Porphyria cutanea tarda

[Porphyriamaniac]

Hi, I don't post much but always lurking and learning. Some of you may remember a post I put on about red urine with no blood in it. Well I finally convinced the gp to test me for porphyria after id consulted Dr google and gone through a battery of tests(Some quite invasive), coming to nothing. Blood, stool and urine all taken fresh and bottles wrapped in foil(looked like bbq sausages 😂). Anyway results are in and its porphyria cutanea tarda or vampire disease, some of you may have read of it? Its very odd and a bit rare,1/25,000? I don't fully understand it but as I do, its something to do with my liver and haem synthesis and a build up of little buggers called porphyrins which get released under my skin making the skin on my hands,face and forearms when exposed to sunlight, fragile (tears if I catch it), blister (I'm a chef, assumed they were burns🤔) and grow hairy, even on my face😕(assumed it was hormones). They also build up in my stools, plasma and urine turning the latter a lovely strawberry colour ☺ hence my earlier post, it could also be causal In my fatty liver and puts me at more risk of cirrhosis and liver cancer as I understand it? Anyway, next steps are to be tested for genetic haemochromatosis and hep c as these can be causes or it may be genetic. I am terrified of all the causes because of what it could mean for my kids...but we'll deal with that as and when, I've got what I've got and worrying won't change it! I wanted to write this post to keep anyone interested updated, also there is nothing on this site on this subject so if anyone else diagnosed looks they will find this post and know they aren't on their own and maybe get in contact with me ☺ there is not much out there on it, there is a page on British liver trust website though. if anyone knows anymore than me on the subject also feel free to enlighten me! 😂

Thanks for reading this long winded post ☺

Stacie. Xxx

britishlivertrust.org.uk/li...

[Bermuda1]

Hi . This organisation will be helpful for you . porphyria.org.uk/?page_id=267. There is also an American organisation . I have know one person wth this , took them ages to diagnose. He is now well and fighting fit . Has been a climb back to health for him. He had a huge length of time before discovery and true diagnosis same as you . His liver if fine now too .

[Porphyriamaniac in reply to Bermuda1]

Thanks very much for your reply bermuda1 ☺ that is so reassuring to know! I have had a look at the link and the american porphyria page and they are very informative. ☺

[Hidden]

Hi Stacie,

I've just been reading your post and have been reading up about porphyria cutanea tarda.

Most likely I've just visited a few of the sites you've been to on Dr Google. I'm glad in a way that you've managed to get to the bottom of your condition and have now confirmed your suspicions, or should that read, worst fears?

How are you managing to cope with this news? This is going to mean a complete lifestyle change. By us all not knowing certain things about our conditions we can end up doing more harm than good. But at least you now know.

Stacie, sadly I don't know anything about you, so I don't know if you lead a full life or have any free time. Where I'm going with this, is that there is a need to raise awareness into this condition as I certainly wasn't aware of it till now. You could start a campaign, I realise that 1/25000 isn't very many, but I've just done some maths (never my strong point) and with the UK having a population of 66 million, this means that there could be at least 2640 case out there. I dare say there's other people just like you who have the condition and don't realise it as it's often misdiagnosed.

Good Luck, and please keep me updated with your progress.

Regards

Richardxx

[Porphyriamaniac]

Hi Richard, I hope you are well? Thanks so much for your reply ☺. I am relieved at the diagnosis in a way as I knew things weren't right. I am a bit up and down about it to be honest, I am more scared of the possibility of hep c or haemochromatosis than I am the porphyria! I am worried about any implications on my children 😞. The diagnosis has been a long time, nearing 3 years, had to nudge various gps and urologist in porphyrias direction. Nobody was joining the dots, they were threatening kidney biopsies, urology nurses saying I'm imagining the red urine, practically laughing telling me its not possible,It's bilirubin in my pee! I swear it is a lovely ruby colour, totally different. So I did my own research, reading medical papers and such and practically diagnosed myself, pushed my drs. I know more about it than my gp now as he says himself! 😁 I will tell you a little about me, I'm 33 with 2 children of 13 and 8 and a fantastic fiancee , I work 30 hours a week and that is enough for me as I struggle a lot with fatigue and my life is fairly full and busy. I agree about the raising awareness though,this may be going undiagnosed/misdiagnosed, even my gp had to read up on it and consult others before moving forward to testing. There is a British porphyria foundation and an American one I intend to contact them soon, I just want to get the rest of my testing out of the way and digest it all a little first. I spoke to gp today, he is referring me to haematologist. I will let you know how I get on.

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