Protoporfiria erythropoietic

Protoporfiria erythropoietic Erythropoietic Protoporfiria is a genetic disorder caused by alterations in activity ferochelazelor, heme biosynthesis enzymes. The result is excess accumulation of protoporphyrin, forcing two major manifestations: cutaneous photosensitivity and hepatobiliary disease. Rarely a mutation or deletion of the gene gained ferochelazelor secondary myeloproliferative disorders or myelodysplastic lead to adult onset disease protoporphyrin.
Clinic patients complain of discomfort sensations of skin exposed to sunlight. Prolonged exposure can trigger swelling of the skin with or without redness, the appearance of petechiae. Patients develop vesicular lithiasis who remain silent or cause indigestion and abdominal pain right upper quadrant. Hepatotoxicity consists of appetite, nausea, vomiting and weakness, weight loss, jaundice. Reduced tolerance to painful skin photosensitivity of sun and erythropoietic protoporfirie people can influence lifestyle. The incidence of cholelithiasis increases. Hepatotoxic effects of excess protoporphyrin leads to liver dysfunction that progresses to severe.
For protoporfiria uncomplicated gallstones main problem with solar is intolerance. Anemia is generally mild and rarely require specific therapy. Cholelithiasis treated surgically. For photosensitivity using sunscreen, beta-carotene, phototherapy with ultraviolet A and B. In the absence of liver failure patients have a normal life expectancy.
Pathogenesis
Protoporphyrin is a lipophilic molecule capable of transforming the stage excited by absorbing light energy. Thus mediate photooxidative injury of the skin, forcing immediate phototoxic symptoms described as burning, stinging, followed by erythema, edema and purpura. Excess protoporphyrin is formed by maturation of bone marrow erythroid cells and is present at high levels in reticulocytes and young erythrocytes. Erythrocyte protoporphyrin in the plasma escapes from the liver which is purified and excreted in the bile. Protoporphyrin ball high in people prone to the formation of gallstones. Toxic effects of protoporphyrin in the liver can lead to life-threatening liver dysfunction.
Signs and symptoms
Fotocutanate Symptoms usually appear during childhood but can be noted for the first time at the age of adulthood. Gallstones can become asymptomatic in middle age. Liver failure and its complications are severe enough to require liver transplantation. Discomfort of sun-exposed skin typically begins in childhood, most frequently affecting the dorsal hands, face and occasionally the ears and short legs after exposure. If the exposure is long or contain repetitive days can trigger swelling with or without erythema of the skin. This painful reaction resolves within a few days and let the normal looking skin.
It may develop chronic changes suggestive. Protoporfirie People who experience pain but minimal physical elements can be considered a silent until the occurrence of acute reactions. Vesicular stones remain silent or predispose to indigestion and abdominal pain right quadrant. People with anorexia accused protoporfirie associated with hepatotoxicity, nausea and vomiting, weakness and fatigue, malaise, weight loss, epigastric pain and jaundice.
Physical examination. Acute phototoxic reaction include swelling, redness and petechiae. Vesicles, erosions and scarring occurs crust but are less florid and frequently than other porphyrias. Chronic changes include longitudinal depression on facial skin, especially on the nose, perioral, premature aging, wrinkles, skin has endured on the dorsal hands, especially at the joints. In more severe cases develop a mercy waxy face and hands. When is this mechanical fragility is less severe than other porphyrias, hypertrichosis is uncommon. With the progression of liver dysfunction may develop hepatomegaly and jaundice. End-stage liver disease is indicated by intense jaundice, ascites, vomiting, fever, encephalopathy, neuropathy that may progress to paresis and respiratory failure, and variceal bleeding by extreme photosensitivity.
Diagnosis
Laboratory studies: -Protoporphyrin concentrations are higher in red cells, plasma, bile and faeces -Full blood count and liver functions -Evaluation of anemia -Coproporfirina accumulate as a result of liver disease The measurement of their activity ferochelatazelor or is still in research.
Histological examination. Microscopic examination of skin rash shows dermal perivascular and interstitial neutrophilic infiltrates. Note extravasation impaired endothelium with intravascular content and mast cell degranulation. Altered skin shows deposits of hyaline material in the upper dermis and thickened walls of dermal capillaries. Liver biopsy showed brown pigment in hepatocytes and Kupffer cells, portal macrophages and biliary structures. Changes observed in advanced cirrhotic disease. The differential diagnosis is made with the following conditions: drug-induced photosensitivity, lupus erythematosus, polymorphic light eruption, porphyria cutanea tarda, solar urticaria, variegate porphyria, erythropoietic porphyria.
Treatment
Photosensitivity require the use of sunscreen and lifestyle changes. The barrier is not efficient glass, plastic films can be used to mitigate the transmission of visible and ultraviolet light with a long strip. Formulas that block sunlight zinc oxide and titanium dioxide may be helpful. Dihydroxyacetone sun creams that produce artificial tanning may block some sunlight. Induction of endogenous melanin by exposing skin to UVA or UVB phototherapy lamps in conjuntie with psoralen can increase tolerance to sunlight.
Afamelanotide is a melanocyte-stimulating hormone analog that increases production of melanin in the skin. Injected into the skin. Oral Beta-carotene reduces photosensitivity. The use of oral cysteine or pyridoxine may be beneficial. H1 receptor antagonists can block the histamine reaction compnentele acute, but rarely suppress signs.
Liver disease can be treated by: Oral-administration of ion exchange resins or activated charcoal to reduce porphyrin enterohepatic -Transfusion and intravenous infusion of heme analogues to endogenous production of porphyrin Represa Iron-administration -Reducing protoporphyrin in erythrocytes by the administration of vitamin E Plasmapheresis to reduce protoporphyrin-circulating.
Surgical therapy. Gallstones require surgical removal. In the absence of encephalopathy and liver failure patients have a normal life expectancy