Spontaneous pneumothoraces not related to BHD syndrome

Spontaneous lung collapse may also occur in individuals not affected by BHD syndrome. The following factors increase the risk of lung collapse:

  • A background of smoking.
  • Gender: men are more likely to develop lung collapse than women. (However, there is a condition, called catamenial pneumothorax, in which women experience lung collapse linked with the menstrual cycle.)
  • Height: taller individuals experience more cases of pneumothorax.
  • Age: pneumothorax is more frequent between 20-40 years of age.
  • Lung disease.

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

Hereditary conditions other than BHD syndrome which may cause spontaneous pneumothorax include:

Alpha-1 Antitrypsin deficiency

  • Alpha-1 Antitrypsin is a protein in the body which protects the lungs and the liver. A deficiency in this protein leads to lung damage.
  • Alpha-1 Association

Cystic Fibrosis

  • Cystic fibrosis is an inherited disease of the mucus glands that leads to damage of the respiratory system.
  • Cystic Fibrosis Foundation

Ehlers-Danlos Syndrome

  • Ehlers-Danlos syndrome is characterised by a lack of strength and structure to skin, bones, blood vessels and internal organs, due to abnormalities in collagen.
  • Ehlers-Danlos National Foundation

Lymphangioleiomyomatosis (LAM)

  • LAM is a rare disease, mainly affecting women, characterised by lung cysts which can lead to pneumothorax, as well as cysts in the lymphatic system and the kidneys. LAM can be sporadic (not inherited) or hereditary and related to TSC.
  • LAM Foundation
  • Tuberous Sclerosis Alliance

Langerhans cell histiocytosis (LCH)

  • LCH is an autoimmune disease in which the immune system mistakenly attacks the body’s own cells, increasing the number of immune cells called histiocytes which can form tumours.
  • Histiocytosis Association of America.

Marfan Syndrome

  • Marfan syndrome involves abnormal connective tissue due to alterations in the gene Fibrillin-1. Symptoms include tall height and long limbs.
  • National Marfan Foundation



Publication date: September 2012
Review date: September 2015