Connective tissue disease associated interstitial lung disease (CTD-ILD)

Connective tissue diseases are autoimmune conditions. These conditions happen when the body’s natural defence system, known as the immune system, mistakenly attacks parts of the body. They can affect many organs in the body including lungs, heart, kidneys and blood vessels.

The connective tissue diseases which most commonly affect the lungs include:

• systemic sclerosis (scleroderma)
• rheumatoid arthritis
• idiopathic inflammatory myopathies
• Sjögren’s disease
• mixed connective tissue disease
• undifferentiated connective tissue disease
• systemic lupus erythematosus.

When the lungs are involved, it can lead to inflammation (damage that can be reversed) or scarring/fibrosis (damage that cannot be reversed). This is known as interstitial lung disease (ILD). Healthcare professionals use the collective term CTD-ILD to describe people living with this range of symptoms.

The most common symptoms of CTD-ILD are:

• Shortness of breath, which at first, may occur only during physical activity, but as the condition progresses, it can happen even at rest.
• A cough, which is usually dry but may produce mucus if scarring (fibrosis) develops.
• Fatigue (extreme tiredness).

CTDs affect the whole body so some people also experience joint pain, joint stiffness, especially in the morning, muscle weakness, skin changes, Raynaud’s phenomenon (fingers turning white or blue in the cold), dry eyes or mouth, cracking of the skin on the fingers or acid reflux.

There is a continuous interaction between CTD and ILD, which can make symptoms worse. For example, breathlessness due to ILD could be worsened by:

• joint pain and stiffness (for example in rheumatoid arthritis), which could significantly affect a person’s mobility, leading to a loss of fitness and breathlessness
• the development of increased pressure in the blood vessels (often pulmonary hypertension), which is common in systemic sclerosis and in mixed CTD.

Cough can also be the result of ILD when it happens alongside reflux due to changes in the oesophagus (common in systemic sclerosis), or by dryness in the mouth and airways (common in Sjorgeren’s syndrome).

“Before I was diagnosed, I felt breathless just doing a simple walk. This was the first thing I noticed. I have now had to live with breathlessness for 25 years.” Ilaria, Italy

If symptoms of the underlying disease are not well-managed, it can make the lung condition worse. There is a need for healthcare professionals in the different areas, for example respiratory physicians and rheumatologists, to work together to help manage this.

CTD-ILD can develop when environmental factors, such as smoking, air pollution or infections act as triggers for people who are genetically susceptible (they carry mutations of certain genes passed down from their parents).

Not everyone with a connective tissue disease will develop interstitial lung disease. International guidelines have been developed to help professionals understand who should receive a lung scan to check for any issues.

The guidelines state that the following factors suggest a scan of the lungs is needed:

• For people with rheumatoid arthritis (RA):
  • Older age
  • History of smoking
  • Signs of specific antibodies in a blood test
  • Signs of inflammation in a blood test
  • Being male
  • High joint disease activity

• For people with idiopathic inflammatory myopathies (IIM), including myositis:
  • Anti-synthetase syndrome
  • Skin symptoms without muscle weakness
  • Rough, cracked skin on fingers
  • Arthritis
  • Signs of specific antibodies in a blood test

• For people with systemic sclerosis and mixed CTD:
  • Everyone should get a scan, because just having the disease increases the risk of ILD.

Read more about this in a lay summary of the guidelines.

There is currently no proven way to prevent CTD-ILD completely.

However, finding symptoms early can help improve quality of life for people living with the condition. Managing the underlying connective tissue disease and avoiding known risk factors, such as smoking, may help reduce the risk of developing lung disease or slow down any worsening of symptoms if CTD-ILD has already developed.

If someone already has a CTD and a healthcare professional thinks that there is a problem with the lungs, they will receive a lung scan and lung function tests to see how well the lungs are working. These tests could help diagnose the condition at an earlier point and check how severe the condition is.

In some people, ILD develops before the connective tissue disease is fully recognised, which can make diagnosis more challenging. In this case, healthcare professionals will take a detailed medical history and do a physical examination and blood tests to look for CTDs.

People should always be referred to specialist centres with experience in ILD and connective tissue diseases. These centres usually involve a team of people working in different areas, including lung health specialists and rheumatologists.

Some people experience delays in diagnosis because CTD-ILD is rare and symptoms can be vague at first. Increasing awareness among healthcare professionals and early referral to specialist centres can help to reduce delays and allow treatment to start sooner.

“Due to the disease I had to change all my life: social life, working life and family life. It is a complex disease that affects all the body and I adjusted my habits accordingly. Each change has been an effort, but it is part of my life now, and I try to take it as it comes. For example, instead of going out in the evening until late, we meet our friends at lunch, so that I can rest in the afternoon. Little things that can have a huge impact on daily life, for sure.” Ilaria, Italy.

The goal of treatment is to improve symptoms, slow down any worsening of the disease and support overall quality of life. Treatment depends on the type of underlying connective tissue disease and how severe the lung symptoms are. Options may include:

Medications

• Medicines that reduce the activity of the immune system like steroids and other drugs that reduce inflammation
• Anti-fibrotic medicines that can slow down lung damage
• Other medicines may be used to managed related problems, such as high blood pressure in the lungs, acid reflux or infections.

The choice of medicine, or combination of medicine, depends on how severe the lung symptoms are, a person’s overall health and how well they can manage any side effects of the medicines.

Non-medication options

• Pulmonary rehabilitation; a structured programme of physical activity and education to learn more about lung health and quality of life
• Diet changes to help manage some symptoms or any side-effects of medicine
• Oxygen therapy if it is needed
• Psychological support to help mental wellbeing

Advanced option

People with severe disease that does not improve with treatment may be referred for transplantation assessment to see if a lung transplant is an option.

In very severe cases, lung transplantation may be considered for people living with very severe symptoms and a poor quality of life.

• You can read more about the international guidelines, which provide recommendations for healthcare professionals on diagnosing and managing the lung fibrosis aspect of connective tissue diseases and rheumatoid arthritis.
  • Read the full guideline
  • Read a lay summary
  • Watch a video from patient representative Ilaria Galetti who worked with us to produce a video about the guidelines.

• The Federation of European Scleroderma Associations is an umbrella group of scleroderma patient support-and-advocacy organisations working to increase awareness, and advocate for equitable treatments forpeople with scleroderma throughout Europe. Learn more.
• Read information on similar topics:
  • Managing breathlessness
  • Pulmonary rehabilitation 
  • Lung transplant 

This information was put together with the help of Dr George Margaritopoulos, Professor Antoine Froidure and Ilaria Galetti.