Familial PF & Genetic Links

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    • #11054

      Hi Everyone,

      After being diagnosed with IPF at the age of 28, I was in disbelief because there was no one in my family who had a history (to my knowledge) of any type of lung disease, let alone PF. This is why my diagnosis was idiopathic because there is no known genetic or familial link for me. That being said, I know some people have been told there is a genetic or family link and I’m thinking even of the future generations of my family and concerned that maybe there is a link or one could develop that hasn’t, and likely won’t, be investigated.

      For those of you who have been told there is a genetic or familial link to your PF diagnosis, were you given any criteria that determined this (ie. a number of family members that had to be diagnosed with the disease, or what familial ‘chain’ make them find the link, ie. all females on the maternal side of your family, just as an example) ? I haven’t done a formal literature search on this yet, so forgive me for just outright asking instead of doing the research. I’d also love it if anyone knew of research that existed out there on this topic that you could share with this forum!

      Thanks in advance!
      Charlene.

    • #11067
      Nanzy
      Participant

      Even though my mother also had IPF, they don’t believe mine is familial.  I don’t get that, but my siblings are all aware of the disease and have informed their physicians.  They do insist on X-rays when experiencing lingering coughing, etc.  they are being proactive.

      One of my theories is environmental.  My mom was German, born in the early 40’s during the war.  There is no telling what was in the air.  I have always had issues after dealing with plant mulch for my flower beds.  It would lead to prolonged time periods of coughing and irritation.  Just my thoughts!!

    • #11068
      Nanzy
      Participant

      Even though my mother also had IPF, they don’t believe mine is familial.  I don’t get that, but my siblings are all aware of the disease and have informed their physicians.  They do insist on X-rays when experiencing lingering coughing, etc.  they are being proactive.

      One of my theories is environmental.  My mom was German, born in the early 40’s during the war.  There is no telling what was in the air.  I have always had issues after dealing with plant mulch for my flower beds.  It would lead to prolonged time periods of coughing and irritation.  Just my thoughts!!

      • #11074

        Hi Nanzy,

        Thank you so much for sharing – this is such an interesting topic for me. So, did your Doctor totally rule out that there could be a genetic component to your IPF? I guess they must if they have diagnosed your PF as idiopathic. I’m really glad that your siblings are aware of it though, and that they are being proactive with insisting x-rays etc. How many siblings do you have? 🙂

        I think your theory makes a lot of sense. As you said, who knows what was in the air during the war days unfortunately. When I was visiting the 9/11 memorial museum in NYC this past fall, I was in the documentary room and one video was talking about the mental, emotional and physical impact of the many first responders that responded to the collapsing towers that day. Unfortunately, they mentioned how many of them now have chronic lung diseases, PF being one of them, most likely due to all the toxic fumes, dust and debris that was inhaled in the initial rescues. I thought that was interesting, very sad of course but never even thought about that type of an impact, and I think the same thing would be similar (or I would imagine it would be) during times of war.

        When you have the response to the plant mulch, of coughing and irritation, does anything in particular help you? Do you use a puffer?

        Thanks again for sharing, and chat soon.
        Charlene

    • #11123
      Luke
      Participant

      Hi Charlene,

      As I  understand it (please note I am <span style=”text-decoration: underline;”>not</span> a doctor/researcher), familial IPF is relatively rare, although I recently read an article that said it might be a cause of as many as 20% of cases.

      Research has identified several genes that likely contribute to IPF, but even in families who carry such genes, the ultimate cause is likely a combination of genetics and environmental factors. There is ongoing research in Australia (that my family is involved in) and the US that aims to identify more familial IPF genes as well.

      My family has lost individuals (men and women) from several generations to IPF, so we refer to it as familial, but I don’t know of any criteria that officially makes it so. IPF is also difficult to diagnose and misdiagnoses in the past were common, so it can be hard to track familial IPF too far back. As far as I know there is also no genetic test available that can determine whether any of us carry a known IPF causing/contributing gene.

      My family appears to possess varying intensities of IPF progression. My father passed less than two years after diagnosis but two of his cousins with IPF have survived nearly 15+ years and are still around.

      I hope this helps.

      Cheers,

      Luke

    • #11126

      Hi Luke,

      Thanks so much for joining the PF forums and for contributing to this topic! I find the concept of familial PF so interesting, and as you say there isn’t much research out there to link PF solely to genetic factors because it is rare. Although, I am hearing of more and more people sharing their stories through social media platforms where several people in their family all have had PF. Some have shared that their Doctors say there is a genetic link, but they aren’t sure what it is or why it occurred, and other people say that their Doctors don’t believe there is a genetic link. I wish there was some type of algorithm or criteria that clearly helped us (and Physicians) identify familial PF. I guess I am so interested in this because I have IPF and to our knowledge, there is no genetic link because no one in my immediate or extended family has any type of lung disease, and I fear that I’ve started one. I know there is nothing I can do about it, and I know that there is no known environmental or genetic factor to the development of my disease, but I’d love to learn more about it for the future generations in my family to be aware of, just in case. I am so glad to hear about the research occurring in Australia, where is it being conducted? I love Australia and have visited 3 times in the past 18 months.

      Thank you for sharing the details of your family, although I am so sorry to hear of so many losses from IPF. That must have made your diagnosis even more difficult. Was it something you were watching for/aware of the symptoms that might indicate IPF? I was talking to a wonderful woman on the forums recently who said due to her Mom’s experience with PF, she was diagnosed early due to awareness and her disease if being managed very well. Also I wanted to note that the family members of yours who have been around for 15+ year with this diagnosis gives me so much hope and I hope others read that part of your post as well! Thank you for sharing.

      Cheers,
      Charlene

    • #11129

      Hi Everyone,

      With your wonderful contributions to this topic re: familial pulmonary fibrosis (FPF), I wanted to do some more research and came across an interesting summary of one medical center (National Jewish Health) that released a-sort-of algorithm regarding FPF. Curious to hear your thoughts, or if any of your physicians have alluded to something similar? I was surprised to read that it can be considered FPF when only “two or more primary biological” family members had the disease. The image below is a screen caption of the website, and it isn’t a credible research study but it is published on a medical facilities website….

      Charlene

    • #11453
      Af Turner
      Participant

      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.

      • #11463

        Hi Af,

        Thank you so much for joining the PF forums and sharing your contributions to this thread. This is definitely an area I want to learn about as much as I can and your comments have really helped me. Do you know if any Canadian facilities are conducting research of similar nature? I am located in Canada and although I am confident our physicians will benefit from the conclusions that research at National Jewish and Vanderbilt are doing, it would also be neat to follow Canadian research too. Perhaps this is a question for the Canadian Pulmonary Fibrosis Foundation folks 🙂

        I find your comments about the scarring distribution so interesting, particularly that if the distribution takes place in the upper lobes then it appears to be familial. Do you know if these findings are persistent enough yet to lead doctors in diagnosing familial PF earlier than they would have otherwise? More specifically, if they note scarring distribution in the upper lobes, I wonder if they consider PF of a familial/genetic aetiology faster than in previous years. Would be interesting to know, but then again, it may just be of interest to me as I have such passion for research and evidence-based literature guiding practice, especially in healthcare!

        I don’t know what I would have done if I suspected a genetic link for my PF, in terms of seeking out more testing or not. Since I am the only one known to have IPF in my family (we have other ailments in my family, but to my knowledge, absolutely no history of lung diseases) and since I am 30, diagnosed at 28, I’d love to find if there were any links so that future generations of my family could be aware of it.

        Thank you for all the research you’re doing on behalf of us patient Af, and please know how grateful we are to people like you!

        Sincerely,
        Charlene

    • #11467
      gil
      Participant

      Af,

      I too hope genetic information will lead to better treatment outcomes, and hopefully in my lifetime.  Thanks for the information, I did not know IPF runs in families.

      ” It’s estimated that about 10% of PF is clearly familial”

      Even if this is so, it is likely that environmental factors are what triggers the fibrosis.  We may carry a genetic predisposition and it won’t be expressed until it interacts with environmental factors.  A good question is what are the genetic factors that inhibit IPF, cancer, diabetes, drug addiction, etc….  There are people who smoke and drink and yet live a long time.  There is something in their genetics which inhibits gene expression of cancer and other similar deceases.

       

       

       

      • #11482

        Hey Gil,

        This is a really interesting perspective, and excellent questions! You’re right, there are so many things that we could be predisposed to as a result of our genetics and family history, although sometimes those things don’t evolve in people. I wonder: is this because they don’t interact with environmental triggers that might otherwise cause the diseases to develop? Who knows, but excellent questions. I really hope Af sees them and is able to respond, her perspectives and knowledge (Im assuming…) around research are very helpful to know about too. I’m so thankful for the people on this forum!

        I hope you’re having a great day.
        Charlene

        • #11493
          Af Turner
          Participant

          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!

        • #11500

          Hi Af,

          Thank you so much for your comments back to us, it is exciting to be corresponding with someone who is researching this disease and as patients, we’re so grateful to you and your team!

          I can only imagine how complex the interaction(s) between environmental factors and genetics is, but I really feel researchers are on the brink of discovering knowledge that has the potential to be transformative in so many areas of medicine. I can’t get enough of reading about stem cell therapy and all the potentials that it has to help patients of many different diseases. Also Af, I wanted to ask you… have you read the article that another member of the forums posted about vitamin D deficiency and lung fibrosis? It’s really interesting that so many of us on the forums have been diagnosed with a vitamin D deficiency and have IPF/PF. The link is below if you’re interested (although no pressure to read it, as I know your interest lies with familial / genetic PF) : https://www.nature.com/articles/s41598-017-03474-6

          I think it is really interesting to say the least!

          Also, yes I was told how rare it is to have definitive diagnosis of IPF at my age. I actually was also told that they suspected it “might” be PF when I was first admitted for low oxygen saturations and shortness of breath. This was at the very beginning stages of my thinking something was wrong, but my diagnosis came 10 months later because they kept feeling like I was too young to have IPF. I unfortunately had quite a few issues with my lungs as a child – suspected asthma where I needed a lot of ventolin, bronchitis, etc. Perhaps this contributed to it? Not sure. My Doctors aren’t spending a lot of time trying to figure out how I came down with the disease, more about monitoring me to ensure I remain stable as long as possible.

          So interesting about the woman you referenced. May I ask how she is doing now? If you can’t tell me, I understand, I just am interested in how others’ my age (or similar to my age) are fairing with this disease…. I know there are some out there! Have you read the story about a fellow Canadian Helene Campbell? She developed PF in her early 20s.

          Wow, thanks so much for providing Dr. Fell’s name. I may consider this in future and I appreciate you asking your lead researcher about this Af.

          Looking forward to continuing to share discussions with you.

          Sincerely,
          Charlene

      • #11494
        Af Turner
        Participant

        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.

         

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