Porphyria

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The term " porphyria " is derived from the Greek πορφύρα , porphyra , meaning " purple pigment ". The name is likely to have been a reference to the purple discolouration of feces and urine when exposed to light in patients during an attack Although original descriptions are attributed to Hippocrates , the disease was first explained biochemically by Felix Hoppe- Seyler in 1871 and acute porphyrias were described by the Dutch physician Barend Stokvis in 1889

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The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme . They manifest with either neurological complications or skin problems, or occasionally both. Porphyrias are classified in two ways, by symptoms and by pathophysiology . Symptomatically, acute porphyrias primarily present with nervous system involvement, often with severe abdominal pain , vomiting , neuropathy and mental disturbances. Cutaneous porphyrias present with skin manifestations often after exposure to sun due to the accumulation of excess porphyrins near the surface of the skin. [1] Physiologically, porphyrias are classified as hepatic or erythropoietic based on the sites of accumulation of heme precursors, either in the liver or bone marrow and red blood cells

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Signs and symptoms Acute porphyrias The acute, or hepatic, porphyrias primarily affect the nervous system , resulting in abdominal pain , vomiting , acute neuropathy , muscle weakness, seizures , and mental disturbances, including hallucinations , depression , anxiety , and paranoia . Cardiac arrhythmias and tachycardia (high heart rate) may develop as the autonomic nervous system is affected. Pain can be severe and can, in some cases, be both acute and chronic in nature. Constipation is frequently present, as the nervous system of the gut is affected, but diarrhoea can also occur.

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Cutaneous porphyrias The cutaneous , or erythropoietic , porphyrias primarily affect the skin , causing photosensitivity ( photodermatitis ), blisters , necrosis of the skin and gums, itching, and swelling, and increased hair growth on areas such as the forehead. Often there is no abdominal pain, distinguishing it from other porphyrias . In some forms of porphyria , accumulated heme precursors excreted in the urine may cause various changes in color, after exposure to sunlight, to a dark reddish or dark brown color. Even a purple hue or red urine may be seen.

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It is believed that Mary, Queen of Scots – King George III's great-great-great-great-great-grandmother – also suffered from acute intermittent porphyria ] although this is subject to much debate. It is assumed she inherited the disorder, if indeed she had it, from her father, James V of Scotland ; both father and daughter endured well-documented attacks that could fall within the constellation of symptoms of porphyria . Vlad III was also said to have suffered from acute porphyria , which may have started the notion that vampires were allergic to sunlight

Notable cases :

Notable cases

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The mental illness 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 with a follow-up in 1968, " Porphyria in the Royal Houses of Stuart, Hanover and Prussia 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. Many psychiatrists disagreed with Hunter's diagnosis, suggesting bipolar disorder as far more probable

Mary Stuart c.1578. :

Mary Stuart c.1578.

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