Disease & Diagnosis
Learning about IPF
Idiopathic Pulmonary Fibrosis (IPF) is a lung disease that is progressive and has no cure. In many cases this disease runs in families but most often occurs in healthy individuals without a family history.
IPF is often misdiagnosed at first
Because it is rare and can run in families, it is often misdiagnosed and is diagnosed in the advanced stages. IPF limits your ability to breathe. It robs people of their ability to enjoy even simple activities like walking, eating or playing with their grandchildren. It is progressive and relentless.
We’re working to stop IPF
We are part of an international team of scientists and physicians working to stop IPF. We have made progress in identifying its causes, but more work is needed.
What does IPF do?
IPF causes scarring of the lungs that leads to difficulty breathing and decreased oxygen to the body.
Is pulmonary fibrosis genetic?
The answer is yes, in part. There are mutations that have an extremely high risk (the genetic term is highly penetrant) of causing pulmonary fibrosis. Example of these are rare, highly penetrant mutations in the telomerase genes (TERT, TERC, RTEL) and surfactant protein genes (SFTPC), but these mutations are exceedingly rare and are not the genetic basis of most case of IPF. The genetic basis of IPF is usually due to more common genetic variants in genes such as MUC5B, DSP, TERT) that have a more modest effect (less penetrant). Additionally, even in families with multiple family members with IPF, the environment plays a role. For example, siblings of affected family members who have a history of cigarette smoking are additional risk of developing pulmonary fibrosis due to the combined effect of genetic risk and cigarette smoking. These environmental risk factors are less well understood.
Is pulmonary fibrosis caused by environmental exposures?
Yes. Pulmonary fibrosis can be caused by many environmental inhalation exposures such as asbestos, silicates, and organic material such as exposure to birds, grain dusts, and molds. It is likely that genetics also plays a role in these environmental exposures leading to pulmonary fibrosis since pulmonary fibrosis develops only in a minority of individuals exposed to these agents. Again, the interaction of genetic risk and these environmental exposures is poorly understood.
Why have some people’s genes changed in a way that makes them more likely to get IPF?
We think, but do not know for sure, that the MUC5B variation may have protected young people a long time ago from getting a serious (probably infectious) disease. Sometimes genes change in a way that provide protective early in life, but cause problems later in life. For example, people with gene changes related to sickle cell anemia are protected from malaria.
If my parent or sibling has IPF, does that mean I will get IPF?
Possibly, but not with certainty. The genetics of familial interstitial pneumonia ( two or more family members with IPF or one of the other idiopathic interstitial pneumonias) is that of autosomal dominant with reduced penetrance. That is, while a genetic variant is passed from parent to child, it is not sufficient to cause disease. Another “second hit or event” must occur. More investigation is needed to determine what are the “second hits”.
What are symptoms of IPF?
How is IPF diagnosed?
Is there a cure for IPF?
There is currently no cure for IPF. Two treatments for IPF were recently approved by the FDA and they have been shown to slow the decline of lung function in people with IPF. We think that curing IPF will involve early diagnosis before the lung is irreversibly scarred, and treatments that are directed at the genetic causes of IPF.
The University of Colorado IPF team is connecting the dots to a cure.
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Introductory articles about IPF
Click below to read research papers about IPF Disease
How Can I Help?
Sign up to take part in our study. You are eligible to participate if you have IPF or if you have family members with the disease. By comparing your DNA with thousands of other participants, we can start to identify the genetic markers of the disease. Your participation can help lead to early diagnosis and could even save future members of your own family from Idiopathic Pulmonary Fibrosis.
For more information on participation call us at (303) 724-8569.