Porphyria historical perspective
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Overview
Historical Perspective
The term derives from the Greek πορφύρα, porphura, meaning "purple pigment". The name is likely to have been a reference to the purple discolouration of some body fluids in patients during an attack.[1] Although original descriptions are attributed to Hippocrates, the disease was first explained biochemically by Felix Hoppe-Seyler in 1874,[2] and acute porphyrias were described by the Dutch physician B.J. Stokvis in 1889.[3][1]
Porphyrias have been detected in all races, multiple ethnic groups on every continent including Caucasians, Asians, Africans, Peruvian/Mexican Hispanics, Native Americans, Laplanders and Australian aborigines. There are high incidence reports of AIP in areas of India and Scandinavia and over 200 genetic variants of AIP, some of which are specific to families, although some strains have proven to be repeated mutations.
The Scandinavian source of porphyria has been traced to the Sámi ethnic group. Their language, as well as the languages of Finland, Estonia, Hungary, Transylvania, and Bulgaria have ties to languages in small groups of people living in Russia on both sides of the Urals and are branches of Uralic languages and Altaic languages (the Finno-Ugric Languages).
The links between porphyrias and mental illness have been noted for decades. In the early 1950s patients with porphyrias (occasionally referred to as "Porphyric Hemophilia"[4]) and severe symptoms of depression or catatonia were uselessly and inappropriately treated with electroshock.
Vampires and Werewolves
Porphyria has been suggested as an explanation for the origin of vampire and werewolf legends, based upon a number of similarities between the condition and the folklore that was first speculated upon by biochemist David Dolphin in 1985. His ruminations gave rise to a popular urban legend which accepts this association as factual, though it is historically and factually baseless. Porphyria cutanea tarda presents clinically as a pathological sensitivity of skin exposed to light causing scarring, hair growth and disfiguration. Additionally, it was believed that the patients' missing heme could be absorbed through the stomach, correlating with the legends' hematophagy.[5]
Historical patients
The insanity exhibited by King George III evidenced in the regency crisis of 1788 has inspired several attempts at retrospective diagnosis. The first, written in 1855, thirty-five years after his death, concluded he suffered from acute mania. M. Guttmacher, in 1941, suggested manic-depressive psychosis as a more likely diagnosis, The first suggestion that a physical illness was the cause of King George's mental derangements came in 1966, in a paper "The Insanity of King George III: A Classic Case of Porphyria"[6], with a follow-up in 1968, "Porphyria in the Royal Houses of Stuart, Hanover and Prussia"[7]. The papers, by a mother/son psychiatrist team, were written as though the case for porphyria had been proven, but the response demonstrated that many, including those more intimately familiar with actual manifestations of porphyria, were unconvinced. The theory is treated in Purple Secret[8], which documents the ultimately unsuccessful search for genetic evidence of porphyria in the remains of royals suspected to suffer from it.[9] In 2005 it was suggested that arsenic (which is known to be porphyrogenic) given to George III with antimony may have caused his porphyria.[10] Despite the lack of direct evidence, the notion that George III (and other members of the royal family) suffered from porphyria has achieved such popularity that many forget that it is merely a hypothesis. The insanity of George III is the basis of the plot in The Madness of King George, a 1994 British film based upon the 1991 Alan Bennett play, The Madness of George III. The closing credits include the comment that the illness suffered by King George has been attributed to porphyria.
It is suspected that Mary, Queen of Scots--George III's grandmother six times removed--also suffered from acute intermittent porphyria, although this is subject to much debate. It is assumed she inherited the disorder, if she had it, from her father, James V of Scotland; both father and daughter endured well-documented attacks that some believe fall within the constellation of symptoms of porphyria.
Other commentators have suggested that Vincent van Gogh may have suffered from acute intermittent porphyria.[11]
It has also been imagined that King Nebuchadnezzar of Babylon suffered from some form of porphyria (cf. Daniel 4).[12] The symptoms of the various porphyrias are so wide-ranging that nearly any constellation of symptoms can be attributed to one or more of them.
The poet Robert Browning, also, notoriously wrote a poem called Porphyria's Lover, which aside from a literal interpretation of the word also compares love itself to a form of disorder.
Paula Frias Allende, the daughter of the Chilean novelist Isabel Allende, fell into a porphyria-induced coma in 1991 which inspired Isabel Allende to write the autobiographical book Paula, dedicated to her daughter.
References
- ↑ 1.0 1.1 Lane, N. Born to the purple: the story of porphyria Scientific American Fulltext.
- ↑ Hoppe-Seyler F. Das Hämatin. Tubinger Med-Chem Untersuch 1871;4:523–33
- ↑ Stokvis BJ. Over twee zeldzame kleurstoffen in urine van zieken. Nederl Tijdschr Geneeskd 1889;2:409-417.
- ↑ Denver, Joness. "An Encyclopaedia of Obscure Medicine". Published by University Books, Inc., 1959.
- ↑ Adams C. Did vampires suffer from the disease porphyria--or not? The Straight Dope 7 May 1999 Article.
- ↑ Ida Macalpine & Richard Hunger, "The Insanity of King George III: A Classic Case of Porphyria", British Medical Journal, 1966, pp. 65-71.
- ↑ Ida Macalpine, Richard Hunger, & Claude Rimington, "Porphyria in the Royal Houses of Stuart, Hanover and Prussia: A Followup Study of George III's Illness", British Medical Journal, 1968, pp. 7-18.
- ↑ Röhl, John C.G., Warren Martin,& David Hunt, Purple Secret, Bantam Press, London, 1998 ISBN 0-593-04148-8
- ↑ The authors demonstrated a single point mutation in the PPOX gene, but not one which has been associated with disease.
- ↑ Cox TM, Jack N, Lofthouse S, Watling J, Haines J, Warren MJ. King George III and porphyria: an elemental hypothesis and investigation. Lancet 2005;366(9482):332-5. PMID 16039338.
- ↑ Loftus LS, Arnold WN. Vincent van Gogh's illness: acute intermittent porphyria? BMJ 1991;303:1589-91. PMID 1773180.
- ↑ Beveridge A. The madness of politics. J R Soc Med 2003;96:602-4. PMID 14645615.