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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Pulmonology · Birt-Hogg-Dubé Syndrome

Building Your Care Team and Lifelong Surveillance

At a Glance

Managing Birt-Hogg-Dubé (BHD) syndrome requires a multidisciplinary care team and lifelong surveillance. The most critical aspect is regular kidney MRI screening every 1 to 2 years starting around age 20. Family members should also undergo FLCN genetic testing to start preventative care early.

A diagnosis of Birt-Hogg-Dubé (BHD) syndrome or Familial Spontaneous Pneumothorax (FSP) is not just a lung condition; it is a lifelong health management journey. Because this condition can affect several different parts of the body, you need a coordinated team of specialists who understand the “big picture” of the syndrome rather than just one individual symptom [1][2].

Building Your Multidisciplinary Team

Rarity means you may need to be your own best advocate. A complete care team for BHD typically includes:

  • Pulmonologist: Manages lung health, monitors cysts, and advises on “pneumothorax precautions” like travel and diving [3][4].
  • Geneticist/Genetic Counselor: Confirms the FLCN mutation and helps coordinate testing for your family members [5][6].
  • Urologist: The “protector” of your kidneys. They manage the regular screening needed to catch any kidney tumors early [7][8].
  • Dermatologist: Identifies and monitors fibrofolliculomas (benign skin bumps) and can offer treatments if they become bothersome [9][10].
  • Radiologist: A specialist who “reads” your scans. It is helpful to have a radiologist experienced in BHD to recognize the specific patterns of cysts and tumors [11][12].

Lifelong Renal Surveillance: The Vital Priority

While lung collapses are the most dramatic symptom of BHD, the most critical part of long-term care is monitoring the kidneys. People with BHD have an increased risk of developing kidney tumors, but when caught early, these are highly treatable [7][13].

  • When to Start: Screening should typically begin in early adulthood, often around age 20 [14].
  • The Preferred Tool: MRI (Magnetic Resonance Imaging) is generally preferred over CT scans for lifelong screening. This is because MRI does not use radiation, which is important when you will be getting scans for many decades [15][16].
  • Frequency: Most experts recommend a scan every 1 to 2 years [7][15].
  • The Goal: The goal is to detect any growth when it is small enough (usually under 3cm) to perform “nephron-sparing” surgery, which removes the tumor while leaving the rest of the healthy kidney intact [7][17].

Caring for the Family and Future Generations

Because BHD is autosomal dominant, each child of an affected parent has a 50% chance of inheriting the mutation [7][18].

  • First-Degree Relatives: Parents, siblings, and children of someone with a confirmed FLCN mutation should be offered genetic testing [7][11].
  • Predictive Testing: Knowing the genetic status of family members allows them to start their own surveillance (like renal MRIs) before any symptoms appear [5][6].
  • Family Planning: If you are planning to have children and want to prevent passing the FLCN mutation to the next generation, a genetic counselor can discuss options such as In Vitro Fertilization (IVF) combined with Preimplantation Genetic Testing (PGT-M).

Managing “Scan Anxiety”

It is normal to feel “scanxiety”—the stress that builds before a scheduled MRI or CT [7]. Remember that these scans are a tool for empowerment. They allow you to stay ahead of the condition, ensuring that any changes are caught at the most treatable stage possible [1][7]. Establishing a routine with a team you trust can help turn this anxiety into a sense of proactive control [1][11].

Return to Home

Common questions in this guide

What doctors should be on my BHD syndrome care team?
A complete care team typically includes a pulmonologist for your lungs, a urologist to monitor your kidneys, a dermatologist for skin bumps, a genetic counselor, and a radiologist experienced in reading BHD scans.
How often do I need kidney screening with BHD?
Most experts recommend a kidney scan every 1 to 2 years starting in early adulthood, usually around age 20. MRI is the preferred tool because it avoids the cumulative radiation of frequent CT scans.
Does my family need genetic testing if I have an FLCN mutation?
Yes. Birt-Hogg-Dubé syndrome is autosomal dominant, meaning your parents, siblings, and children each have a 50% chance of inheriting the mutation. Predictive testing allows them to start vital screening early.
What is the goal of regular kidney MRIs in BHD?
The goal is to detect any kidney tumors while they are very small, usually under 3 centimeters. Finding them early allows for nephron-sparing surgery, which removes the tumor while keeping the rest of the healthy kidney intact.
How can I manage the stress of regular medical scans?
It is completely normal to experience 'scanxiety' before a scheduled MRI. Establishing a consistent routine with a medical team you trust can help turn this anxiety into a sense of proactive control over your health.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Who should be the 'point person' or coordinator for my care team to ensure all my specialists are communicating?
  2. 2.Based on my specific FLCN mutation, should I begin renal screening annually or biennially?
  3. 3.Since MRI doesn't use radiation, can we make that the default for my lifelong renal screening to avoid cumulative CT radiation?
  4. 4.At what age should my children be tested for the FLCN mutation, and when should their screening begin?
  5. 5.Are there specific skin treatments available if my facial bumps (fibrofolliculomas) become bothersome or inflamed?

Questions For You

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References

References (18)
  1. 1

    ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.

    Geilswijk M, Genuardi M, Woodward ER, et al.

    European journal of human genetics : EJHG 2024; (32(12)):1542-1550 doi:10.1038/s41431-024-01671-2.

    PMID: 39085584
  2. 2

    Guiding the future of clinical care and clinical research in Birt-Hogg-Dubé.

    Alchoueiry M, Lambert WC, Henske EP

    European journal of human genetics : EJHG 2024; (32(12)):1522-1523 doi:10.1038/s41431-024-01696-7.

    PMID: 39341986
  3. 3

    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
  4. 4

    Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.

    Johannesma PC, van de Beek I, van der Wel JW, et al.

    SpringerPlus 2016; (5(1)):1506 doi:10.1186/s40064-016-3009-4.

    PMID: 27652079
  5. 5

    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
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    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
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    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
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    Percutaneous thermal ablation for renal cell carcinoma in patients with Birt-Hogg-Dubé syndrome.

    Matsui Y, Hiraki T, Gobara H, et al.

    Diagnostic and interventional imaging 2019; (100(11)):671-677 doi:10.1016/j.diii.2019.06.009.

    PMID: 31302073
  9. 9

    A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome.

    Covello B, Kaufman S, Whittington E, Enrizo O

    Radiology case reports 2021; (16(6)):1249-1254 doi:10.1016/j.radcr.2021.02.058.

    PMID: 33868530
  10. 10

    Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report.

    van Riel L, Kets CM, van Hest LP, et al.

    Familial cancer 2024; (23(4)):579-582 doi:10.1007/s10689-024-00408-w.

    PMID: 38900222
  11. 11

    Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm.

    Shakur A, Stewart GD, Sadler TJ, et al.

    Insights into imaging 2025; (16(1)):169 doi:10.1186/s13244-025-02053-y.

    PMID: 40770455
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    The ABCs of BHD: An In-Depth Review of Birt-Hogg-Dubé Syndrome.

    Gupta S, Kang HC, Ganeshan D, et al.

    AJR. American journal of roentgenology 2017; (209(6)):1291-1296 doi:10.2214/AJR.17.18071.

    PMID: 28981362
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    Birt-Hogg-Dubé syndrome.

    Berger I, Berland S, Rodriguez JR, et al.

    Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke 2020; (140(6)) doi:10.4045/tidsskr.18.0848.

    PMID: 32321218
  14. 14

    A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.

    Vocke CD, Fleming LR, Piskorski AM, et al.

    American journal of medical genetics. Part A 2023; (191(2)):490-497 doi:10.1002/ajmg.a.63049.

    PMID: 36513625
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    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
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    Birt-Hogg-Dubé syndrome caused by a mutation of FLCN gene in a CVST patient: a case report.

    Han J, Hao J, Liu R, et al.

    The International journal of neuroscience 2020; (130(5)):438-442 doi:10.1080/00207454.2019.1691204.

    PMID: 31694440
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    Percutaneous Thermal Ablation for Renal Tumors in Patients with Birt-Hogg-Dubé Syndrome.

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    Cancers 2022; (14(20)) doi:10.3390/cancers14204969.

    PMID: 36291753
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    Role of Radiologists in the Diagnosis of Unsuspected Birt-Hogg-Dubé Syndrome in a Tertiary Clinical Practice.

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    PMID: 31120782

This page provides general information about managing BHD syndrome and FSP. Always consult your specialized healthcare team to determine the best screening schedule and treatment plan for your specific situation.

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