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Encyclopedia > Porphyria
Porphyria
Classification & 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). 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 International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // E00-E35 - Endocrine diseases (E00-E07) Disorders of thyroid gland (E00) Congenital iodine-deficiency syndrome (E01) Iodine-deficiency-related thyroid disorders and allied conditions (E02) Subclinical iodine-deficiency hypothyroidism (E03) Other hypothyroidism (E030) Congenital hypothyroidism with diffuse goitre (E031) Congenital hypothyroidism without goitre (E032) Hypothyroidism due to medicaments and other... // E00-E35 - Endocrine diseases (E00-E07) Disorders of thyroid gland (E00) Congenital iodine-deficiency syndrome (E01) Iodine-deficiency-related thyroid disorders and allied conditions (E02) Subclinical iodine-deficiency hypothyroidism (E03) Other hypothyroidism (E030) Congenital hypothyroidism with diffuse goitre (E031) Congenital hypothyroidism without goitre (E032) Hypothyroidism due to medicaments and other... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... MedlinePlus (medlineplus. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... Ribbon diagram of the enzyme TIM, surrounded by the space-filling model of the protein. ... Structure of Heme b A heme or haem is a prosthetic group that consists of an iron atom contained in the center of a large heterocyclic organic ring called a porphyrin. ... Structure of porphine, the simplest porphyrin. ...


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] This article is about the color. ... Natural Ultramarine pigment in powdered form. ... For other uses, see Hippocrates (disambiguation). ... 1825-1895, German physiologist and chemist. ...

Contents

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. Cardiac arrhythmias and tachycardia (fast 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 diarrhea can also occur. The nervous system of an animal coordinates the activity of the muscles, monitors the organs, constructs and also stops input from the senses, and initiates actions. ... Abdominal pain can be one of the symptoms associated with transient disorders or serious disease. ... Vomiting (also throwing up or emesis) is the forceful expulsion of the contents of ones stomach through the mouth and sometimes the nose. ... Neuropathy is usually short for peripheral neuropathy, meaning a disease of the peripheral nervous system. ... This article is about epileptic seizures. ... A hallucination is a sensory perception experienced in the absence of an external stimulus, as distinct from an illusion, which is a misperception of an external stimulus. ... Clinical depression (also called major depressive disorder, or unipolar depression when compared to bipolar disorder) is a state of intense sadness, melancholia or despair that has advanced to the point of being disruptive to an individuals social functioning and/or activities of daily living. ... Anxiety is a physiological state characterized by cognitive, somatic, emotional, and behavioral components (Seligman, Walker & Rosenhan, 2001). ... For other senses of this word, see paranoia (disambiguation). ... Cardiac arrhythmia is any of a group of conditions in which the electrical activity of the heart is irregular or is faster or slower than normal. ... This article or section does not cite any references or sources. ... This article or section is in need of attention from an expert on the subject. ... Constipation or irregularity, is a condition of the digestive system where a person (or animal) experiences hard feces that are difficult to egest; it may be extremely painful, and in severe cases (fecal impaction) lead to symptoms of bowel obstruction. ... Types 5-7 on the Bristol Stool Chart are often associated with diarrhea Diarrhea (in American English) or diarrhoea (in British English) is a condition in which the sufferer has frequent watery, loose bowel movements (from the Greek word διάρροια; literally meaning through-flowing). Acute infectious diarrhea is a common cause...


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.[4] Lupus erythematosus features photosensitivity, pain attacks and shares various other symptoms with porphyria.[5] Guillain-Barré syndrome (GBS) or acute inflammatory demyelinating polyradiculoneuropathy is an acute, autoimmune disease that affects the peripheral nervous system and is usually triggered by an acute infectious process. ...


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 a yellowing of the skin, conjunctiva (a clear covering over the sclera, or whites of the eyes) and mucous membranes caused by hyperbilirubinemia (increased levels of bilirubin in red blooded animals). ...


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. Fasting can also trigger attacks. Barbituric acid, the basic structure of all barbiturates 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 to anesthesia. ... This article does not cite any references or sources. ... Hormonal contraception refers to birth control methods that act on the hormonal system. ... A sedative is a substance that depresses the central nervous system (CNS), resulting in calmness, relaxation, reduction of anxiety, sleepiness, and slowed breathing, as well as slurred speech, staggering gait, poor judgment, and slow, uncertain reflexes. ... Staphylococcus aureus - Antibiotics test plate. ...


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. Other typical risk factors for liver cancer need not be present, such as hepatitis B or C, iron overload or alcoholic cirrhosis. Hepatocellular carcinoma (HCC, also called hepatoma) is a primary malignancy (cancer) of the liver. ...


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. Often there is no abdominal pain which distinguishes it from other porphyrias. Beyond overall skin structure, refer below to: See-also. ... Photosensitivity is the amount to which an object reacts upon receiving photons of light. ... Photodermatitis is a reaction of the skin to UV rays of the sun. ... For the packaging type, see Blister pack. ...


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.[citation needed]


Diagnosis

Porphyrin studies

Porphyria is diagnosed through spectroscopy and biochemical analysis of blood, urine, and stool.[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.[citation needed] Extremely high resolution spectrogram of the Sun showing thousands of elemental absorption lines (fraunhofer lines) Spectroscopy is the study of the interaction between radiation (electromagnetic radiation, or light, as well as particle radiation) and matter. ... Human blood smear: a - erythrocytes; b - neutrophil; c - eosinophil; d - lymphocyte. ... This article or section is in need of attention from an expert on the subject. ... Look up stool in Wiktionary, the free dictionary. ... Lead poisoning is a medical condition, also known as saturnism, plumbism or painters colic, caused by increased blood lead levels. ... Tyrosinemia (or Tyrosinaemia) is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine, found in most animal and plant proteins. ...


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.[citation needed]


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.[citation needed]


As most porphyrias are rare conditions, general hospital labs typically do not have the expertise, technology or staff time to perform porphyria testing. 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. Samples must be protected from light and either refrigerated or preserved.[6] 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 expect to see more than one case a year. ... In statistics, a false negative, also called a Type II error or miss, exists when a test incorrectly reports that a result was not detected, when it was really present. ...


Additional tests

Further diagnostic tests of affected organs may be required, such as nerve conduction studies for neuropathy or an ultrasound of the liver. Basic biochemical tests may assist in identifying liver disease, hepatocellular carcinoma, and other organ problems. 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 of the human body. ... Medical ultrasonography (sonography) is an ultrasound-based diagnostic imaging technique used to visualize muscles and internal organs, their size, structures and possible pathologies or lesions. ... 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. This article is about modern humans. ... Structure of porphine, the simplest porphyrin. ... Structure of Heme b A heme or haem is a prosthetic group that consists of an iron atom contained in the center of a large heterocyclic organic ring called a porphyrin. ... Structure of hemoglobin. ... An X-ray diffraction image for the protein myoglobin. ... Catalase (human erythrocyte catalase: PDB 1DGF, EC 1. ... Glutathione Peroxidase 1 A peroxidase (eg. ... Cytochromes are generally membrane-bound proteins that contain heme groups and carry out electron transport or catalyse reductive/oxidative reactions. ...

Heme synthesis—note that some reactions occur in the cytoplasm and some in the mitochondrion (yellow)

Deficiency in the enzymes of the porphyrin pathway leads to insufficient production of heme. Heme function plays a central role in cellular metabolism. 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. 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). Image File history File links Heme synthesis File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ... Image File history File links Heme synthesis File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ... Organelles. ... Electron micrograph of a mitochondrion showing its mitochondrial matrix and membranes In cell biology, a mitochondrion (plural mitochondria) is a membrane-enclosed organelle that is found in most eukaryotic cells. ... A few of the metabolic pathways in a cell. ... Neuraminidase ribbon diagram An enzyme (in Greek en = in and zyme = blend) is a protein, or protein complex, that catalyzes a chemical reaction and also controls the 3D orientation of the catalyzed substrates. ... Photosensitivity is the amount to which an object reacts upon receiving photons of light. ... This article or section is in need of attention from an expert on the subject. ... Horse feces Feces, faeces, or fæces (see spelling differences) is a waste product from an animals digestive tract expelled through the anus (or cloaca) during defecation. ...


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. Defects in any of these can lead to some form of porphyria. Ribbon diagram of the enzyme TIM, surrounded by the space-filling model of the protein. ... In cell biology, a mitochondrion is an organelle found in the cells of most eukaryotes. ... The cytosol (cf. ...


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 can refer to: hereditary coproporphyria acute intermittent porphyria porphyria cutanea tarda hepatoerythropoietic porphyria variegate porphyria erythropoietic protoporphyria Porphyrias Erythropoietic porphyria MeSH Porphyrias,+Hepatic Categories: | ... This article is about epileptic seizures. ... Psychosis is a generic psychiatric term for a mental state often described as involving a loss of contact with reality. Stedmans Medical Dictionary defines psychosis as a severe mental disorder, with or without organic damage, characterized by derangement of personality and loss of contact with reality and causing deterioration... Back pain (also known dorsalgia) is pain felt in the back that may originate from the muscles, nerves, bones, joints or other structures in the spine. ... 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. ... Erythropoietic porphyria can refer to: X-linked sideroblastic anemia (XLSA) congenital erythropoietic porphyria (CEP) erythropoietic protoporphyria (EPP) porphyria hepatic porphyria MeSH Erythropoietic+Porphyria Categories: | ... Hypertrichosis is a medical term, also known as Wolfitis, 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. All other porphyrias are either skin- or nerve-predominant. The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Protoporphyrinogen oxidase (EC 1. ...

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

Ribbon diagram of the enzyme TIM, surrounded by the space-filling model of the protein. ... ALA synthase The rate-limiting enzyme in porphyrin and heme biosynthesis is ALA synthase, the enzyme that catalyses glycine and succinyl-CoA into D-Aminolevulinic acid. ... Sex-linked genes are those carried on the mammalian X chromosome but not the Y chromosome. ... Sideroblastic anemia is caused by the abnormal production of red blood cells as part of myelodysplastic syndrome, which can evolve into hematological malignancies (especially acute myelogenous leukemia). ... Chemical used to treat lead poisoning by attaching to elemental lead. ... 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 porphobilinogen into hydroxymethyl bilane. ... Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by a deficiency of the enzyme, porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. ... Uroporphyrinogen III synthase is an enzyme involved in the fourth step of porphyrin metabolism, involved in the converstion of hydroxymethyl bilane into uroporphyrinogen III. Category: ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... UroD drawn from PDB 1URO. Uroporphyrinogen III decarboxylase (UroD) is a homodimeric enzyme (EC 4. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Coproporphyrinogen III oxidase is an enzyme involved in the sixth step of porphyrin metabolism, converting coproporphyrinogen III to protoporphyrinogen IX. Category: ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Protoporphyrinogen oxidase (EC 1. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Ferrochelatase is an enzyme involved in the eighth step of porphyrin metabolism, converting protoporphyrin IX into heme. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ...

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. 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), 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. 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.[citation needed] Hemin is a porphyrin. ... Heme arginate (or haem arginate) is a molecule used in the treatment of porphyria. ...


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.[citation needed]

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. Hot water baths/showers may lessen nausea temporarily, though caution should be used to avoid burns or falls. For other uses, see Nausea (disambiguation). ...

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 is a condition or factor that increases the risk involved in using a particular drug, carrying out a medical procedure or engaging in a particular activity. ...

Neurologic and psychiatric issues

Patients who experience frequent attacks can develop chronic neuropathic pain in extremities as well as chronic pain in the gut. Gut dysmotility, ileus, intussusception, hypoganglionosis, encopresis in children and intestinal pseudo-obstruction have been associated with porphyrias. This is thought to be due to axonal nerve deterioration in affected areas of the nervous system and vagal nerve dysfunction. Neuropathy is a disease of the peripheral nervous system. ... An intussusception is a situation in which a part of the intestine has prolapsed into another section of intestine, similar to the way in which the parts of a collapsible telescope slide into one another. ... Encopresis is involuntary fecal soiling in children who have usually already been toilet trained. ...


In these cases treatment with long-acting opioids may be indicated. Some cases of chronic pain can be difficult to manage and may require treatment using multiple modalities. Opioid dependence may develop. An opioid is any agent that binds to opioid receptors found principally in the central nervous system and gastrointestinal tract. ...


Depression often accompanies the disease and is best dealt with by treating the offending symptoms and if needed the judicious use of anti-depressants. Some psychotropic drugs are porphyrinogenic, limiting the pharmacotherapeutic scope. Look up depression in Wiktionary, the free dictionary. ... ...

Seizures

Seizure often accompany this disease. Most seizure medications exacerbate this condition. Treatment can be problematic: barbiturates especially must be avoided. Some benzodiazepines are safe, and, when used in conjunction with newer anti-seizure medications such as gabapentin offer a possible regime for seizure control. This article is about epileptic seizures. ... Barbituric acid, the basic structure of all barbiturates 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 to anesthesia. ... Alprazolam 2mg tablets The benzodiazepines (pronounced , or benzos for short) are a class of psychoactive drugs considered as minor tranquilizers with varying hypnotic, sedative, anxiolytic, anticonvulsant, muscle relaxant and amnesic properties, which are brought on by slowing down the central nervous system. ... Gabapentin (brand name: Neurontin®) was initially synthesized to mimic the structure of GABA 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.[citation needed]

Underlying liver disease

Some liver diseases may cause porphyria even in the absence of genetic predisposition. These include hemochromatosis and hepatitis C. Treatment of iron overload may be required. Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... This page is for the disease. ...

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 erthrocytes 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. Haemolytic anaemia usually develops. Pharmaceutical-grade beta carotene may be used in its treatment.[8] In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... Hypertrichosis is a medical term, also known as Wolfitis, referring to a condition of excessive body hair. ... Carotene is a terpene, an orange photosynthetic pigment, important for photosynthesis. ...


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. Chloroquine may be used to increase porphyrin secretion in some EPs.[6] Blood transfusion is occasionally used to suppress innate heme production. Sunscreen (also known as sunblock, suntan lotion) is a lotion, spray or other topical product that helps protect the skin from the suns ultraviolet (UV) radiation, and which reduces sunburn and other skin damage, with the goal lowering your risk of skin cancer. ... Chloroquine is a 4-aminoquinoline drug long used in the treatment or prevention of malaria. ... 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 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 Sami people (also Sámi, Saami, Lapps, sometimes also Laplanders) are the indigenous people of Sápmi, which today encompasses parts of northern Sweden, Norway, Finland and the Kola Peninsula of Russia. ... Approximate geographical distribution of areas where indigenous Finno-Ugric languages are spoken. ...


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"[9]) and severe symptoms of depression or catatonia were uselessly and inappropriately treated with electroshock. Electroconvulsive therapy, also known as electroshock or ECT, is a controversial type of psychiatric shock therapy involving the induction of an artificial seizure in a patient by passing electricity through the brain. ...


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.[10] Philip Burne-Jones, The Vampire, 1897 Vampires are mythological or folkloric beings that subsist on human and/or animal lifeforce. ... For other uses, see Werewolf (disambiguation). ... This article does not cite any references or sources. ... David H. Dolphin (born 1940) is a Canadian biochemist. ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... An Anopheles stephensi mosquito obtaining a blood meal from a human host through its pointed proboscis. ...


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"[11], with a follow-up in 1968, "Porphyria in the Royal Houses of Stuart, Hanover and Prussia"[12]. 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[13], which documents the ultimately unsuccessful search for genetic evidence of porphyria in the remains of royals suspected to suffer from it.[14] In 2005 it was suggested that arsenic (which is known to be porphyrogenic) given to George III with antimony may have caused his porphyria.[15] 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. “George III” redirects here. ... General Name, Symbol, Number arsenic, As, 33 Chemical series metalloids Group, Period, Block 15, 4, p Appearance metallic gray Standard atomic weight 74. ... General Name, Symbol, Number antimony, Sb, 51 Chemical series metalloids Group, Period, Block 15, 5, p Appearance silvery lustrous grey Standard atomic weight 121. ... The Madness of King George is a 1994 film which tells the story of King George III of the United Kingdoms deteriorating mental health, and the equally declining relationship between him and his son, the Prince of Wales. ... Published by Faber/Profile Books in 2005 Alan Bennett (born May 9, 1934) is an English author and actor noted for his work, his boyish appearance and his sonorous Yorkshire accent. ... Poster for National Theatre production on tour The Madness of George III is a 1991 play by Alan Bennett. ...


It is also 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. Mary I (popularly known as Mary, Queen of Scots: French: ); (December 8, 1542 – February 8, 1587) was Queen of Scots (the monarch of the Kingdom of Scotland) from December 14, 1542, to July 24, 1567. ... George III (George William Frederick) (4 June 1738–29 January 1820) was King of Great Britain, and King of Ireland from 25 October 1760 until 1 January 1801, and thereafter King of the United Kingdom of Great Britain and Ireland until his death. ...


Other commentators have suggested that Vincent van Gogh may have suffered from acute intermittent porphyria.[16] “van Gogh” redirects here. ...


It has also been imagined that King Nebuchadnezzar of Babylon suffered from some form of porphyria (cf. Daniel 4).[17] 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.[citation needed] Nebuchadnezzar (or Nebudchadrezzar) II (ca. ...


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 (May 7, 1812 – December 12, 1889) was a British poet and playwright whose mastery of dramatic verse, especially dramatic monologues, made him one of the foremost Victorian poets. ... This article or section does not cite its references or sources. ...


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. For the Chilean politician and daughter of Salvador Allende, see Isabel Allende Bussi. ... Paula is a 1995 memoir by Isabel Allende. ...


References

  1. ^ a b Lane, N. Born to the purple: the story of porphyria Scientific American Fulltext.
  2. ^ Hoppe-Seyler F. Das Hämatin. Tubinger Med-Chem Untersuch 1871;4:523–33
  3. ^ Stokvis BJ. Over twee zeldzame kleurstoffen in urine van zieken. Nederl Tijdschr Geneeskd 1889;2:409-417.
  4. ^ Albers JW, Fink JK. Porphyric neuropathy. Muscle Nerve 2004;30:410-22. PMID 15372536.
  5. ^ Roelandts R. The diagnosis of photosensitivity. Arch Dermatol 2000;136:1152-7. PMID 10987875.
  6. ^ a b c d Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria. BMJ 2000;320:1647-51. Fulltext. PMID 10856069.
  7. ^ Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 2005;142:439-50. PMID 15767622.
  8. ^ Martin A Crook.2006. Clinical chemistry and Metabolic Medicine. seventh edition. Hodder Arnold. ISBN 0-340-90616-2
  9. ^ Denver, Joness. "An Encyclopaedia of Obscure Medicine". Published by University Books, Inc., 1959.
  10. ^ Adams C. Did vampires suffer from the disease porphyria--or not? The Straight Dope 7 May 1999 Article.
  11. ^ Ida Macalpine & Richard Hunger, "The Insanity of King George III: A Classic Case of Porphyria", British Medical Journal, 1966, pp. 65-71.
  12. ^ 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.
  13. ^ Röhl, John C.G., Warren Martin,& David Hunt, Purple Secret, Bantam Press, London, 1998 ISBN 0-593-04148-8
  14. ^ The authors demonstrated a single point mutation in the PPOX gene, but not one which has been associated with disease.
  15. ^ 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.
  16. ^ Loftus LS, Arnold WN. Vincent van Gogh's illness: acute intermittent porphyria? BMJ 1991;303:1589-91. PMID 1773180.
  17. ^ Beveridge A. The madness of politics. J R Soc Med 2003;96:602-4. PMID 14645615.
  • Kauppinen R. Porphyrias. Lancet 2005;365:241-52. PMID 15652607.

Scientific American is a popular-science magazine, published (first weekly and later monthly) since August 28, 1845, making it the oldest continuously published magazine in the United States. ... The Lancet is one of the oldest and most respected peer-reviewed medical journals in the world, published weekly by Elsevier, part of Reed Elsevier. ...

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

  Results from FactBites:
 
MedlinePlus: Porphyria (276 words)
The primary NIH organization for research on Porphyria is the National Institute of Diabetes and Digestive and Kidney Diseases
Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme.
Porphyria Cutanea Tarda and Hepatitis C Virus(American Porphyria Foundation)
Postgraduate Medicine: Porphyria cutanea tarda (1638 words)
The term "porphyria" is derived from the Greek word for "purple" and originally referred to the red to purple color of the urine of patients affected by acute intermittent porphyria.
Porphyria cutanea tarda is the most prevalent of the porphyrias and can be acquired sporadically or inherited through autosomal dominant transmission with variable, usually low, penetrance.
Photosensitivity is the hallmark of porphyria cutanea tarda.
  More results at FactBites »

 
 

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