Early detection of advancing asymptomatic liver disease is a vital public health goal but not what medicine does, don't screen they say

[nash2]

Fibrosis is commonly silent. It advances year by year and gradually destroys the liver’s ability to do all of the things we depend on for life. Many patients first learn of disease when told that they have cirrhosis, an incurable life-threatening condition.

Fortunately, technology has progressed and today we have the ability to detect advancing fibrosis before it causes problems. This is a real blessing to the 20 million who have no idea that they have a vital organ at risk which might kill them.

Assuming, of course, that they have access to the testing.. That becomes a more difficult question than you might expect. Testing for wellness is complex although we do it with tools like mammography and colonoscopy. The problem for medicine is that they have not therapy even if we do detect the disease early so testing is of little value and may be harmful. The problem is that there is therapy, in the form of nutrition and lifestyle changes, but that isn’t squarely in the sweet spot of medical care so screening is not advocated.

An unfortunate consequence of not screening is that the potential pool of clinical trial candidates, upon which future therapy depends, is limited which further harms patients by delaying therapy.

The foundation’s answer to both challenges is to deploy screening for high-risk patients on a private pay basis so that the service can be offered before people become ill.

This strategy serves the patients by warning people of their risk and potentially diverting them toward safer habits. It also develops a new pool of potential clinical trial participants needed by the drug industry so that clinical therapies can be developed more quickly. Both of these effects will save lives and prevent much misery, death, and expense. It is a win/win/win proposition.

[memlilt]

You are doing life saving work- dont grow discouraged. You are changing the mindset of a notorious slow acting group and it is not easy. Your knowledge and advice here has helped save lives! Keep going...you will make a difference!

[flo1]

I have a metabolic disease that is genetically inherited, if effect our Liver and Lungs, the liver is primary. Alpha One Antitrypsin Deficiency is a stealth killer disease and they refuse to birth test us. Most likely due to the same reasons, its a disgrace and yes we can lose 2/3rds of the liver before we get symptoms, the lungs are 1/3, without warning we are left with nothing but hope and a great deal of willpower to fight for our young lives. Most of us are gravely ill by the time we are diagnosed and the genetic disease is not rare just rarely diagnosed! 1 person in every 2, 500 babies born in the West has severe deficiency..Nobody wants to report the story or indeed go 'public' I was diagnosed with end-stage emphysema aged 46 I fought to stay alive after a lifetime of great health a big shock! I am doing okay today and keep fighting for my right to be here, this is a sister disease of Cystic Fibrosis. My Liver is enlarged and fatty due to the back up of the protein we cannot expel, which in turn cause deficiency in the lungs, and leaves them without valuable protection. It's a vile disease and everyone should be birth tested. There is no cure but there are a great many of us keeping hope and battling it. It's a shocking sick world when people are ruled out of screening something I hope I live long enough to see change for AATD..The number of lives that could be saved and the thousands of us that suffer could become distant memory's..I hope so, Big Pharma believes in the power of keeping people sick I believe we need to see that change and start to progress into screening and saving .. I totally agree with you!

[nash2 Partner in reply to flo1]

Antitrypsin is a really silent killer that can be identified early but is almost never tested for. Thanks for the nice overview of the problem. I bet you helped someone today by taking the time to explain. If you have a nagging illness that no one can explain you might ask to be tested. It is a simple blood test. I've just been with a lot of liver researchers and they are working very hard to find treatments. They succeeded with Hep C and do have their sites set on the broad range of liver disease but it is very difficult. One of the biggest problems coming is that they need to run clinical trials but because they don't screen there aren't enough diagnosed patients. Our goal is to change that with our screening project.

[flo1]

Thanks Nash, yes indeed it is. I was very healthy until 45 and then started to develop a cough, next thing breathlessness, onto next weight loss (severe) by that time I hit 46. I thought I had lung cancer, I was given 2 yrs to live aged 47 as I was end-stage emphysema ..with a condition called AATD nobody heard of it and to date very few still know about or deal with those poor people unfortunate enough to inherit this. I run 2 support groups to help out and do my bit I fought long and hard to come back from the abyss, stopped smoking my lung function moved up I have been stable 9 yrs, with hard work and dedication to a regime of health and exercise not everyone has that drive and determination to survive but if we don't we die its that simple there is no cure, drinking went when liver was found enlarged 6 yrs back..I believe we have a human right to birth testing and many poor young people today would be alive if they did this, I was born 2 yrs before it was discovered in 1963 so I had no chance ..but those today do. Simple blood test and you are aware of lifestyle choices all preventable and go towards our best chance of survival we have as yet there is no cure.