Porphyria

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porphyria

[pȯr′fir·ē·ə]
(medicine)
A usually hereditary, pathologic disorder of porphyrin metabolism characterized by porphyrinuria and photosensitivity.

Porphyria

(pop culture)

The little-known disease porphyria is actually a collective name for seven little known diseases, first identified during the nineteenth century. They were such rare diseases that only through the twentieth century have the different varieties been pinpointed and described. Collectively, the porphyrias are metabolic disorders caused by an enzyme deficiency that inhibits the synthesis of heme, the more extreme forms of the disease are characterized by an extreme sensitivity to light. The name porphyria comes from the Greek porphyros, meaning reddish-purple, and refers to a substance prominent in the blood and urine of a person with porphyria.

As early as 1964, L. Illis, in the article “On Porphyria and the Aetiology of Werewolves” suggested that porphyria could account for the reports of werewolves. In 1985, David Dolphin, in a paper presented to the American Association for the Advancement of Science, suggested that porphyria might underlie the reports of vampires. He noted that one treatment for porphyria was the injection of heme. Dolphin hypothesized that it was possible that people suffering from porphyria in past centuries attempted to drink the blood of others as a means of alleviating their symptoms. His idea received wide publicity and was seriously debated for a brief period.

Among those who critiqued Dolphin’s theory was Paul Barber. First, Barber noted that there was no evidence that drinking blood would have any effect on the symptoms of the disease. Barber argued quite succinctly that Dolphin’s theory only fit the situation if one did not look at the data too closely and had little respect for the powers of observation of the people who made the reports. The reports did not describe people who had the symptoms of porphyria, many of them related to the descriptions of corpses, not living persons, or to disembodied ghosts.

The coverage given the porphyria hypothesis in the popular press was a matter of great distress to many patients suffering from porphyria. The Los Angeles Times, for example, provided broad coverage as did many of the tabloids. Dr. Jerome Marmorstein, a physician from California, convinced the Times to do follow-up coverage countering the effects of its initial article. Norine Dresser, who has written the most extensive report of the debate, contacted the Porphyria Foundation and discovered a range of negative reactions experienced by people as a result of publicity connecting them to vampirism. Their distress was heightened by several popular television shows built on the possibility of a porphyria patient exhibiting vampiric behavior patterns.

The debate over porphyria lasted for several years, but Dolphin’s hypothesis was eventually discarded altogether. It has no viable exponents at present. Meanwhile, the porphyria symptoms obviously resonate with the descriptions of lycanthropy. There are several studies in English and a number of in German expressing this idea.

Sources:

Barber, Paul. Vampires, Burial, and Death: Folklore and Reality. New Haven, CT: Yale University Press, 1988. 236 pp.
Dean, Geoffrey. The Porphyrias. Philadelphia: J. P. Lippencott, 1963. 118 pp.
Dresser, Norine. American Vampires: Fans, Victims, Practitioners. New York: W. W. Norton & Company, 1989. 255 pp.
Evans, Tammy. Porphyria: The Woman Who Has the Vampire Disease. Far Hills, NJ: New Horizon Press, 1997. 288 pp.
Illis, L. “On Porphyria and the Aetiology of Werewolves.” Proceedings of the Royal Society of Medicine 57 (January 1964): 23–26. In A Lycanthropy Reader: Werewolves in Western Culture. Charlotte F. Otten, ed. Syracuse, NY: Syracuse University Press, 1986, pp. 195–199.

Porphyria

 

a disturbance characterized by an increase in the quantity of porphyrins in the blood and tissues and by their increased excretion in the urine. Porphyria is a basic disturbance in the metabolism of pigments in man.

Congenital porphyria is caused by a hereditary block of the conversion of porphobilinogen to uroporphyrinogen in the erythrocytes, resulting in an accumulation of porphyrins in the blood, organs, and tissues. Acquired porphyria occurs with poisonings, such as those caused by lead or barbiturates; with hypovitaminosis (pellagra); with some types of anemia and liver disease; and with alcohol abuse and overdose of sulfanilamides. Many of these substances, such as barbiturates, can provoke attacks of congenital porphyria that are often fatal. Porphyria is manifested by skin lesions and by gastrointestinal, neurological, and mental disorders. The skin lesions are manifested by photodermatosis in areas of the body exposed to light, since the porphyrins accumulating in the skin have a pronounced photosensitizing effect. Porphyrin photodermatosis is characterized by edema and by inflammation of the skin with violet erythematous pigmentation. Necrosis followed by the formation of deforming scars develops in severe cases. Gastrointestinal disorders are manifested by attacks of intestinal colic, vomiting, and constipation. Paresis, paralysis, and emotional instability occur in neurological and mental disorders associated with porphyria. Manifestations of photodermatosis are generally absent in pronounced neurological disorders. In porphyria, the urine contains a large quantity of porphyrins (coproporphyrin I or uroporphyrin), which impart a bloodred color to the urine. Treatment varies with the cause of the disease.

REFERENCES

Shteinberg, M. A. Fotodermatozy. Moscow, 1958.
Brugsch, J. Porphyrine, 2nd ed. Leipzig, 1959.

V. A. FROLOV

Porphyria

comes in a winter storm to show her devotion, and her lover strangles her with her own tresses. [Br. Poetry: Browning Porphyria’s Lover in Magill IV, 247]
References in periodicals archive ?
[7] Nonstandard abbreviations: EPNET, European Porphyria Network; ALA, [delta]-aminolevulinic acid; PBG, porphobilinogen; EQAS, external quality assessment scheme; [TE.sub.a], total allowable error; EPP, erythropoietic protoporphyria; PCT, porphyria cutanea tarda; PBGD, porphobilinogen deaminase; UROD, uroporphyrinogen decarboxylase; AIP, acute intermittent porphyria; VP, variegate porphyria; HCP, hereditary coproporphyria; CIII:I, coproporphyrin isomer III:I.
A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol 1980;116:543-7.
Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma.
Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen: a possible mechanism for the acute attack of variegate porphyria. J Clin Invest 1993;91:1436-1444.
(7.) Hift RJ, Davidson BP, van der Hooft C, et al Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard.
Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Hum Mol Genet 1996;5:981-4.
The decrease in PBGD activity may be secondary, as reported in variegate porphyria patients (33).
Porphobilinogen (PBG) [3] excretion in urine increases in acute porphyric attacks, and the measurement of PBG is particularly important in diagnosing the acute porphyrias (acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria) during the acute stage (7, 8).
Moreover, additional biochemical tests carried out in the stool (9) and blood (10,11) could have even led to narrowing the diagnosis to variegate porphyria (12-14).
Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria. Am J Med Genet 1998;79:22-6.
A tightly bound protein-porphyrin complex isolated from the plasma of a patient with variegate porphyria. Clin Chim Acta 1982;118:219-28.
Fecal samples from patients with variegate porphyria (VP) were obtained from two porphyrin reference laboratories.