ask our doctors

Erythropoietic Protoporphyria

Get the facts on Erythropoietic Protoporphyria treatment, diagnosis, staging, causes, types, symptoms. Information and current news about clinical trials and trial-related data, Erythropoietic Protoporphyria prevention, screening, research, statistics and other Erythropoietic Protoporphyria related topics. We answer all your qestions about Erythropoietic Protoporphyria.

Question: Erythropoietic Protoporphyria? I was just wondering if anyone else had epp or another form of porphyria as i have never met or had the chance to talk to someone else with the same condition as me.

Answer: My sister-in-law has Porphyria and it is HELL!! She has the hereditary form of it and will be going in for genetic testing to isolate the gene responsible. It is very worrisome because I am married to her brother and hope that it won't affect my daughters health down the road. It is a very complicated disorder but a common feature in all porphyrias is the accumulation in the body of "porphyrins" or "porphyrin precursors." Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends upon the type of porphyria. When these poephyrins build up, it is very painful... many times unbearable pain. She is also very sensitive to light and must cover her skin when she goes outside. The American Porphyria Foundation has an excellent website at http://www.porphyriafoundation.com/... It took over a year for my sister in law to get a diagnosis on her condition first because it is so rare and second because some of her symptoms mimicked Lupus and M.S. Some nights she is so miserable that she can't move from the couch. I feel so bad for her. The genealogist in me wants to trace all the branches of my husbands family tree to find where this came from. I pray that one day they find a cure. You have my heart and my prayers. I know it isn't easy for you.


Erythropoietic Protoporphyria News