Rare Lung Conditions

Rare lung conditions, also known as orphan lung diseases, refer to a diverse group of rare diseases that affect the respiratory system.

The rarity of these diseases varies depending on the type of disease, but they generally don’t affect the elderly and are more common from birth up until the age of 60. Despite their rarity, these diseases are typically chronic and require specialised care and management. There is currently no cure for most types of rare lung conditions, but treatment options are available.

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Types of Rare Lung Conditions

Cystic fibrosis (CF) is a genetic disorder characterised by the buildup of thick, sticky mucus in the lungs and other organs. This abnormal mucus can obstruct airways, leading to recurrent lung infections, inflammation, and progressive lung damage. CF also affects the pancreas, digestive system, and sweat glands.

  • Symptoms: Persistent cough with thick mucus, recurrent lung infections (such as pneumonia and bronchitis), shortness of breath, wheezing, poor growth despite a good appetite, and increased salt levels in the skin, which can normally be tasted by parents kissing their children.
  • Treatment: Treatment aims to alleviate symptoms and prevent complications. It often includes airway clearance techniques, inhaled medications to open airways, oral enzyme replacement therapy to aid digestion, and aggressive management of lung infections. Therapies targeting specific genetic mutations are also available.

Pulmonary arterial hypertension (PAH) is a rare and progressive condition characterised by high blood pressure in the arteries of the lungs. This elevated pressure forces the heart to work harder to pump blood through the lungs, eventually leading to heart failure. PAH can be idiopathic (of unknown cause) or associated with other conditions, such as connective tissue diseases, congenital heart defects, or exposure to certain drugs or toxins.

  • Symptoms: Shortness of breath, fatigue, chest pain, fainting, irregular heartbeat, swollen ankles or abdomen, and bluish lips or skin.
  • Treatment: Treatment aims to improve symptoms, slow disease progression, and prolong survival. Medications such as vasodilators, endothelin receptor antagonists, and prostacyclin analogs may be prescribed to dilate blood vessels and reduce pulmonary pressure. Oxygen therapy, diuretics, and anticoagulants may also be used in certain cases.

Beryllium disease, also known as chronic beryllium disease (CBD) or berylliosis, is a rare lung condition caused by exposure to beryllium, a lightweight metal used in various industries such as aerospace, electronics, and manufacturing. Inhalation of beryllium dust or fumes can trigger an immune response in susceptible people, leading to lung inflammation and scarring (fibrosis).

  • Symptoms: Chronic cough, shortness of breath, chest pain, fatigue, fever, and weight loss are common symptoms. Symptoms may appear weeks to years after exposure to beryllium.
  • Treatment: Treatment focuses on relieving symptoms and preventing further lung damage. Corticosteroids and other immunosuppressive medications may be prescribed to reduce inflammation. Avoiding further exposure to beryllium is crucial to prevent disease progression.

Alpha-1 antitrypsin deficiency is a genetic disorder characterised by low levels of dysfunctional alpha-1 antitrypsin protein in the blood. This protein normally protects the lungs from damage caused by enzymes released by inflammatory cells. Without sufficient alpha-1 antitrypsin, the lungs are more susceptible to inflammation and destruction, leading to conditions such as chronic obstructive pulmonary disease (COPD) and emphysema.

  • Symptoms: Shortness of breath, wheezing, chronic cough, recurrent respiratory infections, and liver disease (such as cirrhosis) are common symptoms. Symptoms typically appear in adulthood, although they can manifest earlier in life.
  • Treatment: Treatment aims to manage symptoms, slow disease progression, and reduce complications. This may involve medications to alleviate breathing difficulties (such as bronchodilators), pulmonary rehabilitation, and lifestyle modifications (such as smoking cessation).

Lymphangioleiomyomatosis (LAM) is a rare lung disease characterised by the abnormal growth of smooth muscle cells in the lungs, leading to the formation of cysts. It primarily affects women of childbearing age and is often associated with a genetic disorder called tuberous sclerosis complex (TSC).

  • Symptoms: Shortness of breath, coughing, chest pain, pneumothorax (collapsed lung), and chylous effusions are common symptoms.
  • Treatment: Treatment aims to manage symptoms and slow disease progression. Therapies may include sirolimus, a medication that inhibits cell growth. Lung transplantation may be considered in advanced cases.

Sarcoidosis is a multisystem inflammatory condition characterised by the formation of granulomas (clumps of inflammatory cells) in various organs, most commonly the lungs and lymph nodes. The exact cause is unknown, but it’s believed to involve an abnormal immune response.

  • Symptoms: Symptoms vary widely but may include coughing, shortness of breath, chest pain, fatigue, fever, and skin lesions.
  • Treatment: Treatment depends on the severity and organ involvement. Corticosteroids are commonly used to reduce inflammation. Other medications, such as immunosuppressants and biologics, may be prescribed for refractory cases.

Pulmonary fibrosis involves scarring and thickening of lung tissue, leading to difficulty breathing. This condition can be idiopathic or secondary to factors such as environmental exposures, autoimmune diseases, or certain medications.

  • Symptoms: Persistent dry cough, shortness of breath, fatigue, unexplained weight loss, and clubbing of fingers are common symptoms.
  • Treatment: Treatment aims to slow disease progression and manage symptoms. It may include medications such as corticosteroids, immunosuppressants, and antifibrotic drugs. In severe cases, lung transplantation may be considered.

Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterised by the accumulation of surfactant-derived lipoproteins within the alveoli, leading to impaired gas exchange. It can be classified into congenital, secondary, and autoimmune forms.

  • Symptoms: Gradual onset of breath shortness, coughing, fatigue, and weight loss.
  • Treatment: Treatment often involves whole lung lavage, a procedure to remove excess surfactant from the lungs. In some cases, granulocyte-macrophage colony-stimulating factor (GM-CSF) therapy may be beneficial.


Diagnosis of rare lung conditions involves multiple diagnostic techniques to ensure you receive an accurate diagnosis. These techniques include:

  • Medical evaluation
  • Blood tests
  • Imaging tests (X-rays, CT scans, or MRI scans)
  • Genetic tests
  • Lung biopsy
  • Bronchoscopy
  • Pulmonary function tests
  • Oxygen desaturation study

Your lungs are important and they deserve to be treated with specialised care.

That’s why the team at North Brisbane Sleep and Thoracic are passionate about your lung health and provide experienced and specialised treatment options for rare lung conditions.

Contact us to book an appointment

Visit us at either our Clayfield or North Lakes location and experience compassionate care in a comfortable environment, tailored to meet your unique needs.