Porphyries: symptoms to treatment

Some claim that Dracula suffered from porphyries: his phobia of light, his hair, his need for blood to survive, his original vision of the world ... So much for literature.

Professor Jean-Charles Deybach is willingly rebelling against this legend invented, unfortunately, especially for patients suffering from this disease.

In reality, porphyries are a set of eight rare diseases that affect the liver or bone marrow (where red blood cells are made).

Difficulty with these pathologies: their diagnosis, which can take several years to be asked.

Different types of porphyries

There are different types of porphyria (hepatic, cutaneous, congenital ...) with different symptoms: abdominal pain, nausea, skin lesions ...

But the common manifestation of these pathologies is the presence of prohyrins in stools and urine that are dark red.

This special issue focuses on porphyria (and their different types): their causes, symptoms and treatments.

In this article:
> Porphyries: what is it?
> Acute hepatic porphyria
> Porphyria cutaneum
> Congenital erythropoietic porphyria
> Erythropoietic protoporphyria

You want to react, to give your testimony or to ask a question? Appointment in our FORUMS or A doctor answers you !

Read also :

> The genome in each of our cells ...
> Blood groups: what you need to know
> Stem cells: the essential thing to know

Author: Sylvie Charbonnier.
Expert consultant: Professor Jean-Charles Deybach, head of the Rare Diseases Center for Porphyria.
June 2014.

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This is the most common porphyry. Porphyria cutaneous affects about one in 25, 000 people. As in the case of other porphyries, it is a deficient enzyme, the uroporphyrinogen decarboxylase, which causes the accumulation of porphyrins in the liver, but without accumulation of precursors ALA and PBG, so there is no acute attack in cutaneous porphyria
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Porphyries: where did it come from? What is it exactly ? The word "Porphyria" comes from "porphyrin", a name that comes from the Greek word for "red pigment". More specifically, porphyries are the result of the accumulation of porphyrins. In our blood cells, the porphyrins combine with the iron to give the heme, and our blood its beautiful red color
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