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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)
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12y ago
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5mo ago

It is believed that King George III of England may have had porphyria, based on historical records of his symptoms. Additionally, there are other historical figures who have been suspected of having porphyria, but it is difficult to definitively diagnose from historical accounts alone.

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13y ago

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...

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13y ago

It passes down through your family line, its genetic.

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Q: Is there anyone that had porphyria?
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Did count Dracula suffer from porphyria?

There is no definitive evidence to suggest that Count Dracula, a fictional character created by Bram Stoker, suffered from porphyria. The link between porphyria and vampire lore is largely a modern interpretation. Stoker's inspiration for Dracula came from various sources, and there is no direct reference to porphyria in the novel.


How do you pronounce porphyria?

Porphyria (Poor-fear-E-ah) Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of "porphyrins" or "porphyrin precursors." Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends upon the type of porphyria.


What is the incidence of ALA dehydratase deficiency porphyria?

ALA dehydratase deficiency porphyria is an extremely rare form of porphyria. It is an autosomal recessive disorder with only a few cases reported worldwide. Symptoms can vary widely among affected individuals.


What is porphyria?

Porphyria is a group of rare disorders caused by the buildup of natural chemicals that produce heme, a component of hemoglobin. Symptoms vary depending on the specific type of porphyria, but can include abdominal pain, skin sensitivity to sunlight, and neurological problems. Treatment aims to alleviate symptoms and prevent complications.


Is porphyria an autoimmune disease?

Porphyria is not an autoimmune disease. It is a group of rare genetic disorders that affect the body's ability to produce heme, a component of hemoglobin. Autoimmune diseases occur when the immune system mistakenly targets the body's own tissues.

Related questions

What does Porphyria's lover desire?

Porphyria's lover desires to possess Porphyria completely, to have her love him and be with him forever. He wants her to be devoted solely to him and not to anyone else, even if it means resorting to extreme measures to ensure her loyalty.


What is acute intermittent porphyria also called?

Swedish porphyria, pyrroloporphyria, and intermittent acute porphyria.


Is porphyria dominant or recessive?

both depending on the type of porphyria


When was Porphyria's Lover created?

Porphyria's Lover was created in 1836.


What actors and actresses appeared in Porphyria - 2013?

The cast of Porphyria - 2013 includes: Jasmin Egner as Porphyria Simon McCay as Thomas


What is congenital erythropoietic porphyria also called?

CEP is also called Gunther's disease, erythropoietic porphyria, congenital porphyria, congenital hematoporphyria, and erythropoietic uroporphyria.


Did count Dracula suffer from porphyria?

There is no definitive evidence to suggest that Count Dracula, a fictional character created by Bram Stoker, suffered from porphyria. The link between porphyria and vampire lore is largely a modern interpretation. Stoker's inspiration for Dracula came from various sources, and there is no direct reference to porphyria in the novel.


How is porphyria diagnosed?

Urine test, blood plasma tests, biochemical tests to determine type of porphyria, enzyme test.


What is the difference between paraerythropoietic porphyria and erythropoietic porphyria?

Paraerythropoietic porphyria does not exist in standard medical textbooks on porphyria. "Para" means beside. Apparently, this name should indicate that is something like erythopoietic porphyria. Erythropoietic porphyria is in most cases a very severe disease starting in neonates, in most instances. A disease named erythropoietic protoporphyria is less severe, but begins also in childhood. The main symptom of both diseases is intolerance of sunlight that induces pain and/or blisters in sun-exposed skin.


How do you pronounce porphyria?

Porphyria (Poor-fear-E-ah) Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of "porphyrins" or "porphyrin precursors." Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends upon the type of porphyria.


What is variegate porphyria also called?

Also known as porphyria variegata, protocoproporphyria, South African genetic porphyria, and Royal malady (supposedly King George III of England and Mary, Queen of Scots, suffered from VP).


How does the speaker kills porphyria?

If by this question you're making reference to the Robert Browning poem "Porphyria's Lover" the poem's speaker strangled Porphyria with her hair. If you are actually asking about a speech someone has perhaps made on the disease called porphyria, I have no idea as to how one might cure oneself of it and thus tender instead my sincere apologies.