What are the other Names for this Condition? (Also known as/Synonyms)

• Familial Spontaneous Pneumothorax
• Spontaneous Pneumothorax

What is Primary Spontaneous Pneumothorax? (Definition/Background Information)

• Primary Spontaneous Pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung
• It is called primary because it occurs in the absence of lung disease, such as emphysema, and is spontaneous because the pneumothorax was not caused by an injury such as a rib fracture
• Primary Spontaneous Pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. This air creates pressure on the lung and can lead to its collapse. Symptoms may include chest pain on the side of the collapsed lung and shortness of breath
• The blebs that lead the condition may be present in an individual's lung (or lungs) for a long time before they rupture. A change in air pressure or a very sudden deep breath may cause a rupture to occur. In most cases, there are no prior signs of illness. Once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent
• In rare cases, the condition can be caused by mutations in the FLCN gene. In these cases, the condition follows an autosomal dominant pattern of inheritance
• In addition, several genetic disorders have been linked to Primary Spontaneous Pneumothorax, including Marfan syndrome, homocystinuria, and Birt-Hogg-Dube syndrome

(Source: Primary Spontaneous Pneumothorax; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Primary Spontaneous Pneumothorax? (Age and Sex Distribution)

• Primary Spontaneous Pneumothorax is a rare disorder. The presentation of symptoms may occur at all ages
• Both males and females may be affected. However, the condition is more common in males
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Primary Spontaneous Pneumothorax? (Predisposing Factors)

• A positive family history may be an important risk factor, since Primary Spontaneous Pneumothorax can be inherited
• Additional risk factors include pre-existing conditions such as:
• Marfan syndrome
• Homocystinuria
• Birt-Hogg-Dube syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Primary Spontaneous Pneumothorax? (Etiology)

• Primary Spontaneous Pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space
• This air creates pressure on the lung and can lead to its collapse.

(Source: Primary Spontaneous Pneumothorax; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

• Mutation(s) in FLCN gene can pre-dispose an individual to Primary Spontaneous Pneumothorax, in some rare cases
• The familial type is inherited in an autosomal dominant manner

Autosomal dominant inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

• In addition, certain pre-existing conditions, such as Marfan syndrome, homocystinuria or Birt-Hogg-Dube syndrome, have been associated with Primary Spontaneous Pneumothorax

What are the Signs and Symptoms of Primary Spontaneous Pneumothorax?

The signs and symptoms of Primary Spontaneous Pneumothorax may vary among affected individuals in type and severity, and may include:

• Chest pain
• Shortness of breath

How is Primary Spontaneous Pneumothorax Diagnosed?

Primary Spontaneous Pneumothorax is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests, including arterial blood analysis
• Imaging studies, such as a chest X-ray
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Primary Spontaneous Pneumothorax?

The complications of Primary Spontaneous Pneumothorax may include:

• Extreme difficulty in breathing
• Hypotension or low blood pressure
• Progression to tension pneumothorax (air build-up in lungs puts pressure on the heart and the undamaged lung)
• Lung failure
• Recurrence of the condition

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Primary Spontaneous Pneumothorax Treated?

The treatment for Primary Spontaneous Pneumothorax may include the following:

• Thoracotomy to relieve breathing distress
• Oxygen supplementation to ease breathing

How can Primary Spontaneous Pneumothorax be Prevented?

Presently, Primary Spontaneous Pneumothorax is not preventable. Also, at the present time, no guidelines or methods are available for its prevention.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Primary Spontaneous Pneumothorax? (Outcomes/Resolutions)

• The prognosis of Primary Spontaneous Pneumothorax is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Primary Spontaneous Pneumothorax:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/