About rare cystic lung diseases (rare CLD)

What are rare cystic lung diseases? 

Cystic lung diseases (CLD) are a group of rare conditions that cause small, air-filled cysts to form in the lungs. These cysts can, in some cases, gradually replace healthy lung tissue. This makes it harder to breathe and reduces the lungs’ ability to take in oxygen. In some cases, especially in genetic or systemic diseases, rare CLD can also affect other organs, like the kidneys.

The severity of the disease and the way in which it changes over time can be very different from person to person.  

Healthcare professionals and researchers have a good understanding of some rare cystic lung diseases, like Birt-Hogg-Dubé syndrome (BHD), lymphangioleiomyomatosis (LAM), Langerhans cell histiocytosis (LCH) and lymphoid interstitial pneumonia (LIP). Other types of CLD, including ultra-rare “orphan” diseases, are less well understood.  

Thanks to improved imaging techniques, such as specialised scans, healthcare professionals are now better able to identify and classify different forms of rare CLD. This can help doctors to make an accurate diagnosis, which is very important as some diseases have targeted treatments or require screening for related conditions.  

What are the challenges of living with a rare cystic lung disease? 

Different forms of rare CLD can present different challenges. For example, some people living with rare CLD can experience serious issues, such as breathlessness, lung collapse (pneumothorax) or even respiratory failure. Other people experience few or no symptoms.  

People living with rare CLD can experience significant delays in diagnosis and uncertainty about how their condition will develop over time. Living with a rare disease can affect mental health and wellbeing. For example, when a condition has a genetic cause, people can feel worried about how their family may be affected. 

What care and support is available? 

There is no single treatment for rare CLD because care decisions depend on the underlying diagnosis.

For some diseases, such as LAM, there are specific medications like sirolimus that can slow disease progression. In other cases, treatment is focused on managing symptoms. This might involve things like oxygen therapy, regular imaging, and lifestyle adjustments like avoiding smoking. People who have a form of CLD that also affects other organs may require additional treatment or monitoring. 

For rare CLD that has a genetic cause, family screening and genetic counselling may be recommended. Supportive care and specialist monitoring remain essential to improving quality of life and delaying complications. Other conditions are so rare that only supportive care is available. 

Remember, every person is different. Always ask your doctor or another trained health professional if you have concerns about your health.

Learn how our Centre is working to improve the diagnosis and treatment of rare CLD >