Porphyrias: a disease grouping by cause, not symptoms

Monday, April 18th, 2011

Held biennially, the Porphyrins & Porphyrias conference (P&P) is the world’s largest gathering on the porphyrias – a group of metabolic disorders causing biochemical disruptions in the pathway of the body which synthesizes haem (heme).

As a result of each of these disruptions, the body presents with unique symptoms ranging from skin symptoms and phototoxicity – as those seen in erythropoietic protoporphyria and congenital erythropoietic porphyria – through to acute attacks of abdominal pain, seen most commonly in acute intermittent porphyria. In short, no two porphyrias are clinically identical yet they are discussed as a single group of disorders with a similar cause. As a matter of fact, there are eight variations of porphyrias, each with a specific clinical manifestation of disease. (more…)

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The fear of what lay ahead

Wednesday, February 10th, 2010

“The fear of what lay ahead” is our latest webcast exploring the impact of EPP upon individuals, their families and loved ones.

Wendy and Ralph are the proud parents of two daughters, who were both diagnosed with Erythropoietic Protoporphyria (EPP), although their first daughter suffered for almost three years before the correct diagnosis of EPP was arrived at.

In this short film they discuss the fear, confusion and distress they endured as a result of grappling with EPP’s severity, invisibility and often unknown and misunderstood nature, all the while unable to treat or protect their children.

Clinuvel would like to extend its thanks and appreciation to Ralph, Wendy, Angela and Lyndal for allowing us to share their story.

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