Genetics of Familial Pulmonary Fibrosis

The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members.  For more information, please refer to the genetic counseling program page for details on meeting with a qualified genetic counselor to discuss your own personal genetic risk.

Familial Pulmonary Fibrosis is a Complex Disease 

In complex diseases, like FPF, both genetic predisposition and environmental factors contribute to causing disease.
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FPF follows a model of a complex disease.  Complex diseases are likely a combination of a genetic predisposition and an environmental trigger.  Many diseases such as heart disease or cancer that tend to run in families follow this model.  A genetic predisposition may make a person vulnerable to developing a disease, but it may take an environmental exposure to actually cause the disease to appear.  This could be due to known or unknown environmental triggers or lifestyle choices.  In fact, it is known from previous studies that cigarette smoking increases the risk of developing idiopathic interstitial pneumonia in families with FPF.  There could be other genes that have protective or negative effects on the lungs, which can be disturbed by environmental triggers. More research is needed on complex disease, especially with apparent hereditary factors.  Thus far, there are several genes that have sequence changes associated with FPF. 


Cigarette smoking within families with pulmonary fibrosis is a major risk factor for developing disease.