Porphyria

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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Porphyria: acute hepatic porphyria - Porphyria
Porphyria

Porphyria: acute hepatic porphyria

Acute intermittent hepatic porphyria is the most common and common type of porphyria. Like other porphyria, acute hepatic porphyria is due to a deficiency of one of the enzymes of the biosynthesis of heme (PBG deaminase). This deficit is mainly expressed in the liver and is responsible for the accumulation of precursors of porphyrins ALA and PBG
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Porphyries: erythropoietic protoporphyria - Porphyria
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Porphyries: erythropoietic protoporphyria

Erythropoietic protoporphyria is a rare hereditary porphyria "pseudo recessive". The disease appears when a mutated gene has been transmitted by one of the parents and the other parent has a gene decreased frequently in the general population. The enzyme involved is called ferrochelatase and its deficiency causes an accumulation of a porphyrin called protoporphyrin in the bone marrow
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Porphyries: porphyria cutaneum - Porphyria
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Porphyries: porphyria cutaneum

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: symptoms to treatment - Porphyria
Porphyria

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
Read More