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.
  • 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 hereditary and is usually caused by smoking.
  • COPD is a progressive disease that causes lungs to lose their elasticity, become damaged and inflamed, and to get clogged with mucus.
  • PROactive COPD (Europe)
  • COPD Foundation (US)

Cystic Fibrosis

Ehlers-Danlos Syndrome (EDS)

  • EDS is caused by mutations in at least eight different genes, and each gene causes a different sub-type of the syndrome.
  • 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 Tuberous Sclerosis Complex.
  • 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.
  • 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 caused by autosomal dominant mutations in the FBN1 gene.
  • 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


Publication date: December 2014
Review date: December 2017