Spontaneous pneumothoraces not related to BHD syndrome

Sporadic lung collapse may also occur in individuals not affected by BHD syndrome. Lung collapse is more likely due to the following risk factors:

  • 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.

 Hereditary conditions other than BHD syndrome may also cause spontaneous pneumothorax, such as:

Alpha-1 Antitrypsin deficiency

  • Alpha-1 Antitrypsin is a protein in the body which protects the lungs. 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

Lymphangioleiomyomatosis (LAM)

  • LAM is a rare disease which mainly affects women. LAM patients develop lung cysts which can lead to pneumothorax.
  • LAM Foundation

Langerhans cell histiocytosis (LCH)

Marfan Syndrome

  • Marfan syndrome is a condition where the body’s connective tissue is abnormal. This can affect many parts of the body.
  • National Marfan Foundation

Tuberous Sclerosis (TSC)