Porphyria Cutanea Tarda (PCT)

@donnasa, this sounds absolutely unbearable. It must be so difficult to see your sister in so much pain.

According to this article in NORD https://rarediseases.org/rare-diseases/porphyria-cutanea-tarda/
"PCT is the most treatable form of porphyria and treatment appears equally effective for both the sporadic and familial forms. The standard treatment of individuals with PCT is regularly scheduled phlebotomies to reduce iron and porphyrin levels in the liver.

@steeldove who has experience with porphyria cutanea tarda (PCT) may be able to provide further insight.

Donna, has your sister been treated with phlebotomy (blood draw)? Is she on dialysis?

@colleenyoung Yes, she has completed 5 weeks of phlebotomy. She has been on home dialysis for 4 years - she does treatments 4-5 times per week. Over the past several months, it has been necessary for someone to assist her hooking up and disconnecting because her hands are unusable. I have seen many many pictures of hands of people with PCT - but without exception hers are the worse of any I have seen. They literally look like they have been through a meat grinder.

I have the same issues. I lost my thumbnails years ago. And yes, my hands are a mess. Infected at times. I bump a hand and the skin rips. I live in rural Minnesota. Quacks for doctors.Some have accused my wounds of being self inflicted. The only Dr, who knew how to treat me left to practice at the mayo clinic. Dr. here aren't prescribing phlebotomy like it was years ago. I wish all the best. I also have hemochromatosis. They base phlebotomy on ferritin levels and not porphyrins. I wish you and your family all the best.

I was given the results of my condition as PCT. Prophyria Cutanea Tarda. The pain and blistering are unbearable. EVERY Doctor I have been too only comment..."Well that must hurt a lot. I know nothing about that disease." I can find no one to treat it or give me answers. All I have been told is to stay out of the sunlight.

Can anyone offer me suggestions of where to go to get the answers. Phlebotomy is not an option for me. They have tried during my dialysis treatments and the number count of iron is not diminishing.

Thank you for any help that you may be able to provide me.

Welcome to Connect, @ouchelp220 Your symptoms of PCT sound awful with the blistering and pain. I’m so sorry you’re having to go through this and not getting any relief!
I was looking online for a little more information on Prophyria Cutanea Tarda and the type of the disease you’ve acquired is supposed to the most treatable form by having phlebotomies. Unfortunately for you that’s not an option.

I did find on Mayo’s main site that another treatment for people who are not able to to have a phlebotomy. Taking a medicine used to treat malaria, usually hydroxychloroquine (Plaquenil) can help absorb excess porphyrins and help your body get rid of them more quickly than usual. The medicine is generally used only in people who can't tolerate phlebotomy. This may be a real of hope for you!

Here’s the article that talks about the types of your disease so scroll down until you find PCT. The next page, discussion diagnosis and treatment
https://www.mayoclinic.org/diseases-conditions/porphyria/symptoms-causes/syc-20356066
I’m also giving you the link to Mayo Clinic in case you’d like to get a second opinion. http://mayocl.in/1mtmR63. You can click on there to request an appointment.

If you’re not having any success with your current doctors, are you able to seek treatment at a larger teaching hospital or visit a Mayo Clinic at one of the 3 campuses?

Thank you for your suggestions. I have seen that website and read all the things that would be helpful. I made an appointment with my doctor to discuss Plaquenil and its benefits. I was put on a very low dose of it and have since been taken off of it. I need to ask them why.

I wish you the best in all you are going through.

@ouchelp220, I'd like to add my welcome and let you know that I merged your posts with this existing discussion:
- Porphyria Cutanea Tarda (PCT): https://connect.mayoclinic.org/discussion/porphyria-cutaneous-tarda/

I did this so you can read previous posts and connect with other members living with PCT like @jfmaddog and @donnasa.

Can you share why phlebotomy is not a treatment option for you?

It is very treatable IF you have functioning kidneys. Dialysis for ESRD does NOT filter the iron. My sister has been blessed to see Dr Herbert Bonkovsky - one is only a handful of specialists on PCT. He is located in Winston- Salem NC. Phlebotomy is a challenge with ESRD. My sisters hands are indescribable. They are severely infected from the blisters and when she recently bumped her wrist and the skin peeled back. She will eventually lose all fingernails. She is being treated with meds to help reduce iron through bowels rather than kidneys. Basically, her hope is in getting a kidney transplant - until then, it is a daily struggle with pain and wound management. She is currently in the hospital (for over 2 weeks )on IV antibiotics to try to get the infection under control again. Pain is being managed with Tylenol and tramadol and on dialysis days which horrible pain days ( dialysis exacerbates the pain) dilaudid via IV is the only thing that helps. PCT is rare enough without being complicated with ESRD. I have wondered if there are even 10 people with both.

They are trying through my dialysis treatments. They are throwing away part of the blood at the end. The numbers have gone down, but so small it’s not noticeable.

They have done 10 treatments like that so far, and my numbers only gone down 10 points. It’s still above 900.

Just today, on my way into town, a blister broke out that covered my entire thumb. It’s hard to describe the pain.

What treatment are they giving her has she tried hydroxychloroquine?