André's EPP page

You may be wondering why I've picked those boring clouds for a background?

It's because I have this rare metabolic disease called Erythropoietic ProtoPorphyria (EPP). EPP is one of the family of porphyrias.

What is porphyria?

Porphyrias are rare metabolic disorders, characterized by certain disturbances in the making of haem in the red blood cells.
(Haem is a part of hemoglobin, which is responsible for the transportation of oxygen molecules through the body.)

At least eight different types of porphyria have been found, that differ considerably from each other. The types are:

PP Plumboporphyria (aka ALA-D)
AIP Acute Intermittent Porphyria
CEP Congenital Erythropietic Porphyria
PCT Porphyria Cutanea Tarda
HEP Hepatoerythropoietic Porphyria
HCP Hereditary Coproporphyria
VP Variegate Porphyria
EPP Erythropoietic Protoporphyria
Most of these porphyrias are inherited, whereas some can be acquired.
What they all have in common, is the accumulation in the body of "porphyrins" or "porphyrin precursors". Although these are normal body chemicals, they normally do not accumulate.
Precisely which one of these chemicals builds up depends upon the type of porphyria. Clinical manifestations of the different types of porphyria are not the same, and forms of treatment also depend on the type of porphyria.

What's so special about EPP?

Due to shortage of a certain enzym (ferrochelatase), EPP-patients will have too many protoporhyrins in their red blood cells and liver. When these protoporhyrins absorb too much (sun)light, they will cause, amongst other things, swelling and itching of the skin.
As a result we can't stand sunlight very well and must be careful when going outside in the summertime. We just love those cloudy days!

To put it all even more scientifically:


EPP is associated with decreased activity of ferrochelatase and is inherited in an autosomal dominant fashion. Biochemically, this defect results in massive accumulations of protoporphyrin in erythrocytes, plasma, and feces. Clinically, the disease is characterized by the childhood onset of cutaneous photosensitivity in light-exposed areas, but skin lesions are milder and less disfiguring than those seen in CEP, PCT, HEP, and VP. (Taken from the Merck Manual)

Similar diseases

There are some other diseases that are not porphyria, but they do involve (sun)light sensitivities. They include:

XP (Xeroderma Pigmentosum) and CPLD.

Read more about EPP

PorphBook Lots of info by Diana Deats-O'Reilly
EPPREF EPP Research and Education Fund
OMIM page on EPP Extensive descriptions and research findings
PubMed Find more medical articles
Merck Manual on EPP
Another manual

Other porphyrias

PorphBook A book on porphyria by Diana Deats-O'Reilly
Shelly's Porphyria University (AIP)
René's VP page
CherylAnn's Page (incl. mail list)
Canadian Porphyria Foundation
American Porphyria Foundation
Pat Frogs Page on HCP
Mary Pretlow's Page

Porphyria clubs

Yahoo Porph Club
MGH Chat Room for VP and other porphyrias
A Forum For All Porphs


There is no cure for EPP yet, but however hope exists. Lately, some patients achieved good results with PUVA-treatment. This therapy involves a sort of stand-up solarium with specific wavelength light, which builds up sunlight resistance in the skin.


EPP info De site van de Nederlandse Patientenvereniging.
Suusjes site De site van Suzanne Talens
SPITS! Een artikel uit de SPITS


Dermatology Online Erlangen University of Erlangen (English/deutsch)
Die PresseEin Artikel von Viola Gangl


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