Diagnosis at last! Haemochromotosis?

[RugbyMama]

I've posted a few times on this forum but a bit of backstory - hubby, 43 had sudden onset of upper right quadrant pain last December, has some tests for gallstones, found nothing, immediately stopped drinking (had drunk heavily for around 15 years), and after a lot of back and forward was found to have some issues with his liver. Fibroscan in May was 64.4kPA (yes, really), in July he was diagnosed with some kind of late onset diabetes thst they couldn't really explain. Also had a gastroscopy in early May (no varices but some pressure changes) and an ECG and told he'd probably need a liver transplant.Today we saw incredibly kind and compassionate hepatologist who confirmed cirrhosis but at an early compensated stage, no need for transplant but will have 6 monthly ultrasounds to keep an eye out for primary liver cancer. However the biggest surprise was a diagnosis of haemochromotosis which is a rare genetic blood disorder that causes a build up of iron in your organs, often liver and pancreas. He is starting venesection treatment for that shortly.

Anyone got any experience of this? Did venesection improve symptoms (fatigue, pain etc)?

[isi123]

Hello, I have haemochromotosis and you have a community right here with people who suffer from the disease.

Therapeutic phlebotomy improves some symptoms and will also help the liver to improve, at least not worsen, by eliminating iron deposits that have accumulated in the organ.

Venesection and removal of iron from the liver will decrease liver inflammation . Alcohol and hemochromatosis are the worst combination, multiplying the damage they cause to the liver separately. It is a silent disease that does not show itself until it has already caused serious damage.

[ARM8]

Hi, we've had a tough year and my partner has too been diagnosed with hemochromatosis and is in the same situation as yours. His LFTs are going down and getting nearer to the normal range after the weekly venesections and his platelets are rising. However, he is struggling with the lifestyle changes of no booze (social life like many has been centred around this).

We are still also having scans to see what some enlargement of lymphs on the liver are. However, he is compensated and being really healthy with exercise and his consultant said there may be a chance of reversal (think it can happen in some rare cases).

Anyway, sorry for the long reply but I also have this in my family and have the genes but haven't developed it yet (women don't tent to develop until periods stopped). I was told by my Mum to test when I was younger so if you have kids I would suggest that they test at some point (it's not actually as rare as you may think) If you don't know it's in your family (my partner didn't have a clue) it can cause the issues that are happening now.

Can I ask if your partner also had low platelets?

Thanks

[RugbyMama in reply to ARM8]

Don't recall any concern being raised over low platelets.

We've been advised to test our children when they are around 18 to see if they might have it, they are 15 and 12 currently. I actually have the opposite issue - chronic anaemia requiring constant iron tablets and occassionally, blood transfusions...perhaps it'll balance out 😅

[Hdon]

I do keep banging the drum on here about Genetic Haemochromatosis (GH). Whenever anybody comes on with a diagnosis of cirrhosis and no apparent cause, it is the first thing that springs to mind. Any investigation of suspected liver disease should include tests for iron overload. Care should be taken in differentiating as liver disease can cause elevated ferritin. Transferrin saturation should also be checked and if both are elevated then a genetic test would be indicated. GH is, sadly, way underdiagnosed and is eminently treatable, especially in its early stages. At diagnosis, 33 years ago, I had a swollen liver and fibrosis, well on the way to cirrhosis. My liver is now normal size. normal LFTs and I have annual ultrasounds which also seem normal. Treatment is by regular venesections to bring iron levels down, then maintenance venesections less often, to keep iron levels acceptable.

[MarkC66]

Hi - there's a really good forum on facebook called Hemochromatosis Support.. well worth you joining..

[Hdon in reply to MarkC66]

The Haemochromatosis Family facebook page is excellent, very active and supportive.

[utep99]

With this condition no but. Tell him to avoid all fast foods and eat nothing deep fried and lose sodas. This will allow him to have a chance to avoid any Cirrhosis. Later down the road cirrhosis will go to Liver cancer right now it seems he is safe. Change the diet and no alcohol and he will get through this.

[RugbyMama in reply to utep99]

He already has cirrhosis but currently compensated. Hasnt drunk alcohol since Decemver 2022. Thanks for response however - appreciate it!

[Bumpity]

My brother had Haemochromotosis which was discovered when he developed anaemia and jaundice. He was hospitalised and while speaking to the consultant about the anaemia he mentioned that our mother had suffered a lot with aneamia and nearly died twice. This lead to further tests and his diagnosis of Haemochromotisos. The Consultant recommended some genetic testing and my mother was told she was a carrier. My GP wouldn't test at all. But, on speaking to another GP at the practise, she said if my mother was a carrier it was likely that I too was one, she then put a flag on my son's medical records so that should any problems occur in the future he should be tested. Apparently it affects more males than females and tends to show up when the patient is around 40 or over. If you have any offspring it's worth getting their records flagged just in case.