Porphyria Experts in Action

"It’s been really eye-opening to see how important patient involvement is in rare disease.  Patients can drive the field, move the field. Rare diseases like porphyria are very life-altering. Patients have an important role in how the regulatory agencies and how physicians are looking at the disease and what the outcomes are."

Liver dysfunction is a rare but very real possibility for people with EPP and XLP. These guidelines provide recommendations for the diagnosis, monitoring and treatment of liver-related dysfunction in protoporphyrias (EPP and XLP).

"My connection to porphyria is a bit more personal than a lot of other researchers.  I have EPP porphyria."

In this Summing UP, researchers looked at 28 years of medical records to identify if women with AHP and their babies were at increased risk of pregnancy complications.

Question: I have AIP. I haven’t had a porphyria attack for several years and I don’t have a porphyria specialist. Is there anything I should ask my doctor to check for during my annual check-up?

"Seeing patients and how it impacts them day-to-day, and how their families' lives are impacted, it’s a different level of understanding."

This research describes some important features of EPP including prodromal (warning) symptoms, a priming effect from previous light exposure, and lack of visible symptoms among many patients.

This article provides an overview of the different types of pain in acute hepatic porphyria (AIP, VP, HCP, ADP) and how they may be treated.