Porphyria Classification and external resources
ICD-10	E80.0-E80.2
ICD-9	277.1
MedlinePlus	001208
MeSH	C17.800.849.617

Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings E00-E35 - Endocrine diseases (E00-E07 Thyroid gland / Thyroid hormone ( Congenital iodine-deficiency syndrome ( E00-E35 - Endocrine diseases (E00-E07 Thyroid gland / Thyroid hormone ( Congenital iodine-deficiency syndrome ( The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. MedlinePlus, with the MedlinePlus Medical Encyclopedia, is a website network containing Health information from the world's largest medical Library Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books Enzymes are Biomolecules that catalyze ( ie increase the rates of Chemical reactions Almost all enzymes are Proteins A heme ( American English) or haem ( British English) is a Prosthetic group that consists of an Iron atom contained in the center of A porphyrin is a heterocyclic Macrocycle derived from four Pyrroline subunits interconnected via their α carbon atoms via Methine bridges (=CH- They are broadly classified as hepatic porphyrias or erythropoietic porphyrias, based on the site of the overproduction and mainly accumulation of the porphyrins (or their chemical precursors). They manifest with either skin problems or with neurological complications (or occasionally both).

The term derives from the Greek πορφύρα, porphura, meaning "purple pigment". Greek (el ελληνική γλώσσα or simply el ελληνικά — "Hellenic" is an Indo-European language, spoken today by 15-22 million people mainly Purple is a general term for the range of shades of Color occurring between Red and Blue. For the drug referred to as "pigment" see Black tar heroin. 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. Hippocrates of Cos II or Hippokrates of Kos ( ca. 460 BC – ca Ernst Felix Immanuel Hoppe-Seyler (December 26 1825 &ndash August 10 1895 was a German Physiologist and Chemist. J. Stokvis in 1889. ^[3][1]

Contents 1 Signs and symptoms 1.1 Acute porphyria 1.2 Cutaneous porphyria 2 Diagnosis 2.1 Porphyrin studies 2.2 Additional tests 3 Pathogenesis 4 Treatment 4.1 Acute porphyria 4.2 Erythropoietic porphyrias 5 Culture and history 5.1 Vampires and werewolves 6 Famous cases 7 References 8 See also 9 External links

Signs and symptoms

Acute porphyria

The hepatic porphyrias primarily affect the nervous system, resulting in abdominal pain, vomiting, acute neuropathy, seizures and mental disturbances, including hallucinations, depression, anxiety and paranoia. The nervous system is a Network of specialized cells that communicate information about an animal's surroundings and itself Abdominal pain can be one of the Symptoms associated with transient disorders or serious disease Vomiting (also called throwing up, emesis) is the forceful expulsion of the contents of one's Stomach through the Mouth and sometimes the Neuropathy is a medical term usually short for Peripheral neuropathy. An epileptic seizure is caused by excessive and/or hypersynchronous electrical Neuronal activity and is usually self-limiting A hallucination, in the broadest sense is a Perception in the absence of a stimulus. Major depressive disorder, also known as major depression, unipolar depression, unipolar disorder, clinical depression, or simply depression Anxiety is a physiological and psychological state characterized by Cognitive, Somatic, Emotional and Behavioral components Paranoia is a disturbed thought process characterized by excessive Anxiety or Fear, often to the point of Irrationality and Delusion. Cardiac arrhythmias and tachycardia (fast heart rate) may develop as the autonomic nervous system is affected. Dysrhythmia redirects here For the American band see Dysrhythmia (band. &trade The autonomic nervous system ( ANS) (or visceral nervous system) is the part of the Peripheral nervous system that acts as a Control 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 diarrhea can also occur. Constipation, costiveness, or irregularity, is a condition of the Digestive system in which a person (or animal experiences hard Feces that In Medicine, diarrhea, also spelled diarrhoea (see spelling differences) is frequent loose or liquid Bowel movements Acute diarrhea

Given the many presentations and the relatively uncommon occurrence of porphyria the patient may initially be suspected to have other, unrelated conditions. For instance, the polyneuropathy of acute porphyria may be mistaken for Guillain-Barré syndrome, and porphyria testing is commonly recommended in those scenarios. Guillain-Barré syndrome ( GBS) (in French ɡilɛ̃ baˈʁe in English ˈɡiːlæn ˈbɑreɪ /ɡiːˈæn bəˈreɪ/ etc ^[4] Lupus erythematosus features photosensitivity, pain attacks and shares various other symptoms with porphyria. Systemic lupus erythematosus ( SLE or lupus,) is a chronic autoimmune disease that can be fatal though with recent medical advances fatalities are becoming ^[5]

Not all porphyrias are genetic, and patients with liver disease who develop porphyria as a result of liver dysfunction may exhibit signs of their conditions, such as jaundice. Jaundice, also known as icterus (attributive adjective "icteric" is yellowish discoloration of the Skin, sclerae (whites of the eyes

Attacks of the disease can be triggered by drugs (e. g. barbiturates, alcohol, sulfa drugs, hormonal contraception, sedatives and certain antibiotics), other chemicals and certain foods. Barbiturates are drugs that act as central nervous system Depressants and by virtue of this they produce a wide spectrum of effects from mild Sedation In Chemistry, an alcohol is any Organic compound in which a Hydroxyl group ( - O[[hydrogen H]]) is bound to a Carbon Hormonal contraception refers to Birth control methods that act on the hormonal system A sedative, or more specifically a sedative-hypnotic, is a substance that depresses the Central nervous system (CNS resulting in calmness relaxation sleepiness In modern usage an antibiotic is a Chemotherapeutic agent with activity against Microorganisms such as Bacteria, fungi or Protozoa Fasting can also trigger attacks.

Patients with hepatic porphyrias (PCT, AIP, HCP, VP) are at increased risk over their life for hepatocellular carcinoma (primary liver cancer) and may require monitoring. Porphyria cutanea tarda (PCT is the most common subtype of Porphyria. Acute intermittent porphyria ( AIP) is a rare Autosomal dominant metabolic disorder affecting the production of Heme, the oxygen-binding Hereditary coproporphyria (HCP is a form of hepatic Porphyria associated with a deficiency of the enzyme Coproporphyrinogen III oxidase. Variegate porphyria is an Autosomal dominant Porphyria that can have acute (severe but usually not long-lasting symptoms along with symptoms that affect the Hepatocellular carcinoma (HCC also called hepatoma) is a primary malignancy (cancer of the Liver. Other typical risk factors for liver cancer need not be present, such as hepatitis B or C, iron overload or alcoholic cirrhosis.

Cutaneous porphyria

The 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. The skin is the outer covering of living tissue of an animal (or plant Photosensitivity is the amount to which an object reacts upon receiving Photons especially Visible light. Photodermatitis, or sometimes called by the nonscientific term sun poisoning, is a reaction of the Skin to UV rays of the Sun, or Photoallergy A blister is a small pocket of fluid within the upper layers of the skin 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 pink urine may be seen. Heme precursors may also accumulate in the teeth and fingernails, giving them a reddish appearance.

Diagnosis

Porphyrin studies

Porphyria is diagnosed through spectroscopy and biochemical analysis of blood, urine, and stool. Spectroscopy was originally the study of the interaction between Radiation and Matter as a function of Wavelength (λ Blood is a specialized Bodily fluid that delivers necessary substances to the body's cells ��such as nutrients and oxygen—and transports Waste products Urine is a liquid waste product of the body secreted by the Kidneys by a process of filtration from Blood and Excreted through the Urethra. ^[6] In general, urine estimation of porphobilinogen (PBG) is the first step if acute porphyria is suspected. As a result of feedback, the decreased production of heme leads to increased production of precursors, PBG being one of the first substances in the porphyrin synthesis pathway. ^[7] In nearly all cases of acute porphyria syndromes, urinary PBG is markedly elevated except for the very rare ALA dehydratase deficiency or in patients with symptoms due to lead poisoning or hereditary tyrosinemia type I. Lead poisoning (also known as saturnism, plumbism, or painter's colic) is a medical condition caused by increased levels of the metal Lead in Tyrosinemia (or "Tyrosinaemia" is an error of Metabolism, usually inborn in which the body cannot effectively break down the Amino acid Tyrosine

Repeat testing during an attack and subsequent attacks may be necessary in order to detect a porphyria, as levels may be normal or near-normal between attacks. The urine screening test has been known to fail in the initial stages of a severe life threatening attack of acute intermittent porphyria.

The bulk (up to 90%) of the genetic carriers of the more common, dominantly inherited acute hepatic porphyrias (acute intermittent porphyria, hereditary coproporphyria, variegate porphyria) have been noted in DNA tests to be latent for classic symptoms and may require DNA or enzyme testing. The exception to this may be latent postpuberty genetic carriers of hereditary coproporphyria.

As most porphyrias are rare conditions, general hospital labs typically do not have the expertise, technology or staff time to perform porphyria testing. A rare disease (sometimes known as an orphan disease has such a low Prevalence in a population that a doctor in a busy General practice would not In general, testing involves sending samples of blood, stool and urine to a reference laboratory. ^[6] All samples to detect porphyrins must be handled properly. Samples should be taken during an acute attack, otherwise a false negative result may occur. In Statistics, the terms Type I error (also α error, or false positive) and type II error ( β error, or a false negative Samples must be protected from light and either refrigerated or preserved. ^[6]

Additional tests

Further diagnostic tests of affected organs may be required, such as nerve conduction studies for neuropathy or an ultrasound of the liver. A nerve conduction study (NCS is a test commonly used to evaluate the function especially the ability of Electrical conduction, of the motor and Sensory nerves Basic biochemical tests may assist in identifying liver disease, hepatocellular carcinoma, and other organ problems. Hepatocellular carcinoma (HCC also called hepatoma) is a primary malignancy (cancer of the Liver.

Pathogenesis

In humans, porphyrins are the main precursors of heme, an essential constituent of hemoglobin, myoglobin, catalase, peroxidase, respiratory and P450 liver cytochromes. Human beings, humans or man (Origin 1590–1600 L homō man OL hemō the earthly one (see Humus A porphyrin is a heterocyclic Macrocycle derived from four Pyrroline subunits interconnected via their α carbon atoms via Methine bridges (=CH- A heme ( American English) or haem ( British English) is a Prosthetic group that consists of an Iron atom contained in the center of Hemoglobin ( also spelled haemoglobin and abbreviated Hb or Hgb) is the Iron -containing Oxygen -transport Metalloprotein Myoglobin is a single-chain globular Protein of 153 Amino acids containing a Heme ( Iron -containing Porphyrin) Prosthetic Catalase is a common Enzyme found in nearly all living organisms where it functions to catalyze the decomposition of Hydrogen peroxide to Peroxidases ( EC number 1111x are a large family of Enzymes A majority of peroxidase protein sequences can be found in the PeroxiBase database Cytochromes are in general membrane-bound Hemoproteins that contain Heme groups and carry out Electron transport.

Deficiency in the enzymes of the porphyrin pathway leads to insufficient production of heme. The cytoplasm is the contents of a cell that is enclosed within the Plasma membrane. In Cell biology, a mitochondrion (plural mitochondria) is a membrane-enclosed Organelle found in most eukaryotic cells. Heme function plays a central role in cellular metabolism. Metabolism is the set of Chemical reactions that occur in living Organisms in order to maintain Life. This is not the main problem in the porphyrias; most heme synthesis enzymes—even dysfunctional enzymes—have enough residual activity to assist in heme biosynthesis. Enzymes are Biomolecules that catalyze ( ie increase the rates of Chemical reactions Almost all enzymes are Proteins The principal problem in these deficiencies is the accumulation of porphyrins, the heme precursors, which are toxic to tissue in high concentrations. The chemical properties of these intermediates determine the location of accumulation, whether they induce photosensitivity, and whether the intermediate is excreted (in the urine or feces). Photosensitivity is the amount to which an object reacts upon receiving Photons especially Visible light. Urine is a liquid waste product of the body secreted by the Kidneys by a process of filtration from Blood and Excreted through the Urethra. Feces, faeces, or fæces (see spelling differences) is a waste product from an animal's digestive tract expelled through the Anus

There are eight enzymes in the heme biosynthetic pathway, four of which—the first one and the last three—are in the mitochondria, while the other four are in the cytosol. Enzymes are Biomolecules that catalyze ( ie increase the rates of Chemical reactions Almost all enzymes are Proteins In Cell biology, a mitochondrion (plural mitochondria) is a membrane-enclosed Organelle found in most eukaryotic cells. The cytosol or intracellular fluid (or cytoplasmic matrix) is the liquid found inside cells. Defects in any of these can lead to some form of porphyria.

The hepatic porphyrias are characterized by acute neurological attacks (seizures, psychosis, extreme back and abdominal pain and an acute polyneuropathy), while the erythropoietic forms present with skin problems, usually a light-sensitive blistering rash and increased hair growth. Hepatic porphyrias is a form of Porphyria which primarily affect the liver An epileptic seizure is caused by excessive and/or hypersynchronous electrical Neuronal activity and is usually self-limiting Psychosis (from the Greek ψυχή "psyche" for mind or soul and -οσις "-osis" for abnormal condition with adjective psychotic Back pain (also known " dorsalgia " is Pain felt in the back that usually originates from the Muscles Nerves Bones Abdominal pain can be one of the Symptoms associated with transient disorders or serious disease Polyneuropathy is a Neurological disorder that occurs when many Peripheral nerves throughout the body malfunction simultaneously Hypertrichosis, congenital generalized Hypertrichosis or werewolf syndrome is a medical term referring to a condition of excessive body Hair.

Variegate porphyria (also porphyria variegata or mixed porphyria), which results from a partial deficiency in PROTO oxidase, manifests itself with skin lesions similar to those of porphyria cutanea tarda combined with acute neurologic attacks. Variegate porphyria is an Autosomal dominant Porphyria that can have acute (severe but usually not long-lasting symptoms along with symptoms that affect the Protoporphyrinogen oxidase ( is an Enzyme that is responsible for the seventh step in Heme production All other porphyrias are either skin- or nerve-predominant.

Enzyme	Location of enzyme	Associated porphyria	Type of porphyria
δ-aminolevulinate (ALA) synthase	Mitochondrion	X-linked sideroblastic anemia (XLSA)	Erythropoietic
δ-aminolevulinate (ALA) dehydratase	Cytosol	Doss porphyria/ALA dehydratase deficiency	Hepatic
hydroxymethylbilane (HMB) synthase (or PBG deaminase)	Cytosol	acute intermittent porphyria (AIP)	Hepatic
uroporphyrinogen (URO) synthase	Cytosol	Congenital erythropoietic porphyria (CEP)	Erythropoeitic
uroporphyrinogen (URO) decarboxylase	Cytosol	Porphyria cutanea tarda (PCT)	Hepatic
coproporphyrinogen (COPRO) oxidase	Mitochondrion	Hereditary coproporphyria (HCP)	Hepatic
protoporphyrinogen (PROTO) oxidase	Mitochondrion	Variegate porphyria (VP)	Mixed
Ferrochelatase	Mitochondrion	Erythropoietic protoporphyria (EPP)	Erythropoietic

Treatment

Acute porphyria

Carbohydrates and heme

Often, empirical treatment is required if the diagnostic suspicion of a porphyria is high since acute attacks can be fatal. Enzymes are Biomolecules that catalyze ( ie increase the rates of Chemical reactions Almost all enzymes are Proteins The rate-limiting enzyme in Porphyrin and Heme biosynthesis is ALA synthase, the enzyme ( that catalyses Glycine and Succinyl-CoA into Sex linkage is the phenotypic expression of an Allele that is related to the chromosomal sex of the individual Sideroblastic anemia is caused by abnormal production of Red blood cells (erythrocytes usually as part of Myelodysplastic syndrome, which can evolve into hematological Porphobilinogen synthase (or ALA dehydratase, or Aminolevulinate dehydratase) synthesizes Porphobilinogen through the asymmetric Condensation ALA ( D-Aminolevulinic acid) dehydratase deficiency is a type of hepatic Porphyria. Porphobilinogen deaminase (or hydroxymethylbilane synthase) is an Enzyme involved in the third step of the metabolism of Porphyrin, converting Acute intermittent porphyria ( AIP) is a rare Autosomal dominant metabolic disorder affecting the production of Heme, the oxygen-binding Uroporphyrinogen III synthase is an Enzyme involved in the fourth step of Porphyrin metabolism involved in the conversion of Hydroxymethyl bilane into Porphyrias are a group of inherited or acquired disorders of certain Enzymes in the Heme biosynthetic pathway (also called Porphyrin pathway Uroporphyrinogen decarboxylase, also known as UROD, is a human Gene. Porphyria cutanea tarda (PCT is the most common subtype of Porphyria. Coproporphyrinogen oxidase, also known as CPOX, is a human Gene. Hereditary coproporphyria (HCP is a form of hepatic Porphyria associated with a deficiency of the enzyme Coproporphyrinogen III oxidase. Protoporphyrinogen oxidase ( is an Enzyme that is responsible for the seventh step in Heme production Variegate porphyria is an Autosomal dominant Porphyria that can have acute (severe but usually not long-lasting symptoms along with symptoms that affect the Ferrochelatase (FECH protoheme ferrolyase is an enzyme that catalyses the terminal (eighth step in the biosynthesis of Heme, converting Protoporphyrin IX into Erythropoietic protoporphyria (EPP is a relatively mild form of Porphyria, although very painful which arises from a deficiency in the enzyme Ferrochelatase, leading A high-carbohydrate diet is typically recommended; in severe attacks, a glucose 10% infusion is commenced, which may aid in recovery. Glucose (Glc a Monosaccharide (or simple Sugar) also known as grape sugar, is an important Carbohydrate in Biology.

Hematin and haem arginate are the drugs of choice in acute porphyria, in the United States and the United Kingdom, respectively. Hemin (trade name Panhematin) is an Iron -containing Porphyrin. Heme arginate (or haem arginate) is a molecule used in the treatment of Porphyria. The United States of America —commonly referred to as the The United Kingdom of Great Britain and Northern Ireland, commonly known as the United Kingdom, the UK or Britain,is a Sovereign state located These drugs need to be given very early in an attack to be effective; effectiveness varies amongst individuals. They are not curative drugs but can shorten attacks and reduce the intensity of an attack. Side effects are rare but can be serious. These heme-like substances theoretically inhibit ALA synthase and hence the accumulation of toxic precursors. In the United Kingdom, supplies of this drug are maintained at two national centers. In the United States, one company manufactures Panhematin for infusion. The American Porphyria Foundation has information regarding the quick procurement of the drug. ^[8]

Any sign of low blood sodium (hyponatremia) or weakness should be treated with the addition of hematin or heme arginate as these are signs of impending syndrome of inappropriate antidiuretic hormone (SIADH) or peripheral nervous system involvement that may be localized or severe progressing to bulbar paresis and respiratory paralysis.

Precipitating factors

If drugs or hormones have caused the attack, discontinuing the offending substances is essential. Infection is one of the top causes of attacks and requires vigorous treatment. An infection is the detrimental Colonization of a host Organism by a foreign Species.

Symptom control

Pain is extremely severe, frequently out of proportion to physical signs and almost always requires the use of opiates to reduce it to tolerable levels. Pain should be treated early as medically possible due to its severity. Nausea can be severe; it may respond to phenothiazine drugs but is sometimes intractable. Nausea ( Latin: Nausea, Greek:, " Sea-sickness " also called wamble) is the sensation of unease and discomfort Hot water baths/showers may lessen nausea temporarily, though caution should be used to avoid burns or falls.

Early identification

Patients with a history of acute porphyria and even genetic carriers are recommended to wear an alert bracelet or other identification at all times in case they develop severe symptoms or in case of accidents where there is a potential for drug exposure: a result of which may be they cannot explain to healthcare professionals about their condition and the fact that some drugs are absolutely contraindicated. In Medicine, a contraindication (pronounced as contra-indication is a condition or factor that increases the Risks involved in using a particular drug,

Neurologic and psychiatric issues

Patients who experience frequent attacks can develop chronic neuropathic pain in extremities as well as chronic pain in the gut. Neuropathy is a medical term usually short for Peripheral neuropathy. Gut dysmotility, ileus, intussusception, hypoganglionosis, encopresis in children and intestinal pseudo-obstruction have been associated with porphyrias. An intussusception (a blockage of the intestine is a medical condition in which a part of the small Intestine has invaginated into another section of intestine similar to the Encopresis, from the Greek κοπρος (kopros dung) is involuntary "fecal soiling" in children who have usually already been toilet trained. This is thought to be due to axonal nerve deterioration in affected areas of the nervous system and vagal nerve dysfunction.

In these cases treatment with long-acting opioids may be indicated. An opioid is a chemical Substance that has a Morphine -like action in the body Some cases of chronic pain can be difficult to manage and may require treatment using multiple modalities. Opioid dependence may develop.

Depression often accompanies the disease and is best dealt with by treating the offending symptoms and if needed the judicious use of anti-depressants. Major depressive disorder, also known as major depression, unipolar depression, unipolar disorder, clinical depression, or simply depression An antidepressant is a Psychiatric medication used for alleviating major depression or Dysthymia ('milder' depression Some psychotropic drugs are porphyrinogenic, limiting the pharmacotherapeutic scope.

Seizures

Seizure often accompany this disease. An epileptic seizure is caused by excessive and/or hypersynchronous electrical Neuronal activity and is usually self-limiting Most seizure medications exacerbate this condition. Treatment can be problematic: barbiturates especially must be avoided. Barbiturates are drugs that act as central nervous system Depressants and by virtue of this they produce a wide spectrum of effects from mild Sedation Some benzodiazepines are safe, and, when used in conjunction with newer anti-seizure medications such as gabapentin offer a possible regime for seizure control. The benzodiazepines (pronounced, often abbreviated to "benzos") are a class of Psychoactive drugs with varying Hypnotic Gabapentin (brand name Neurontin) is a medication originally developed for the treatment of Epilepsy.

Magnesium sulfate and bromides have also been used in porphyria seizures, however, development of status epilepticus in porphyria may not respond to magnesium alone. The addition of hematin or heme arginate has been used during status epilepticus.

Underlying liver disease

Some liver diseases may cause porphyria even in the absence of genetic predisposition. These include hemochromatosis and hepatitis C. Haemochromatosis, also spelled hemochromatosis (see spelling differences) also called siderophilia Hepatitis C is a blood-borne infectious disease that is caused by the Hepatitis C virus ( HCV) affecting the Liver. Treatment of iron overload may be required.

Hormone treatment

Hormonal fluctuations that contribute to cyclical attacks in women have been treated with oral contraceptives and luteinizing hormones to shut down menstrual cycles. However, oral contraceptives have also triggered photosensitivity and withdrawal of oral contraceptives has triggered attacks. Androgens and fertility hormones have also triggered attacks.

Erythropoietic porphyrias

These are associated with accumulation of porphyrins in erythrocytes and are rare. The rarest is Congenital erythropoetic porphyria (C. E. P) otherwise known as Gunther's disease. Its rarity is partially due to its autosomal recessive mode of inheritance. The signs may present from birth and include severe photosensitivity, brown teeth that fluoresce in ultraviolet light due to deposition of type one porphyrins and later hypertrichosis. Hypertrichosis, congenital generalized Hypertrichosis or werewolf syndrome is a medical term referring to a condition of excessive body Hair. Haemolytic anaemia usually develops. Pharmaceutical-grade beta carotene may be used in its treatment. Beta-carotene is an Organic compound - a Terpenoid, a red-orange pigment abundant in plants and fruits ^[9] A bone marrow transplant has also been successful in curing CEP in a few cases, although long term results are not yet available. ^[10]

The pain, burning, swelling and itching that occur in erythropoietic porphyrias generally require avoidance of bright sunlight. Most kinds of sunscreen are not effective, but SPF-rated long-sleeve shirts, hats, bandanas and gloves can help. Sunscreen (also known as sunblock or suntan lotion) is a Lotion, spray or other Topical product that absorbs or reflects the Sun 's Chloroquine may be used to increase porphyrin secretion in some EPs. Chloroquine is a 4-aminoquinoline drug used in the treatment or prevention of Malaria. ^[6] Blood transfusion is occasionally used to suppress innate heme production. Blood transfusion is the process of transferring Blood or blood-based products from one person into the Circulatory system of another

Culture and history

Porphyrias have been detected in all races, multiple ethnic groups on every continent including Africans, Asians, Australian aborigines, Caucasians, Peruvian/Mexican Hispanics, Native Americans, and Sami. The term African people can refer to people who live in Africa, or people who trace their ancestry to Indigenous inhabitants of Africa. Asian or Asiatic is a Demonym for people from Asia. However the use of the term varies by country and person often referring to people from a particular This is an article about a class of people as identified and defined within Australian law Peru (Perú Piruw Piruw officially the Republic of Peru ( reˈpuβlika del peˈɾu is a country in western South America. The United Mexican States ( or commonly Mexico (ˈmɛksɪkoʊ () is a federal constitutional Republic in North America. Hispanic (hispano hispánico hispânico Hispānus adjective from ''Hispānia'', the Roman name for the Iberian Peninsula) is a term that historically For indigenous peoples in the United States other than Hawaii and Alaska see also Native Americans in the United States. SAMI (Synchronized Accessible Media Interchange is a Microsoft accessibility initiative released in 1998 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. The Sami people are the Indigenous people of northern Europe inhabiting Sápmi, which today encompasses parts of northern Sweden, Norway

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"^[11]) and severe symptoms of depression or catatonia were uselessly and inappropriately treated with electroshock. Electroconvulsive therapy ( ECT) also known as electroshock, is a controversial psychiatric treatment in which Seizures are electrically induced

Vampires and werewolves

Porphyria has been suggested as an explanation for the origin of vampire and werewolf legends, based upon certain similarities between the condition and the folklore. Vampires are mythological or folkloric revenants who subsist by feeding on the blood of the living See also Lycanthropy (disambiguation Werewolves, also known as lycanthropes, are mythological or folkloric humans with the ability to History The concept of folklore developed as part of the 19th century ideology of Romantic nationalism, leading to the reshaping of oral traditions to serve modern ideological

In January 1964, L. Illis' 1963 paper, "On Porphyria and the Ætiology of Werwolves", was published in Proceedings of the Royal Society of Medicine. Proceedings of the Royal Society of Medicine was the journal of the Royal Society of Medicine between 1908 and 1977 Later, Nancy Garden made a connection between porphyria and the vampire belief in her 1973 book, Vampires. Nancy Garden (born May 15, 1938 in Boston Massachusetts) is an American Author of children's and young adult literature However, in 1985, biochemist David Dolphin's paper for the American Association for the Advancement of Science, "Porphyria, Vampires, and Werewolves: The Aetiology of European Metamorphosis Legends", gained widespread media coverage, thus popularizing the connection. David H Dolphin (born 1940 is a Canadian Biochemist. He is an internationally recognized expert in Porphyrin chemistry and biochemistry The American Association for the Advancement of Science (or AAAS) is an organization that promotes cooperation between Scientists defends scientific freedom encourages

The theory has since faced heavy criticism, especially for the stigma it has placed on its sufferers. Norine Dresser's American Vampires: Fans, Victims, Practitioners (1989) treats the matter with more depth. The theory also operates on a highly-flawed premise: mainly in regards to a perceived harmful effect sunlight had on vampires. But this is a much more recent innovation in vampire "lore": its origin is from 1922, with the release of vampire movie, Nosferatu, eine Symphonie des Grauens. Nosferatu A Symphony of Horror is a German Expressionist film by F

Porphyria cutanea tarda presents clinically as a pathological sensitivity of skin exposed to light causing scarring, hair growth and disfiguration. Porphyria cutanea tarda (PCT is the most common subtype of Porphyria. Additionally, it was believed that the patients' missing heme could be absorbed through the stomach, correlating with the legends' hematophagy. ^[12]

Famous cases

The insanity exhibited by King George III evidenced in the regency crisis of 1788 has inspired several attempts at retrospective diagnosis. George III (George William Frederick 4 June 1738 George III's long reign was marked by a series of military conflicts involving his kingdom much of the rest of Europe and places The first, written in 1855, thirty-five years after his death, concluded he suffered from acute mania. Mania (from Greek μανία and that from μαίνομαι - mainomai, "to rage to be furious" is a severe medical condition 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",^[13] with a follow-up in 1968, "Porphyria in the Royal Houses of Stuart, Hanover and Prussia". ^[14] 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,^[15] which documents the ultimately unsuccessful search for genetic evidence of porphyria in the remains of royals suspected to suffer from it. ^[16] In 2005 it was suggested that arsenic (which is known to be porphyrogenic) given to George III with antimony may have caused his porphyria. Arsenic (ˈɑrsənɪk is a Chemical element that has the symbol As and Atomic number of 33 Antimony (IPA (Received Pronunciation, /ˈæntɪmoʊni/ (US is a Chemical element with the symbol Sb (stibium meaning "mark" and ^[17] 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. This article is about the 1994 film For the play by Alan Bennett see The Madness of George III (play and for a 2004 political satire see The Madness of King George Alan Bennett (born 9 May 1934 is an English Author and Tony Award -winning Playwright. The Madness of George III is a 1991 play by Alan Bennett. It is a fictionalised biographical study of the latter half of the reign of George The closing credits include the comment that the illness suffered by King George has been attributed to porphyria.

It is believed that Marie Stuart, Queen of Scots--King George III's grandmother six times removed--also suffered from acute intermittent porphyria, although this is subject to much debate. George III (George William Frederick 4 June 1738 George III's long reign was marked by a series of military conflicts involving his kingdom much of the rest of Europe and places 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. ^[18]

It has also been imagined that King Nebuchadnezzar of Babylon suffered from some form of porphyria (cf. Nebuchadrezzar II, more often called Nebuchadnezzar (c 630-562 BC was a ruler of Babylon in the Chaldean Dynasty, who reigned c Daniel 4). ^[19] 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. Robert Browning (7 May 1812 - 12 December 1889 was an English poet and playwright whose mastery of Dramatic verse, especially Dramatic monologues made him one of Porphyria's Lover is the last poem by Robert Browning that was first published as "Porphyria" in the January 1841 issue of Monthly Repository.

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. Isabel Allende Llona, (born in Lima, Peru; 2 August 1942 is a Chilean American Novelist. Paula is a 1995 memoir by Isabel Allende. She wrote it while tending to her daughter Paula Frias Allende who was in a coma from complications of the disease

References

See also

• Julia Gnuse

External links

• American Porphyria Foundation
• European Porphyria Initiative
• Porphynet - site on porphyrins and the porphyrias
• The Drug Database for Acute Porphyria - comprehensive database on drug porphyrinogenicity

Julia Gnuse, commonly known by the nickname The Illustrated Lady, holds the Guinness Record for being the most tattooed woman in the world having coverage

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