Other causes of lung cysts and pneumothorax

Spontaneous pneumothorax can also occur in otherwise healthy people. The following factors increase the risk:

  • Smoking;
  • Gender: men are more likely to develop lung collapse than women;
  • Height: tall people are more likely to develop a pneumothorax;
  • Age: pneumothorax is more frequent between 20-40 years of age;
  • Lung disease.

If you experience recurrent pneumothoraces or you have a family history of pneumothorax, it is more likely that there is an underlying cause, such as BHD or one of the conditions below.

Conditions other than BHD syndrome which may cause spontaneous pneumothorax include:

Alpha-1 Antitrypsin deficiency

  • Alpha-1 Antitrypsin deficiency is caused by recessive mutations in the AAT gene (i.e. both copies of the AAT gene need to be mutated to cause disease).
  • Alpha-1 Antitrypsin is a protein that protects the liver and lung from damage by enzymes. A deficiency in this protein leads to lung and liver damage.
  • Alpha-1 Association (US)
  • Alpha-1 UK Support Group

Catamenial Pneumothorax

  • Women with catamenial pneumothorax repeatedly develop a collapsed lung within 3 days before or after the start of their period. The underlying cause is currently unknown, but it seems to be linked to endometriosis.
  • Catamenial Pneumothorax and Endometriosis

Chronic Obstructive Pulmonary Disease (COPD)

  • COPD is not usually hereditary. The number one cause of COPD is smoking. Inhalation of chemicals, fumes and dust found at many workplaces can also cause COPD.
  • Alpha-1 antitrypsin deficiency can also cause COPD.
  • COPD is a progressive disease that causes lungs to lose their elasticity, become damaged and inflamed, and to get clogged with mucus.
  • European Lung Foundation (Europe)
  • COPD Foundation (US)

Cystic Fibrosis

Ehlers-Danlos Syndrome (EDS)

  • EDS is a group of connective tissue disorders that can be inherited in either a dominant or recessive way, and are caused by mutations in at least seventeen different genes. Mutations in different genes are linked to the different sub-types of EDS.
  • EDS stops collagen fibres forming properly which weakens connective tissues such as skin, bones, blood vessels and internal organs.
  • Ehlers-Danlos Support UK
  • Ehlers-Danlos National Foundation (US)

Lymphangioleiomyomatosis (LAM)

  • LAM is caused by autosomal dominant mutations in the TSC1 or TSC2 genes. These mutations can be sporadic (i.e. not inherited) or inherited. When the mutation is inherited, the patient will also have .
  • LAM mainly affects women and causes lung cysts to form. Unlike BHD, these cysts do affect lung function which becomes progressively worse, and can cause pneumothorax and, in some cases, lung failure.
  • LAM Foundation
  • Tuberous Sclerosis Alliance

Langerhans cell histiocytosis (LCH)

  • LCH is not hereditary and is often caused by smoking, however mutations in the gene BRAF are found in around one half of LCH tumours.
  • LCH is an autoimmune disease which causes the immune system to produce too many Langerhans histiocytic cells. These cells clump together in the lung to form tumours, and attack healthy lung tissue, causing cysts to form.
  • Langerhans Cell Histiocytosis (UK Support Group)
  • Histiocytosis Association of America.

Marfan Syndrome

  • Marfan syndrome is normally caused by autosomal dominant mutations in the FBN1 gene. Spontaneous mutations in the FBN1 gene can also cause Marfan syndrome.
  • Marfan syndrome is caused by defective connective tissues, which affects the heart, blood vessels, bones, joints, eyes, lung, skin and central nervous system. People with Marfan Syndrome also tend to be very tall and have long limbs.
  • The Marfan Foundation

Last Updated: May 2021
Review date: May 2024