[Af Turner]

Hi Charlene – so glad you shared this; National Jewish has been at the forefront of PF genetic research and are true experts in the field; here at Vanderbilt we partner with them on this research and are tracking hundreds and hundreds and hundreds of families.  It’s estimated that about 10% of PF is clearly familial, and there can be some interesting differences.  For example, with IPF you’re usually seeing a scarring distribution in the lower lungs, so if an HRCT shows a predominantly upper lobe distribution you’re thinking it must be something else; but for reasons not yet clear, this unusual distribution is actually common with familial.

Some family members don’t wait for symptoms and choose to have regular HRCTs; others don’t want to know.  It’s such a huge decision with so few treatment options that genetic counseling is critical (often members of the same family will come to different conclusions on how they want to proceed).

My gut tells me that, like we’ve learned with so many cancers, genetic components are at play with all PF, not just clearly familial – and my fervent hope is that this will lead to better treatments as it has with so many cancers.

[Af Turner]

I asked our lead researcher here about whether there was a Familial PF study center that’s equivalent to National Jewish or Vanderbilt.  He said there is not, but anyone wanting to see a familial specialist who is unable to come to the U.S. can email Dr. Charlene Fell at Calgary – he said that she is the Canadian familial expert.

 

[Af Turner]

I completely agree.  Why are there coal miners who work 30 years in the mines with no fibrotic effects, while another can develop Black Lung within a few years?  There are very few diseases where genetics virtually “guarantees” a diagnosis (Huntington’s comes to mind), but genetics in most cases seems to simply “increase the odds”, while other factors, likely primarily environmental, appear to play an important part.  It is obviously a highly complex interaction which we are now still at the infant stages of understanding.

For example, Charlene, it’s very unusual for someone under age 40 to receive a definitive IPF finding when there is no family connection.  Usually, “unspecified interstitial lung disease of childhood” is a nondescript PF that does not look like IPF.

I’ve even had a patient who’s PF came on with her first menstrual cycle, and she also had a severe exacerbation after her child was born, so can there also be a hormone influence?  All very interesting questions!