A blood stem cell transplant successfully corrected the underlying defect that causes erythropoietic protoporphyria (EPP) and eased symptoms of the genetic condition in a 16-year-old boy in the U.S, according to a case report. Prior to the stem cell transplant, the teen had developed painful sunlight sensitivity, a hallmark…
The experiences of a woman in India with acute intermittent porphyria (AIP) who endured years of symptoms and multiple hospitalizations before ultimately getting a correct diagnosis illustrate the global problem of inequality in AIP care, according to a new report by researchers in the Asian nation. The scientists highlighted…
Discussion
A few weeks ago, our porphyria community received bad news. The U.S. Food and Drug Administration (FDA) issued a complete response letter to Disc Medicine’s new drug application for bitopertin, an experimental oral therapy designed to treat erythropoietic protoporphyria (EPP) or X-linked protoporphyria. This means the FDA rejected…
Discussion
I began experiencing symptoms of acute intermittent porphyria (AIP) in July 2020 and was diagnosed three months later. I consider my early diagnosis a blessing, as some people with porphyria wait up to 15 years for an answer. If AIP didn’t run in my family, I might not have…
Becoming educated and informed about porphyria is a good first step. Here you’ll find general information about the disease, including the types, diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of some of our columnist’s words of wisdom to help you along on your porphyria journey.
There is no cure for porphyria yet, but there are therapies that can help manage the disease. Here you can find more information about some of the approved treatments for porphyria.
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