Help with what’s next please
Posted , 5 users are following.
Hello everyone. I'm after some advice for my husband, who is 68. There's been something not right for ages. He's very lethargic/fatigued, suffers with skin complaints, mild confusion and memory loss.
He's had numerous blood tests including LFTs and the only tests that have come back abnormal are ferritin at 860 and transferrin at 60%. He has access to his online record which now says, suspect Haemochromatosis.
My query is, what should happen next? He's quite anxious and wants answers. It's always a wait for appointments at our doctors, so when we do go, we want to ask all the right questions. Thanks.
Edit: I've just remembered, his platelet count is low and urea is high, although neither result seemed to bother the GP. Perhaps these results are concerning, in light of the possible diagnosis?
0 likes, 16 replies
sheryl37154 VickySponge
Edited
Your dr's next step is to run a genetic test for genetic haemochromatosis. A ferritin level >300 and a TS% greater than 50 are definite markers for GH. Your gp might insist on a 2nd Iron Studies test in case the first was a fluke, or is required to get a genetic test.
Other blood tests to ask for include pituitary gland hormones. Gh is a hormone thief and your husband's testosterone is probably too low which also contributes to how he is feeling.
I have not heard of platelet count and urea being relevant to GH.
And educate yourselves about haemochromatosis. Contact your country's haemochromatosis organisation, read their website, ask for relevant booklets to be sent to you. Then you will be able to pin your dr down with informed questions.
Keep us informed with how you go.
tom_70042 VickySponge
Edited
Hi Vicky
i cant comment on his symptoms but with raised but with raised ferretin and a diagnosis of haemochromatosis then he should rightly be put on a series of venesections to get him down to about 100
this can take many months to achieve the average loss count is about 50 per session
you need to push this with the doctors the consultant will likely go for weekly of fortnightly sessions
its my experience and others here that GPs are not up to speed on our condition
venesections get easy after a while but uts was hard for me to start
try to get morning appointments he must have a huge breakfast and drink lots o water and rest after weekly sessions as i had left me totally fatigued
a must too is the check for any underlying infections this affects ferretin levels
id probably get a cat scan too if you are in the Uk its too long a wait on NHS private cost is £400 nothing to worry about but it can assure you of no infections in liver or kidneys
i found vs very hard but there is no reason why you should drastically change your diet some red meat is essential
this is a great forum and Sheryl advice is the one to follow she is the real expert
My simple advice to you is push hard with your doctors to get him on vs sessions dont delay its not frightening just a chore
keep him moving too as i developed arthritis its quite common for us rusty people
wish you luck Tom
marie13049 VickySponge
Edited
My ferritin has always been high for past 7 yrs up and down lowest it has been over 300 and highest 600+ but has never been normal. Transferrin saturation has always been below 45% and iron studies normal. Genetics testing for hh normal. I AM 71 and suffer ostheoarthritis otherwise ok. Inflammatory marker normal yet gp is not concerned and is not doing further tests re elevated ferritin. The advice she got from consultant is to do nothing. I do monitor with blood tests once a year. I have been in touch with haemo society and I was told the possibility of iron overload is little. My concern is iron loading without knowing. I have raised my concern with gp and she said unlikely due to tests being normal. In your situation I would ask gp for a referral for genetics testing and take it from there. Repeat the iron studies .Good luck.
sheryl37154 marie13049
Posted
Infection, inflammation, simple colds, etc also causes high ferritin - probably your osteoarthritis is causing your see-sawing high ferritin.
VickySponge
Edited
Thanks for your really helpful replies. We live in England, for reference. Will he need referring to a hospital consultant, for tests and treatment? if so, what's the waiting time? Are there doctors who specialise in Haemochromatosis? it's the waiting that's getting him!
tom_70042 VickySponge
Edited
Hi we are in the UK but hail from Ireland
i got myself referred to a consultant haematologist at st peters hospital in chertsey they are brilliant
you will have to push it hard for a referral
sheryl37154 VickySponge
Edited
I am in Australia and don't know the UK medical system but don't depend on finding someone who specialises in Hemochromatosis. The best you can get is a haemotologist who knows how to monitor blood levels. Eventually you will discover this for yourself (I have been diagnosed and treated for 22 years now).
Any health issues caused by haemochromatosis should be treated same as if you do not have haemochromatosis. There is no special ways to deal with them just because you have haemochromatosis. Get that genetic test first to have confirmation. Have other blood tests as mentioned, including Liver Function Test - these can be done by your gp.
Liver, thyroid, testosterone, etc can all be dealt with by your gp while you are waiting.
Don't be stressed by it - it is not a death sentence as long as you are diagnosed and treated, and you are half way there. My dr took 9 years to diagnose, and not before my hips broke up, and my ferritin level was much higher than your husband's. There was no google back then. No, I am not happy with it. I could have done without having hip replacements - one of them botched, and my fatigue and aches and pains never went away. No miracle results for me, but it is a lot better than having cancer.
As I said earlier, educate yourself about it so you can be more pro-active and assertive when talking to your dr.
marie13049 VickySponge
Edited
I am from the UK. Never been referred to see a specialist but my GP wrote for advice. Was advised to test for transferrin saturation which came normal. FERRITIN still remains high but fluctuates from year to year. My transferrin saturation has always been normal. GP was advised to test for HH. It took a long time as first tests got lost and had to be retested. It was done in OXFORD and I live in Aylesbury. The results took a long time to get. I was not even informed of the results. Like your husband I checked my online records and saw the results. Strange enough the results are no longer available for me to see but I have taken a copy. The consultant advised GP no action if tested negative but I understand there are other rare types with normal saturation. This year ferritin has been 400, transferrin 40%. I would press for a referral to see a consultant.
jax15282 VickySponge
Edited
Should be a simple blood test to confirm whether or not he has genetic hemochromatosis.
if yes...therapeutic phlebotomy to get ferritin levels down. But elevated ferritin can have
many other causes that too are fairly easily remedied.
sheryl37154 jax15282
Edited
Sometimes it is difficult to get that genetic test approved. Acceptance by the medical profession is improving though.
Vicky's husband already has the GH marker with TS% >50 (his is 60%) so there not much doubt he has GH.
BTW, a very high TS% is also a sign of aggressive haemochromatosis. Mine stayed up near 100% for years - was 107% once, which sounds ridiculous.
jax15282 sheryl37154
Edited
I guess it depends on the health care system. In Canada my doc would not confirm hemo or authorize phlebotomy until genetic test results were in. The test is routinely ordered and is not expensive, however it takes two months in Ca to get results back. The wait was frustrating and stressful.
VickySponge
Edited
We contacted our local private hospital. We've just heard back from them, they don't have an Endocrinologist but can refer to another hospital to see one. They also said they can't do blood transfusions at the hospital. Ha ha, they clearly don't know what Haemochromatosis is, they didn't even spell it right in their reply.
sheryl37154 VickySponge
Edited
Did you ask about a haemotologist? That is who you want with haemochromatosis. Don't be pushed off to a gastroenterologist unless you actually have liver problems.
VickySponge sheryl37154
Posted
Yes we asked about a Haematologist. There doesn't seem to be any private Haematologists in this area. Anyway, my husband has an appointment with the GP this morning. We are going to ask for a genetic test, a referral to Haematology and we will query screening of his organs.
We've been doing some reading and it would seem he may have Porphyria Cutanea Tarda, which is associated with Haemachromatosis. He has photosensitivity and his exposed skin has erupted in blisters and sores. Last year he had a massive blister on his foot, after forgetting his sunscreen. It took ages to heal.
jax15282 VickySponge
Edited
Talk to your GP if he is familiar with hemo and has prescribed/managed treatment for others, you probably wont have to go elsewhere. The procedure is pretty standard and disorder fairly common...you are not alone.