Is there anyone that had porphyria?

Answer 1

First of all you must have a family history with porphyria; secondly the type of porphyria in your family must be definitely established as well as the mutation in your family. The porphyrias are a group of diseases (disorders) caused by the over-production of porphyrins, as a result of an inherited metabolic defect. In most cases the defect is genetic, except with one form porphyria cutanea tarda, that is however usually not genetic, but is acquired as a result of certain forms of liver dysfunction.

A patient with porphyria have two major symptoms;

the acute attack ( severe abdominal pain, nausea, vomiting, constipation, and pain in the back and limbs);

and photosensitivity (due to sun-exposed areas, a skin disease develops with blisters and sores, particularly on the face and backs of the hands, forming scars, and healing takes longer than normal.

Testing is very problematic and depends on the nature of your symptoms that you experience as well as in what country you live.

It must be tested at a PORPHYRIA LABORATORY who are able to perform the complete range of tests necessary as incomplete results may be misleading in giving false-negative results. You have to submit a urine sample and a blood sample at a reputable porphyria laboratory for the following tests;

1. Urine ALA and PBG measurement (this helps to exclude acute intermittent porphyria, and variegate porphyria in the acute attack).
2. Urine porphyrin screening, followed by chromatographic quantitation if positive, to estimate the activity of acute intermittent porphyria and variegate porphyria, and to confirm porphyria cutanea tarda.
3. Plasma fluorescence scan (this helps to exclude several porphyrias, including variegate porphyria and porphyria cutanea tarda).
4. Erythrocyte fluorescence (this helps to exclude erythropoietic protoporphyria and congenital erythropoietic porphyria).
5. DNA testing for the R59W mutation. (this is VP - Variegate Porphyria - South African mutation)
6. If your results are negative, then your symptoms are not due to porphyria, and it is therefore highly unlikely that you in fact have porphyria. Your doctor must in any event help you to find another cause for your symptoms. (Source: Porphyria UCT SA)

Answer 2

King George III of England

The theory that King George suffered from a certain type of porphyria has been widely published and defended in medical journals, books and movies.

The book 'George III and the Mad Business' is a fine illustration of how a story, if repeated enough, comes to believed by millions in the world, even when it is not founded on good scientific evidence...

These claims were refuted from world experts in Porphyria research. There is enough living descendants of the Royal Families of Europe today, to produce conclusive evidence that a number of living descendants, have the well documented symptoms and biochemical findings of the porphyria disorder. On average only 50% of the children will inherit the porphyria gene from an affected parent.

It is likely to prove to be a another medical myth...

Answer 3

It passes down through your family line, its genetic.