Erythropoietic Protoporphyrie And X-Linked Protoporphyrie

Erythropoietic protoporphyria (EPP) is caused by an inherited deficiency in the activity of the enzyme ferrochelatase, and X-linked protoporphyria (XLPP) is due to an inherited increase in the activity of ?-aminolevulinic acid synthase 2; both enzymes are heme biosynthesis (see Table: substrates and enzymes of the heme biosynthesis and the problems associated with their lack of diseases). EPP and XLPP are clinically almost identical. They manifest themselves typically in infancy with burning or itching skin pain that occurs after only a short exposure to sunlight. In the further course gallstones are common, and about 10% of chronic liver disease occurs. Diagnosis is based on symptoms and elevated levels of protoporphyrin in erythrocytes and plasma. The prevention is effected by avoidance of triggers (eg. As sunlight, alcohol, fasting) and perhaps the use of oral ?-carotene. Acute skin symptoms can be alleviated by cold baths or wet wipes, analgesics, and topical and / or oral corticosteroids. Patients with liver failure may need a liver transplant, but this is not curative because the predominant source of production of excess protoporphyrin is the bone marrow.

Since the XLPP the EPP so very similar, it is sometimes considered as a variant of the EPP. For etiology and pathophysiology of porphyria, porphyria overview.

Erythropoietic protoporphyria (EPP) is caused by an inherited deficiency in the activity of the enzyme ferrochelatase, and X-linked protoporphyria (XLPP) is due to an inherited increase in the activity of ?-aminolevulinic acid synthase 2; both enzymes are heme biosynthesis (see Table: substrates and enzymes of the heme biosynthesis and the problems associated with their lack of diseases). EPP and XLPP are clinically almost identical. They manifest themselves typically in infancy with burning or itching skin pain that occurs after only a short exposure to sunlight. In the further course gallstones are common, and about 10% of chronic liver disease occurs. Diagnosis is based on symptoms and elevated levels of protoporphyrin in erythrocytes and plasma. The prevention is effected by avoidance of triggers (eg. As sunlight, alcohol, fasting) and perhaps the use of oral ?-carotene. Acute skin symptoms can be alleviated by cold baths or wet wipes, analgesics, and topical and / or oral corticosteroids. Patients with liver failure may need a liver transplant, but this is not curative because the predominant source of production of excess protoporphyrin is the bone marrow. Since the XLPP the EPP so very similar, it is sometimes considered as a variant of the EPP. For etiology and pathophysiology of porphyria, porphyria overview. Etiology EPP, which accounts for about 90% of all EPP phenotypic conceptions is represented by an inherited deficiency of the enzyme ferrochelatase (FECH caused). The mode of inheritance is autosomal recessive; so clinical manifestations are more common in people with only two defective FECH alleles, or a broken and a low-expressing wild-type allele. XLPP, which accounts for the remaining 10% of cases, is the result of gain-of-function mutations that increase the activity of erythrocyte specific ?-aminolevulinate synthase (ALAS 2) in the bone marrow; inheritance is X-linked. The phenotype of heterozygous women can vary between asymptomatic and the affected men. The prevalence of EPP phenotype is approximately 1 / 75,000. Protoporphyrins accumulate in the bone marrow and red blood cells, enter the plasma and be deposited either in the skin or delivered via the liver into the bile. About 10% of patients develop chronic liver disease; Few of these patients will develop cirrhosis of the liver, which can progress to liver failure. Another common complication calcium and bilirubin gallstones due to strong protoporphyrin excretion. Symptoms and signs The severity of the symptoms, even in patients within the same family, very different. Most patients develop symptoms in early childhood. Short sunlight can cause severe pain, burning, redness and edema of the exposed skin. Normally an infant or young child cries even after only a short exposure to sunlight for hours. Sometimes swelling and redness of the skin can be subtle or absent and the EPP and the XLPP can remain undiagnosed for longer than any other forms of porphyria. Around the lips and on the back of the hand, it can lead to crusting after prolonged sun exposure. However occur blistering and scarring, which are typical in porphyria cutanea tarda, hereditary coproporphyria and congenital erythropoietic porphyria, not. If the protection of the skin is neglected for a long time, a rough, thickened and leathery skin (lichenification) may develop, particularly over the knuckles. Perioral linear furrows (carp mouth) can occur. Patients with XLPP tend to have a higher sensitivity to light and a heavier liver disease than those with EPP. When the EPP and the XLPP undetected, psychosocial problems can arise because children refuse inexplicably, to leave the house. The fear or expectation of pain can be so severe that children are nervous, tense or aggressive, or develop a sense of detachment from the environment or suicidal thoughts. Erythropoietic Protoporphyrie With permission of the publisher. From Bloomer J., Risheg H. In Gastroenterology and Hepatology: Liver. Edited by M. Feldman (Series Editor) and W.C. Maddrey. Philadelphia, Current Medicine, 2004. var model = {thumbnailUrl: ‘/-/media/manual/professional/images/erythropoietic_protoporphyria_high_de.jpg?la=de&thn=0&mw=350’ imageUrl: ‘/ – / media / manual / professional / images / erythropoietic_protoporphyria_high_de.jpg lang = en & thn = 0 ‘, title:’? Erythropoietic Protoporphyrie ‘description:’ u003Ca id = “v37895505 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eBei erythropoietic Protoporphyrie are among the chronic skin lesions thickening and lichenification of the skin on the dorsal hand u003c / p u003e u003c / div u003e. ‘credits’ with permission of the publisher

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