Porphyria

enUK

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]See: Love, Unrequited

porphyria

enUK

porphyria

[por-fēr´e-ah] a genetic disorder characterized by a disturbance in porphyrin" >porphyrin metabolism with resultant increase in the formation and excretion of porphyrins (uroporphyrin and coproporphyrin) or their precursors; called also hematoporphyria. Porphyrins, in combination with iron, form hemes" >hemes, which in turn combine with specific proteins to form hemoproteins" >hemoproteins. hemoglobin" >hemoglobin is a hemoprotein, as are many other substances essential to normal functioning of the cells and tissues of the body.
Two general types are known: the erythropoietic porphyrias, which are concerned with the formation of erythrocytes in the bone marrow; and the hepatic porphyrias, which are responsible for liver dysfunction. Manifestations of porphyria include gastrointestinal, neurologic, and psychologic symptoms, cutaneous photosensitivity, pigmentation of the face (and later of the bones), and anemia with enlargement of the spleen. Large amounts of porphyrins are excreted in the urine and feces.
Treatment of this condition has been primarily symptomatic and varies in its effectiveness. Emphasis is on prevention of attacks by avoiding fasting and drugs that precipitate the symptoms. Photosensitivity may be controlled by avoiding exposure to light. Removal of the spleen is useful in some cases of the erythropoietic type of porphyria. Drug therapy includes the use of phenothiazines, chlorpromazine and promazine in particular. These drugs allay pain and nervousness and apparently allow a period of remission from symptoms. Meperidine hydrochloride (Demerol) may be given for pain and hydroxypheme (Hemetin) is given intravenously to compensate for genetic impairment of heme synthesis.
Patients with porphyria must not be given barbiturates, sulfonamides, alcohol, or chloroquine as these chemicals may precipitate or intensify attacks. It is recommended that persons with this disease carry with them at all times identification saying that they have porphyria so that in an emergency they will not be given medication that could precipitate an attack or even death.acute intermittent porphyria (AIP) a hereditary, autosomal dominant, form of hepatic porphyria manifested by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances, and by excessive amounts of δ-aminolevulinic acid and porphobilinogen in the urine; it is due to an abnormality of pyrrole metabolism. Called also intermittent acute porphyria.congenital erythropoietic porphyria (CEP) a form of erythropoietic porphyria, with cutaneous photosensitivity leading to mutilating lesions, hemolytic anemia, splenomegaly, excessive urinary excretion of uroporphyrin and coproporphyrin, and invariably erythrodontia and hypertrichosis. Called also Günther disease.porphyria cuta´nea tar´da (PCT) the most common form of porphyria, characterized by cutaneous photosensitivity that causes scarring bullae, discoloration, growth of facial hair, and sometimes sclerodermatous thickenings and alopecia; it is frequently associated with alcohol abuse, liver disease, or hepatic siderosis. Urinary levels of uroporphyrin and coproporphyrin are increased. There are two main types: an autosomal dominant (or familial ) form in which activity of the affected enzyme is reduced to half normal in liver, erythrocytes, and fibroblasts; and a sporadic (but probably also familial) form in which the reduction is confined to the liver. Both types are believed to be heterozygous and clinical expression occurs in adulthood, precipitated by disease or environmental factors. A more severe homozygous form begins in childhood and is called hepatoerythropoietic porphyria.erythropoietic porphyria porphyria in which excessive formation of porphyrin or its precursors occurs in bone marrow erythroblasts; the group includes congenital erythropoietic porphyria and erythropoietic protoporphyria.hepatic porphyria porphyria in which the excess formation of porphyrin or its precursors is found in the liver; it includes acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria.hepatoerythropoietic porphyria (HEP) a severe homozygous form of porphyria cutanea tarda believed to result from an autosomal dominant defect in the same enzyme as is affected in porphyria cutanea tarda; it is clinically identical to that disease but onset is in early childhood and enzyme activity in liver, erythrocytes, and fibroblasts is virtually absent.intermittent acute porphyria acute intermittent porphyria.porphyria variega´ta (variegate porphyria (VP)) a hereditary, autosomal dominant, type of hepatic porphyria characterized by chronic cutaneous manifestations, notably extreme mechanical fragility of the skin, particularly areas exposed to the sunlight, and by episodes of abdominal pain and neuropathy. There is typically an excess of coproporphyrin and protoporphyrin in the bile and feces.

por·phyr·i·a

(pōr-fir'ē-ă), A group of disorders involving heme biosynthesis, characterized by excessive excretion of porphyrins or their precursors; may be inherited or acquired, as from the effects of certain chemical agents (for example, hexachlorobenzene).

porphyria

(pôr-fîr′ē-ə)n. Any of several disorders of porphyrin metabolism, usually hereditary, characterized by the presence of large amounts of porphyrins in the blood and urine.

por·phyr′ic adj.

porphyria

Metabolic disease Any of a family of inborn errors of porphyrin metabolism–most commonly acute intermittent porphyria Clinical Confusion, nausea, acute abdominal pain, extreme sensitivity to sunlight resulting in skin lesions; it is acutely exacerbated by alcohol and medications Lab ↑ urinary excretion and circulating levels of porphyrins or precursors–eg, porphobilinogen, δ-aminolevulinic acid. See Acute intermittent porphyria, Congenital erythropoietic porphyria, Erythropoietic porphyria, Porphyria cutanea tarda, Variegate porphyria.

por·phyr·i·a

(pōr-fir'ē-ă) A group of disorders involving heme biosynthesis, characterized by excessive excretion of porphyrins or their precursors; may be acquired, as from the effects of certain chemical agents (e.g., hexachlorobenzene), or inherited.

porphyria

Any of several inherited disorders in which substances called porphyrins accumulate in the body because of a deficiency of certain ENZYMES. Porphyrins are components formed in the course of the synthesis of HAEMOGLOBIN. The effects are numerous. There may be extreme sensitivity to sunlight, sweating, rapid heart rate, abdominal pain, vomiting, constipation, paralysis and other nervous system disturbances including psychotic disorders. In some cases the effects are mainly on the skin and include blistering, scarring and baldness, especially on exposure to light. Treatment is difficult and varies with the different types. Avoidance of sunlight is often important.

Porphyria

Any of a group of disturbances of porphyrin metabolism characterized by excess pophyrins (various biologically active compounds with a distinct structure) in the urine and by extreme sensitivity to light.Mentioned in: Anticonvulsant Drugs, Barbiturates, Benzodiazepines, Hepatitis C, Psychosis, Sulfonamides

Patient discussion about porphyria

Q. I am 21 years old and have porphyira. I am in a crisis now. Its ruining my life. Please help! A. Maybe these will help:
http://www.mayoclinic.org/porphyria/treatment.html
http://www.ehow.com/how_2085933_treat-porphyria.html?ref=fuel&utm_source=yahoo&utm_medium=ssp&utm_campaign=yssp_art
Hope this helps.

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noun a genetic abnormality of metabolism causing abdominal pains and mental confusion

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