Is it more in the DNA than we think?

[Timberman]

This is a question for the experts but even they need some data to go on so here is my point:

Reading the forum highlights a wide variation in starting point for COPD. There are some who have been diagnosed in their 40s (even 30s!) and others not until, like me they are in their 60s. It is also the case that some younger ones are so bad a lung transplant is available while others, like me, are still a way off that stage and so are very unlikely to make such surgery even vaguely cost effective.

It is accepted I think that family history plays a part and certainly in mine and my brother's case our mother died of bronchial pneumonia at 77 after COPD for many years and her mother died of bronch-pnue ascribed then to smoking but from what I recall of her I would suggest she would have been diagnosed today with COPD before that London smog-aggravated event. Both were heavy smokers as was I until 93 and my brother until more recently. My gran's sister died of respiratory failure in her 70s but NEVER smoked. Another sister in Canada who did smpke also died of respiratory failure.

So if it is in the genes which seems accepted to a degree and we can today have a DNA test is there value to the NHS/nation in screening some/all kids at an early age and using the results to keep them off ANY form of inhalation practice?

As they say these, days, just asking....

[2greys]

I recently posted an article that is pointing in that very direction,

healthunlocked.com/blf/post....

The DNA tests required to detect any predisposition to lung disease has just been developed. It will be years away yet, the research is going on now.

[Timberman in reply to 2greys]

That's even more exciting. But I think the screening could start anytime now?

[knitter]

My grandmother, mother, I and my daughters all suffered or still suffer from breathing problems.....I was the only one that ever smoked.

Maybe there is a genetic link, but there could be other factors too like infection , passive smoking, coal dust, nutrition, or allergies. Hopefully in the future answers will be found, especially as my grandaughter has eczema ....keeping my fingers crossed for her.

[Timberman in reply to knitter]

You are right about the environmental factors but it is still the case that all suffer those but only some get COPD.

[zorro1 in reply to knitter]

Hi Knitter Alpha 1 antitrypsin deficiency is caused by a genetic mutation and frequently leads to emphysema. Smoking and environmental polutants cause the damage to happen much much earlier and more severely. People who have COpd or liver issues running in their family should really be tested to see if they have the mutation. If you haven't had the test then it may be an idea to ask for it. Its a cheap blood test to check your levels of alpha 1. If they are low then they will do additional blood tests.

[Hidden]

That is an interesting post. I am the only one in my immediate family to have lung problems but then I am the only one who really smoked. So it looks like I have a genetic propensity to it but lifestyle choices has actually brought it on.

[Timberman in reply to Hidden]

I think our lifestye can bring it on; the question is are some more likely than others because of a genetic pre-disposition to COPD diseases?

[Hidden in reply to Timberman]

I think that is the case. They are finding more and more lung genes responsible for lung disease. I must have some bad ones, but also a few goods one too as I am only mild despite the amount I smoked and the length of time I did.

[Caspiana]

Hello Timberman .

It is an interesting point to consider. I have Rheumatoid Arthritis and a lung disease called Bronchiolitis Obliterans as a result of my autoimmune disease. My oldest sister also has Rheumatoid Arthritis and emphysema. I was not a smoker although as a teen I sometimes smoked on a night out. My sister did smoke although she has since given up the habit. Neither of us have been exposed to any kind of smog or smoke inhalation. My other sister has neither of these diseases. As of yet, there is no proof that these diseases are hereditary, yet it just seems so very odd that my sister and I both have similar conditions.

A very good question in my humble opinion.

Cas xx 🍁

[Timberman in reply to Caspiana]

Hi - sorry to hear of your double whammy! Have they tried a drug called methotrexate for you? It is pretty nasty and has to be used with care but I told by others that it can provide significant remission for rheumatoid arthritis sufferers. When they used it on me to destroy my immune system prior to a bone marrow transplant (leukaemia) a doctor did the usual questionnaire and asked if I had arthritic problems. I said I did, but fairly minor. He said "Oh well you won't see that again for a few years after this stuff." 12 years out and he is correct!

[Caspiana in reply to Timberman]

Hello. Yes, I have been on methotrexate for nine years now. And a drug called Remicade . No remission but I have good control at the moment . 😃

[zorro1]

Alpha 1 Antitrypsin Deficiency is caused by a mutation in the SERPINA1 gene on chromosome 14. The deficiency can cause early onset emphysema, liver damage, and patients can suffer from all kinds of autoimmune problems too. Even so there is a wide range of manifestations. I have one of the more severe deficiencies and am relatively well in my late 50s. Others with the same mutation need lung transplants in their 30s/40s. Babies with this can have liver problems with this deficiency and some need liver transplants as can some adults in later life. The gene editing process when available would be able to fix the mutation and save so many with this deficiency. Fingers crossed it happpens sooner rather than later!

[Timberman in reply to zorro1]

Interesting - thank you. Gene editing is a way off. My suggestion is that we should be screening at an early age and using the information to persuade the at risk group from harmful lifestyle activities, like smoking. They may even avoid certain industries - I was in print in the hot metal days and we worked, even in editorial in an atmosphere full of paper dust and metal fumes. Today the risk is from electomagentic activity (??) and ink toner dust!

[zorro1 in reply to Timberman]

I absolutely agree on the screening but doubt that will happen. 90 percent of people who carry the alpha 1mutated gene dont know that they do even though it's probably as common as cystic fibrosis. It's believed that 3 to 4 percent of all Copd patients have this deficiency, many others are misdiagnosed with asthma. If they found out that a genetic mutation was involved then there would be a big demand for the replacement therapy to limit their lung damage. NICE won't pay because it is too expensive even though much of Europe and the USA have been providing it for many years. In this country it is more cost effective to let people die in ignorance, sadly.