PORPHYRIA

Information about PORPHYRIA

Published on May 23, 2014

Author: drmustansar

Source: authorstream.com

Content

PowerPoint Presentation: Porphyria By DR MUHAMMAD MUSTANSAR PowerPoint Presentation: 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 PowerPoint Presentation: 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 PowerPoint Presentation: 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. PowerPoint Presentation: 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. PowerPoint Presentation: 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 PowerPoint Presentation: 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. PowerPoint Presentation: 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. PowerPoint Presentation: 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. PowerPoint Presentation: 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. PowerPoint Presentation: 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. PowerPoint Presentation: Vlad III was also said to have suffered from acute porphyria, which may have started the notion that vampires were allergic to sunlight PowerPoint Presentation: 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 . PowerPoint Presentation: 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: PowerPoint Presentation: 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. PowerPoint Presentation: Many psychiatrists disagreed with Hunter's diagnosis, suggesting bipolar disorder as far more probable PowerPoint Presentation: Uroporphyrinogen I Coproporphyrinogen I Overview of Heme Synthesis Succinyl CoA + Glycine  -aminolevulinic acid  -aminolevulinic acid Porphobilinogen Uroporphyrinogen III Coproporphyrinogen III Coproporphyrinogen III Protoporphyrinogen IX Protoporphyrin IX Heme ALA synthase cytoplasm mitochondrial matrix PowerPoint Presentation: PORPHYRIAS GLYCINE + SuccinylCoA d -aminolevulinic acid(ALA) Porphobilinogen(PBG) hydroxymethylbilane uroporphyrinogen III coprophyrinogene III Protoporphyrinogene IX protoporphyrin IX Heme ALA synthase ALA dehydratase PBG deaminase Uroporphyrinogen III cosynthase Uroporphyrinogen decarboxylase Coproporphyrinogen oxidase Protoporphyrinogen oxidase Ferrochelatase ALA-dehydratase Deficiency porphyria Acute intermittent porphyria Congenital erythropoietic porphyria Prophyria cutanea tarda Herediatary coproporphyria Variegate porphyria Erythropoietic protoporphyria Mitochondria 9q34 11q23 10q26 1q34 9 1q14 18q21.3 3p21/Xp11.21 Agent Orange PowerPoint Presentation: PORPHYRIA - Definition PowerPoint Presentation: PORPHYRIA – Classification Genetic Acquired PowerPoint Presentation: PORPHYRIA - Classification PowerPoint Presentation: Some symptoms of porphyrias have lead people to believe that these diseases provide some basis for vampire legends: Extreme sensitivity to sunlight Anemia Not a ‘vampire’s’ disease PowerPoint Presentation: This idea has been discarded both for scientific reasons: Porphyrias do not cause a craving for blood. Drinking blood would not help a victim of porphyria And for compasionate reasons:Porphyria is a rare, but frightening condition: hard to diagnose and there is no cure. PowerPoint Presentation: Porphyria in the British and German Royal Families The Madness of Inbreeding SUMMARY OF PORPHYRIAS: SUMMARY OF PORPHYRIAS PowerPoint Presentation: Caused by hereditary or acquired defects in heme synthesis - Accumulation and increased excretion of metabolic precursors (each unique) - Most porphyrias show a prevalent autosomal dominant pattern, except congenital eythropoietic porphyria, which is recessive Porphyrias PowerPoint Presentation: Can be hepatic or erythropoietic, reflecting the two major locations of heme synthesis - hepatic can be acute or chronic PowerPoint Presentation: Those with tetrapyrrole intermediates show photosensitivity due to extended conjugated double bonds - Formation of superoxide radicals - Skin blisters, itches ( pruritis ) - Skin may darken, grow hair ( hypertrichosis ) PowerPoint Presentation: Lead poisoning - inhibition of ferrochelatase and ALA dehydratase - displaces Zn+2 at enzyme active site Acquired Porphyrias PowerPoint Presentation: Children - developmental defects - drop in IQ - hyperactivity - insomnia - many other health problems PowerPoint Presentation: Adults - severe abdominal pain - mental confusion - many other symptoms PowerPoint Presentation: Each type of porphyria is caused by a different enzyme deficiency involved in the production of heme Photosensitivity is caused by the light absorbing properties of the porphyrin ring Biochemistry PowerPoint Presentation: The causes of neurological symptoms present in acute porphyria are still unknown One Study suggests: Overproduction + accumulation of ALA and PBG in nervous tissue lead to toxic effects, neurological symptoms (Kochar et al.2007) Erythropoietic porphyrias (EPP, CPP)cause build up of porphyrins in bone marrow PowerPoint Presentation: Images of Cutaneous Porphyria PowerPoint Presentation: Images of Cutaneous Porphyria PowerPoint Presentation: Skin eruptions in a patient with porphyria cutanea tarda PowerPoint Presentation: Urine from a patient with porphyria cutanea tarda (right) and from a patient with normal porphyrin excretion (left) PowerPoint Presentation: Results of bone marrow transplant in CEP Patient PowerPoint Presentation: The porphyrins are the main precursors of haem, and essential constituents of haemoglobin, myoglobin, the respiratory and P450 liver cytochromes, and of other enzymes (catalases and peroxidases). Disorders of porphyrin metabolism PowerPoint Presentation: Deficiency in porphyrin pathway leads to accumulation of precursors, which are toxic to tissues in high concentration. The chemical properties of these precursors determines the site of tissue accumulation, and whether they induce photosensitivity. PowerPoint Presentation: The porphyrias may be inherited or acquired . They are broadly classified as hepatic porphyrias or erythropoietic porphyrias , based on the site of the overproduction and main accumulation of the porphyrins . They manifest with either skin problems or with neurological complications (or occasionally both) and present either acutely or non acutely. a PowerPoint Presentation: Hepatic porphyrias : are characterized by acute neurological attacks manifesting as seizures, neuropathy, behaviour problems/ pyschosis, and hallucinations. Muscle (back) pain, vomiting, and abdominal pain are also common. PowerPoint Presentation: Acute episodes may be triggered by exposure to certain drugs (e.g. alcohol, oral contraceptive agents, and certain antibiotics) and by other chemicals and certain foods. Fasting can also trigger attacks. PowerPoint Presentation: Erythropoietic porphyrias : present with skin problems, including lights-sensitive blistering rash and increased hair growth. Spectroscopic and biochemical analysis for abnormalities in porphrin metabolite profile in urine and stools is required for diagnosis. In nearly all cases of actue porphyria syndromes, urinary porphobilinogen is markedly elevated (except in ALA dehydratase deficiency). PowerPoint Presentation: Types of porphyria Porphyria type Inheritance/site Enzyme System involved Acute porphyrias Acute AR/hep . ALA- dehydratase Neurovisceral Acute/intermittent AD/hep . Porphobilinogen deaminase Neurovisceral Hereditary coproporphyria AD?hep . Coproporphyrinogen oxidase Neurovisceral + cutaneous Variegate porphyria AD/mixed Protoporphyrinogen oxidase Neurovisceral + Cutaneous PowerPoint Presentation: Types of porphyria Porphyria type Inheritance/site Enzyme System involved Non-acute porphyrias Congenital erythropoietic porphyria AR/ erythro . Uroporphyrinogen III cosynthase Cutaneous Porphyria cutanea tarda AD/ erythro . Uroporphyrinogen decarboxylase Cutaneous Hepatoery thropoietic porphyria AR/ erythro . Uroporphyrinogen decarboxylase Cutaneous Erythropoietic protoporphyria AD/ erythro Ferrochetalase Cutaneous AR. Autosomal recessive; AD, autosomal dominanc hep., hepatic; erythro ., erythropoietic PowerPoint Presentation: Sickled Red Blood Cells

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