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Rare lung & airway condition

Birt-Hogg-Dubé syndrome and the lungs

Birt-Hogg-Dubé syndrome is a genetic condition causing lung cysts and recurrent pneumothorax, skin bumps, and - most importantly - a lifelong kidney cancer risk needing surveillance.

Key points

The essentials at a glance.

What to look out for, how the diagnosis is confirmed, who looks after it, and the options that exist.

  • 01

    Lung features: multiple thin-walled cysts, typically at the lung bases, with a greatly increased pneumothorax risk.

  • 02

    Skin clues are small pale facial bumps (fibrofolliculomas) from the 20s onward.

  • 03

    The critical association is kidney tumours - lifelong periodic renal MRI surveillance is recommended.

  • 04

    Diagnosis is confirmed by FLCN gene testing; relatives should be offered cascade testing.

  • 05

    Pneumothorax in BHD is managed with a low threshold for definitive pleurodesis given high recurrence.

Understanding it

What it is, and what happens next.

In plain English - what is going on, how specialists confirm it, and the routes to treatment in the UK.

Birt-Hogg-Dubé is one of medicine's quiet syndromes: a folliculin gene fault producing skin papules dismissed for decades, basal lung cysts found after a collapsed lung, and kidney tumours that appear silently in mid-life. The pneumothorax is often the loudest event - and the opportunity, because recognising the pattern converts an emergency into a family-wide programme of prevention.

Anyone with unexplained multiple lung cysts or recurrent pneumothorax deserves consideration of FLCN testing; a confirmed diagnosis triggers renal imaging surveillance for the patient and genetic testing for relatives, early pleurodesis discussions, and sensible precautions around flying and diving guided by a respiratory specialist familiar with cystic lung disease. In many parts of the UK, routine NHS outpatient referrals for problems like this can take several months, whereas an initial appointment with a private consultant is typically available within around two weeks.

A quiet reminder

This guide is for information, not medical advice.

Your GP or specialist knows your history and can tell you which parts apply to you. If in doubt, speak to them.

Published 2026-09-27 · Next review 2027-09-27

Frequently asked

Common questions about Birt-Hogg-Dubé syndrome and the lungs.

Quick, plain-English answers to what people ask us most.

  • What is birt-Hogg-Dubé syndrome and the lungs?

    Birt-Hogg-Dubé syndrome and the lungs is a recognised medical condition that can affect people in different ways, ranging from mild and easily managed to more significant, depending on the underlying cause, how early it is picked up, and how it is treated. Getting a clear diagnosis is usually the first step towards the right management plan.

  • What causes birt-Hogg-Dubé syndrome and the lungs?

    Birt-Hogg-Dubé syndrome and the lungs can arise from a combination of factors, which may include genetics, lifestyle, environmental exposures, other underlying health conditions, or simply the normal effects of ageing on the body. In many cases no single cause is found, and several factors act together. A clinician can help identify which factors are most relevant in an individual case.

  • What are the symptoms of birt-Hogg-Dubé syndrome and the lungs?

    Symptoms of birt-Hogg-Dubé syndrome and the lungs vary from person to person and depend on how severe the condition is and which structures are affected. Some people notice symptoms gradually over weeks or months, while others experience a more sudden onset. Because symptoms can overlap with other conditions, a proper assessment is important to reach an accurate diagnosis rather than relying on symptoms alone.

  • Is birt-Hogg-Dubé syndrome and the lungs serious or dangerous?

    Most cases of birt-Hogg-Dubé syndrome and the lungs are manageable, especially when identified and treated early, but severity varies from mild and self-limiting to more significant, depending on individual circumstances. Left unassessed, some cases can lead to complications or a longer-term impact on daily life. If you are worried about your symptoms, it is always worth getting them checked rather than waiting.

  • Is birt-Hogg-Dubé syndrome and the lungs hereditary or genetic?

    Some cases of birt-Hogg-Dubé syndrome and the lungs have a genetic component and can run in families, while others occur without any family history at all. Having a relative with the condition may modestly increase your own risk, but it does not mean you will definitely develop it yourself. If you are concerned about a family history, mention this to your doctor, as it may occasionally influence screening or monitoring.

  • Can birt-Hogg-Dubé syndrome and the lungs be cured, reversed or prevented?

    Outlook varies with birt-Hogg-Dubé syndrome and the lungs: some cases resolve completely with treatment, others improve significantly but need ongoing management, and a smaller number become a long-term condition to be controlled rather than cured. Prevention strategies, such as addressing modifiable risk factors, can reduce your chances of developing it or of it recurring, but cannot guarantee against it in every case.

  • How is birt-Hogg-Dubé syndrome and the lungs treated?

    Treatment for birt-Hogg-Dubé syndrome and the lungs is tailored to the individual and depends on severity, underlying cause and personal circumstances. Options can range from simple lifestyle measures, monitoring and conservative treatment through to medication, specialist procedures or surgery in more significant cases. A specialist assessment helps identify which combination of treatments is most appropriate for you.

  • How long does birt-Hogg-Dubé syndrome and the lungs last?

    The duration of birt-Hogg-Dubé syndrome and the lungs varies considerably: some people recover within days or weeks, while others live with a more persistent or recurring condition that needs ongoing management. Response to treatment, how early it is started, and individual factors all influence the timescale. Your clinician can give you a more personalised estimate once your specific circumstances are known.

  • When is surgery needed for birt-Hogg-Dubé syndrome and the lungs?

    Surgery is not usually the first option for birt-Hogg-Dubé syndrome and the lungs and is generally reserved for cases where conservative treatment has not worked, symptoms are severe, or there is a significant structural problem that needs to be corrected directly. The decision depends on your specific findings, symptoms and how they are affecting your life. A specialist consultation is the best way to establish whether surgery is being considered too early, or should be considered sooner rather than later.

  • When should I see a doctor about birt-Hogg-Dubé syndrome and the lungs, and how quickly can I be seen privately?

    It is worth seeing a doctor about birt-Hogg-Dubé syndrome and the lungs if symptoms are persistent, getting worse, or affecting your daily life, rather than waiting to see if they settle on their own. NHS routine referrals to a specialist can currently take anywhere from around 20 to 45 weeks or more depending on your area, whereas a private consultant can typically see you within about 2 weeks. Getting an earlier assessment can help clarify the diagnosis and start the right treatment sooner.