Calling all cryptogenics – again

I was diagnosed with cirrhosis of the liver 11 years ago at age 49, following physical and ultrasound examinations and endoscopy which revealed varices in my oesophagus, confirmed by liver biopsy.

I have never been a heavy drinker, nor suffered from Hepatitis or diabetes but have a history of low blood platelet count which suggests that some unknown auto-immune response may be connected with my disease. Therefore, I fall into the category of ‘cryptogenic’ (i.e. unknown cause) which I have been told represents about 10% of those with liver disease.

The lack of information for those with cryptogenic liver disease is woeful and it has only been through my persistent questioning of my consultant that I have learnt about it. Those who have attributable cause of their condition can often take specific measures that will either eliminate or stabilise their symptoms: cryptogenic sufferers do not have this option available to them.

Given the extent of liver disease, cryptogenics represent a significant number of people. The British Liver Trust hope to address this lack of information soon, but if there are any out there who would like to share their experiences, please reply to this post.

Thank you.

12 Replies

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  • You have set a challenge that may be self-limiting, given what is known about cryptogenic illnesses - i.e. not very much (dictionary definition = "a disease of obscure or uncertain origin". Unfortunately, most medical research is conducted by pharmacy companies who want to sell drugs. Something that is particularly challenging and possibly multi-faceted is not something that is going to be attractive to them in the absence of a huge market for the drugs they may or may not develop.

    Having an attributable cause does not necessarily help. My cirrhosis and subsequent HCC had its origins in (among other things) genetic haemochromatosis, which affects about 5% or the population of northern Europe. Invariably, this is a condition that is diagnosed late. When it is diagnosed, it is easy to treat but the damage has already been done. This seems to be where you are. Knowing the cause of your symptoms might give little satisfaction, but it is not likely to determine subsequent treatment. I can understand why you would be curious, however.

  • Mike,

    Thank you again for replying. I went through a long phase of wanting to find out what the cause of my disease was in order to either limit or reverse its effects. I now recognise and accept that the damage is irreversible and will have to live with its consequences either with or without transplant.

    I accept that drug-company sponsored research is unlikely in this needle in a haystack scenario, but am encouraged that new uses for existing drugs are being found such as that for the treatment of Multiple Sclerosis recently featured in the news.

    However, I am curious and would like to offer advice to those (few that there are) who have a similar diagnosis.

    However, I am curious and would like to offer advice to those (few that there are) who have a similar diagnosis.

  • What's the advice?

  • My current advice is:

    If you want more information talk to your consultant or GP and ask questions.

    Encourage those who have more information (for example, the British Liver Trust) to publish it more widely.

    Keep as fit as possible in the event that a transplant might be required at some stage.

    Don't ignore symptoms, but at the same time time don't let them dominate your life.

  • Great advice and not necessarily reserved for just us cryptogenic's.

    However perhaps with cryptogenic, even more so than other causes of cirrhosis, there is a real uncertainty about what the future holds. I went 15 years with cirrhosis, apparently bloods and ultrasound showed stable. Between 6 monthly visits to the consultants it flared up and I found myself having a transplant.

  • Joe,

    Thank you for your response.

    If you are willing, can you tell me at what age you had your transplant, how long were you on the waiting list and how are you post-transplant? Also, were there any other health factors that affected your liver disease?

  • I was diagnosed at 26yrs, and had a transplant 14 months ago at 42yrs. I'm doing well, and feel better than I can ever remember. As is also true for many others, there's a creep of symptoms that are so steady they become the new normal. So it wasn't until after transplant I realised how unwell I'd been, both physically and mentaly.

    I also have Coeliac disease which is an autoimmune disease, and does suggest that that might have something to do with the liver.

  • Good advice whatever the cause of the liver disease, and as "joe" says, once you get to the cirrhosis stage the symptoms and side effects are often similar whatever the cause.

    I wouldn't think many GPs know much about cryptogenic though, for example they know little about autoimmune and that's probably slightly more common. I'm not blaming GPS, they just don't have a lot of allocated time in their training for all the weird and wonderful rare conditions they might come up against in practice.

    Peer reviewed research documents online are a good resource, if you can understand the "med speak".

  • Thank you for your reply.

    Can you suggest where I might find peer-reviewed research documents online?

  • I find PubMed good.

    If you "Google" PubMed cryptogenic liver you get quite a few hits, such as ncbi.nlm.nih.gov/pubmed/127...

  • As Mike says it's very much a numbers game. I actually thought it was less than 10% though, I could be wrong. As the cause is unknown, there will be many different causes for cryptogenic cirrhosis, and until fairy recently many of the hepititus's came under that umbrella.

    It's not really that there is one catch all cause to research.

    The treatment however for cirrhosis is pretty much the same whatever the cause.

  • That is interesting, I have some cirrhosis of the liver and had a biopsy last November. They could not find any cause. There were some varices but nothing which seemed to bother them. I also have an enlarged spleen. I was informed that I am a child Pugh A category.

    I had a thyroid operation about 30 years ago which suggest it may have affected the auto immune system. I was never much of a drinker and have an appointment in February to see my liver consultant.

    Currently, I am on a course of chemo but not liver related so the liver is being monitored. The liver is functioning well but can be affected by the chemo. This will go back to normal once treatment is finished. They do regular weekly blood tests. Sometimes, my blood platelets are low due to the chemo and this can happen and picks up in time.

    Will see what the consultant says in February. I don't think I will be given any medication for the liver if they cannot find a cause.

    Perhaps I will be another cryotogenic statistic.

    Regards

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