Gene test & haemochromatosis
Posted , 3 users are following.
Hi all,
after diagnosis of cirrhosis, ferritin test was 1932, transferrin saturation 89%. other bloods out of the ordinary were creatinine 58, bilirubin 76, ALP 245, ALT 65, albumin 31 platelet 42 INR1.6. antitripsyn level was down in another test. i was previously a heavy drinker but stopped completely in february. i exercise and eat relatively healthily but i'm getting increasing fatigued and sore and stiff, joints and swollen feet ankles. my first genetic haemochromatosis results got lost in the system. they've been sent to be done gain and i have a consultant's phone appointment in mid July. i can't seem to get any information or advice until he has a full diagnosis, which i understand, and i realise the NHS is busy right now but i'm feeling more and more exhausted despite trying to keep active and i'm not sure what's physical and what's psychosamatic. without holding anyone clinically responsible, please could someone here give me some indication of what's going on and what i should expect? thanks, Tony
0 likes, 7 replies
jax15282 tony69713
Posted
I am speechless...You have been positively diagnosed with cirrhosis and nothing is being done? What tests did you have to result in diagnosis of cirrhosis?
tony69713 jax15282
Posted
thanks for the reoly. i've had ultrasound and ct scans.
sheryl37154 tony69713
Edited
I am homozygous C282Y diagnosed 22 years ago after 9 years of symptoms. Both my husband and son have haemochromatosis. The fatigue and body pain was incredible. Luckily I was going through a prolonged dry period and did not have liver problems. My hips died and broke up though and had to be replaced.
I have maintained a diet of no sugar foods and no starchy carbs. Starchy carbs are potatoes, breads, grains, pasta (sob!), rice, pies, pastries, etc. Starchy carbs convert to sugar and go straight to the liver. Main meals are basically meat and green vegs. It was hard to find out what to eat instead of bread (like sandwiches for lunch) but as long as I have some sort of protein, turkey, eggs, cheese, and left over greens, or salad, it works. You could try to find the most seediest bread with the least carbs if you feel deprived without some. Protein foods for breakfast too.
Find some vitamin/mineral supplements that don't contain iron. Omega 3 capsules can help with joint pain. Vit D is very important as well as Vit B12. If you can't get these tested in the short term, find a practitioner's brand of Vit D3 forte drops - I take 4-6 drops per day. Vit B12 is most effective as an enzyme injection, if you can manage it. Keep moving to keep your joints 'lubricated'.
Some others might have some other beneficial tips for you to try while you are waiting, even if just to feel proactive.
Let us know how you go.
tony69713 sheryl37154
Posted
thanks for the reply, Sheryl. I appreciate your input and i'll follow up your advice on vitamins.
Unfortunately the diet advice is one of the areas that gets confusing for me. While everyone agrees with lots of protein, haemochromatosis dietary advice seems to be to avoid starchy carbs, cirrhosis dietary advice from the British Liver Trust is to eat lots of starchy carbs.
The joint pain can be pretty bad sometimes. It's why I went to the Dr in the first place (i thought it was a sports injury after i took up boxing circuits). at the moment, it's bad when I first stand up but i can get everything moving again through lots of stretching and exercise.
The fatigue seems to be getting more severe. I find I can do things but I need a nap afterwards. i messed up an interview this week when i couldn't remember most of the stuff i prepared. i read last night after posting on here that 'brain fog' is a common symptom but some of the effects described seem so vague and i don't want to make excuses for myself.
Sorry to sound off, i just feel like everything is on hold and i don't like not knowing what's happening to me or what might happen in future. Does that make sense to anyone who has been through this? Do i just have to develop a 'whatever will be' attitude and accept that i don't have any power or influence to control it? Am i just being melodramatic?
Anyway, thanks for reading this. I'm lucky have some very supportive people around me but i don't want to burden them with my (occasional) negative thoughts when they are trying so hard to be helpful.
Hope that makes sense.
Tony
sheryl37154 tony69713
Edited
I know how you feel. I went through severe fatigue (staggering and slurring) and body pain, left side chest pain, foggy brain (memory stuffed) for 9 years without a hint of a diagnosis. That was until my hips broke up. It was pre google too, so I could not search out answers for myself. I was highly motivated with my venesections (more, more) but I hate to say this, not all problems went away.
Now you are stuck in Covid mode, delaying progress. I do think you have to give yourself up to that as there is nothing you can do (except curse Boris or whomever is your leader for delaying action on Covid). Try some osteo-panadol for pain, and any energy giving foods and supplements for fatigue. Take the osteo-panadol before activity. I found that eating lightly was better than a full meal whereupon I would feel like a truck hit me while my blood supply drained from my limbs and went into digestion mode.
I just googled cirrohosis of the liver and diet, which confirmed to me that laying off starchy carbs was the way to go. Sugar/starchy carbs are responsible for fatty liver which when untreated and caused by something not benign, worsens to cirrhosis. I just looked at British Liver Trust advice regarding diet, and it says "a well-balanced diet is one that is low in fat, sugar and salt, and high in fibre. " You will discover for yourself whether you feel slower and heavier after eating certain foods.
Starchy carbs convert to sugar. Lots of other vegetables like greens, cauli, etc are not starchy but are classed as carbs, so they are the ones we should eat a lot of. I am also careful about how much fruit I eat because of its sugar content, but if they are full of fibre they are the better ones.
Keep in mind that cirrhosis of the liver is repairable, and haemochromatosis is not a death sentence. You just have to get through this frustrating Covid stage, then the start of treatment, because there will be treatment. Also keep in mind that if your situation was dire, the health system would be pushing you through despite Covid.
I know it is not easy, but keep paddling. Reduce your exercise to walking or something light that you can manage, drink lots of water.
PS: Did you do your interview via Facetime or similar, assuming that you are social isolating? In Australia, we were in lockdown, businesses shut, unless it was possible to work at home, only essential outings for shopping, exercise was possible but we were not allowed to stop and sit. No cafes, restaurants, bars allowed to open except for takeaway - but no where to sit. There are some lifting of SOME restrictions as from 15 May. I put off my venesection that was due 19/4 rather than go to oncology where I have mine done.
jax15282 tony69713
Edited
So very sorry to hear of your diagnosis. Most of us on this site have genetic hemochromatosis and have personal experience with that, the other is beyond my scope for sure.
The genetic test will determine if your elevated ferritin and cirrhosis might be caused by genetic hemochromatosis ( also referred to as primary, classic or hereditary. ) If this is the case aggressive therapeutic phlebotomy can improve your liver health. However if your cirrhosis is causing the elevated ferritin you would have secondary hemochromatosis and I am not sure what the treatment protocol is.
But you have certainly taken a most important and very difficult first step of quitting drinking...I commend you.
July certainly sounds like a far way off when you are waiting for such dire news. Just take care of your yourself according to the best info you have. . One fact that is hopeful is that although your ferritin level sounds very high to you...it is not nearly as high as numbers often associated with liver damage. A friend, the only other person I know with hemochromatosis, was very ill and had arthritic problems for a significant time before she was finally diagnosed with genetic hemochromatosis....it had caused cirrohsis and her ferritin level was 3500. She has undergone aggressive phlebotomy treatment over an extended period of time and last I heard( Apr) her ferritin was under 300. She is well and her liver health has improved...the arthritis, no.
What date was your second blood sample taken for genetic testing?
tony69713
Posted
So here's the update. Physical symptoms got worse (i've deteriorated from writing a book to being unable to concentrate enough to read a chapter of one) and with no success at chasing gene result I returned to my GP who sent me for new blood tests. Ferritin now 2005, ALP 320, other bloods the same as before or slightly improved. Transferrin Saturation unfortunately not taken but 89% on previous. i asked about venesection as it seems whatever the cause, the treatment is essentially the same and i was scared that delay might cause further permanent damage, GP agreed to chase up gene test and asked if i'd been booked for a biopsy. Consultant then phoned, sounding miffed i was resorting to GP and said gene test was negative (c282y hetero, h63d neg) ruling out most common HH type. He hadn't seen new tests but said Ferritin wasn't nec iron-related and most likely a result of cirrhosis but he wanted to do another test that was missed because of a problem with the sample. i asked about previous trans sat % and he said that was the missing result that he wanted to get. i told him i had it and it was 89, he said he wasn't aware I'd ever had one, then as we were talking he found it in a different set of records and on that basis, yes, there was an iron issue and he was prepared to refer me to haematology. it seems my records are split over two systems (Brighton & Eastbourne) so I need to remind everyone to look up both when dealing with them.