD syndrome. Understand how FLCN gene mutations, cysts, and blebs cause lung collapse.

02

Decoding Your Diagnosis: Imaging and Genetic Testing

Learn how to decode your Birt-Hogg-Dubé (BHD) syndrome diagnosis. Understand HRCT lung scans, FLCN genetic testing, and what your pathology reports mean.

03

Taking Action: Surgical Strategies and Precautions

Learn about surgical treatments for BHD and FSP lung collapses. Understand why VATS and pleurodesis are recommended over chest tubes to prevent recurrence.

04

Building Your Care Team and Lifelong Surveillance

Learn how to build your Birt-Hogg-Dubé (BHD) syndrome care team and understand lifelong renal screening guidelines. Get facts on FLCN genetic family testing.

Common questions in this guide

What is Familial Spontaneous Pneumothorax (FSP)?
FSP is a clinical term used when two or more close biological relatives experience a sudden lung collapse. It usually indicates that the collapses are caused by a shared genetic trait rather than random chance.
How is Birt-Hogg-Dubé (BHD) syndrome related to lung collapses?
BHD is a rare genetic condition caused by an FLCN gene mutation and is the most common cause of inherited lung collapses. It causes thin-walled cysts to form in the lower areas of the lungs, which can rupture and cause a collapse.
What are the signs of a spontaneous lung collapse?
The hallmark symptoms of a spontaneous lung collapse are sudden, sharp chest pain that worsens when taking a deep breath, and a sudden feeling of shortness of breath. This is a medical emergency that requires immediate evaluation.
What other organs does BHD syndrome affect?
Besides the lungs, BHD increases the risk of developing slow-growing kidney tumors, making regular ultrasound or MRI monitoring essential. It can also cause harmless, skin-colored bumps called fibrofolliculomas to form on the face, neck, or ears.
How can doctors prevent future lung collapses if I have BHD?
Instead of waiting for another collapse, specialists often recommend a proactive procedure called pleurodesis. This surgery attaches the lung to the chest wall to effectively prevent future collapses.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Have you reviewed my CT scans specifically for the location and number of lung cysts, and do they match the pattern seen in Birt-Hogg-Dubé syndrome?
  2. 2.Based on my family history of lung collapses, should I be referred to a genetic counselor to test for the FLCN gene mutation?
  3. 3.Because BHD can involve other organs, what is the protocol for screening my kidneys for cysts or tumors?
  4. 4.Given my risk for recurrence, is a pleurodesis procedure more appropriate for me than 'watchful waiting' after a collapse?
  5. 5.Are there specific physical activities or travel considerations (like scuba diving or flying) that I should modify?

Questions For You

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References

References (22)
  1. 1

    The prevalence of spontaneous pneumothorax in patients with BHD syndrome: a systematic review and meta-analysis.

    Zhang Y, Wang Y, Wang J, et al.

    Orphanet journal of rare diseases 2025; (20(1)):218 doi:10.1186/s13023-025-03726-z.

    PMID: 40336059
  2. 2

    Familial spontaneous pneumothorax: importance of screening for Birt-Hogg-Dubé syndrome.

    Liu Y, Xing H, Huang Y, et al.

    European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2020; (57(1)):39-45 doi:10.1093/ejcts/ezz171.

    PMID: 31177286
  3. 3

    Birt-Hogg-Dube syndrome: A case report and case study of primary spontaneous pneumothorax caused by folliculin gene mutation.

    Shen X, Liao H

    Medicine 2025; (104(47)):e46188 doi:10.1097/MD.0000000000046188.

    PMID: 41305765
  4. 4

    Birt-Hogg-Dubé syndrome: a case report and a review of the literature.

    Jensen DK, Villumsen A, Skytte AB, et al.

    European clinical respiratory journal 2017; (4(1)):1292378 doi:10.1080/20018525.2017.1292378.

    PMID: 28326182
  5. 5

    The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.

    Torricelli E, Occhipinti M, Cavigli E, et al.

    Respiration; international review of thoracic diseases 2019; (98(2)):125-132 doi:10.1159/000498973.

    PMID: 31266032
  6. 6

    Correlative analysis of lung CT findings in patients with Birt-Hogg-Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study.

    Yang J, Hu X, Li J, et al.

    BMC medical imaging 2022; (22(1)):22 doi:10.1186/s12880-022-00743-3.

    PMID: 35125098
  7. 7

    Characterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases.

    Xu W, Xu Z, Liu Y, et al.

    Orphanet journal of rare diseases 2020; (15(1)):176 doi:10.1186/s13023-020-01448-y.

    PMID: 32631372
  8. 8

    Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.

    Sriram JD, van de Beek I, Johannesma PC, et al.

    BMC pulmonary medicine 2022; (22(1)):325 doi:10.1186/s12890-022-02107-7.

    PMID: 36028846
  9. 9

    The Genetics of Pneumothorax.

    Boone PM, Scott RM, Marciniak SJ, et al.

    American journal of respiratory and critical care medicine 2019; (199(11)):1344-1357 doi:10.1164/rccm.201807-1212CI.

    PMID: 30681372
  10. 10

    Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax.

    Xing H, Liu Y, Jiang G, et al.

    Journal of thoracic disease 2017; (9(7)):1967-1972 doi:10.21037/jtd.2017.06.69.

    PMID: 28839995
  11. 11

    Differentiation Between Lymphangioleiomyomatosis and Birt-Hogg-Dubé Syndrome: Analysis of Pulmonary Cysts on CT Images.

    Park HJ, Chae EJ, Do KH, et al.

    AJR. American journal of roentgenology 2019; (212(4)):766-772 doi:10.2214/AJR.18.20232.

    PMID: 30673341
  12. 12

    Birt-Hogg-Dubé syndrome: characteristic CT findings differentiating it from other diffuse cystic lung diseases.

    Lee JE, Cha YK, Kim JS, Choi JH

    Diagnostic and interventional radiology (Ankara, Turkey) 2017; (23(5)):354-359 doi:10.5152/dir.2017.16606.

    PMID: 28830849
  13. 13

    Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.

    Park HJ, Choi YJ, Park CH, et al.

    Diagnostics (Basel, Switzerland) 2023; (13(12)) doi:10.3390/diagnostics13122047.

    PMID: 37370942
  14. 14

    Birt-Hogg-Dubé syndrome: a large single family cohort.

    Skolnik K, Tsai WH, Dornan K, et al.

    Respiratory research 2016; (17()):22 doi:10.1186/s12931-016-0339-2.

    PMID: 26928018
  15. 15

    A Rare Case of Spontaneous Pneumothorax Recurrence 30 Years After Surgery in a Patient with Birt-Hogg-Dube Syndrome: Case Presentation and Short Review of the Literature.

    Leivaditis V, Papatriantafyllou A, Koletsis E, et al.

    Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH 2023; (31(2)):146-150 doi:10.5455/aim.2023.31.146-150.

    PMID: 37711493
  16. 16

    A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome.

    Karaman E, Ufuk F, Demirci M, Yavaş HG

    Turkish thoracic journal 2018; (19(3)):150-152 doi:10.5152/TurkThoracJ.2018.17045.

    PMID: 30083407
  17. 17

    Birt-Hogg-Dubé Syndrome.

    Patel TM, Beal MA, Schroeder G, Shifren A

    Clinics in chest medicine 2025; (46(4)):619-632 doi:10.1016/j.ccm.2025.07.004.

    PMID: 41110925
  18. 18

    Hereditary renal cell carcinoma surveillance protocols: a review of the literature and proposed recommendations.

    Miranda M, Ferreira C, Fernandes M, et al.

    Familial cancer 2026; (25(1)):10 doi:10.1007/s10689-025-00527-y.

    PMID: 41518461
  19. 19

    Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.

    Geilswijk M, Bendstrup E, Madsen MG, et al.

    Molecular genetics & genomic medicine 2018; (6(3)):332-338 doi:10.1002/mgg3.373.

    PMID: 29439288
  20. 20

    A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review.

    Cai M, Zhang X, Fan L, et al.

    Frontiers in genetics 2021; (12()):636900 doi:10.3389/fgene.2021.636900.

    PMID: 33927747
  21. 21

    Update of penetrance estimates in Birt-Hogg-Dubé syndrome.

    Bruinsma FJ, Dowty JG, Win AK, et al.

    Journal of medical genetics 2023; (60(4)):317-326 doi:10.1136/jmg-2022-109104.

    PMID: 36849229
  22. 22

    Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.

    Sattler EC, Steinlein OK

    BMC medical genetics 2018; (19(1)):45 doi:10.1186/s12881-018-0558-0.

    PMID: 29548312

This page provides educational information about Familial Spontaneous Pneumothorax and Birt-Hogg-Dubé syndrome. Always consult a pulmonologist or genetic counselor for formal diagnosis, screening protocols, and personalized treatment.

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