The Experts below are selected from a list of 2598 Experts worldwide ranked by ideXlab platform
Pauline Harper - One of the best experts on this subject based on the ideXlab platform.
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The role for BMT in Erythropoietic Protoporphyria.
Bone marrow transplantation, 2009Co-Authors: Staffan Wahlin, Pauline HarperAbstract:In the past few years, a number of hematopoietic SCTs (HSCTs) have been performed in Erythropoietic Protoporphyria (EPP). A summary and interpretation of the collected experience may serve to formulate possible indications for HSCT in EPP.
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curative bone marrow transplantation in Erythropoietic Protoporphyria after reversal of severe cholestasis
Journal of Hepatology, 2007Co-Authors: Staffan Wahlin, J Aschan, Mikael Bjornstedt, Ulrika Broome, Pauline HarperAbstract:We report the case of a middle-age patient presenting with severe progressive protoporphyric cholestasis. To halt further progression of liver disease, medical treatment was given aimed at different mechanisms possibly causing cholestasis in Erythropoietic Protoporphyria. Within eighty days, liver biochemistry completely normalized and liver histology markedly improved. Bone marrow transplantation was performed to prevent relapse of cholestatic liver disease by correcting the main site of protoporphyrin overproduction. Thirty-three months after cholestatic presentation and ten months after bone marrow transplantation, liver and porphyrin biochemistry remains normal. The patient is in excellent condition and photosensitivity is absent. The theoretical role of each treatment used to successfully reverse cholestasis and the role of bone marrow transplantation in Erythropoietic Protoporphyria are discussed. Medical treatment can resolve hepatic abnormalities in protoporphyric cholestasis. Bone marrow transplantation achieves phenotypic reversal and may offer protection from future protoporphyric liver disease.
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The difficult clinical diagnosis of Erythropoietic Protoporphyria.
Physiological research, 2006Co-Authors: Staffan Wahlin, Y Floderus, A-m Ros, U Broomé, Pauline HarperAbstract:We give a short survey of the Swedish Erythropoietic Protoporphyria patients (EPP) with respect to the lapsed time between symptom debut and diagnosis. With two examples we illustrate the consequence of undiagnosed EPP for the patient and also the family. We recall efforts to spread information among health workers in order to investigate patients suffering from extreme sun-exposure intolerance for this uncommon kind of porphyria as well.
D. Burrows - One of the best experts on this subject based on the ideXlab platform.
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Erythropoietic Protoporphyria, transfusion therapy and liver disease
The British journal of dermatology, 1992Co-Authors: D. J. Todd, M.e. Callender, E.e. Mayne, M. Walsh, D. BurrowsAbstract:A 28-year-old man who had suffered from Erythropoietic Protoporphyria since infancy was referred because of worsening photosensitivity. Conventional therapy with beta-carotene, terfenadine and topical sunscreens was ineffective or not tolerated, and he was treated with transfusions of washed packed cells. Unexpectedly, his photosensitivity deteriorated further, his whole blood protoporphyrin levels doubled and he developed abnormal liver function tests. This is the first report of such an adverse response to blood transfusion therapy for Erythropoietic Protoporphyria and may have been related to subclinical hepatitis or the increased iron load associated with blood transfusion.
Staffan Wahlin - One of the best experts on this subject based on the ideXlab platform.
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The role for BMT in Erythropoietic Protoporphyria.
Bone marrow transplantation, 2009Co-Authors: Staffan Wahlin, Pauline HarperAbstract:In the past few years, a number of hematopoietic SCTs (HSCTs) have been performed in Erythropoietic Protoporphyria (EPP). A summary and interpretation of the collected experience may serve to formulate possible indications for HSCT in EPP.
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curative bone marrow transplantation in Erythropoietic Protoporphyria after reversal of severe cholestasis
Journal of Hepatology, 2007Co-Authors: Staffan Wahlin, J Aschan, Mikael Bjornstedt, Ulrika Broome, Pauline HarperAbstract:We report the case of a middle-age patient presenting with severe progressive protoporphyric cholestasis. To halt further progression of liver disease, medical treatment was given aimed at different mechanisms possibly causing cholestasis in Erythropoietic Protoporphyria. Within eighty days, liver biochemistry completely normalized and liver histology markedly improved. Bone marrow transplantation was performed to prevent relapse of cholestatic liver disease by correcting the main site of protoporphyrin overproduction. Thirty-three months after cholestatic presentation and ten months after bone marrow transplantation, liver and porphyrin biochemistry remains normal. The patient is in excellent condition and photosensitivity is absent. The theoretical role of each treatment used to successfully reverse cholestasis and the role of bone marrow transplantation in Erythropoietic Protoporphyria are discussed. Medical treatment can resolve hepatic abnormalities in protoporphyric cholestasis. Bone marrow transplantation achieves phenotypic reversal and may offer protection from future protoporphyric liver disease.
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The difficult clinical diagnosis of Erythropoietic Protoporphyria.
Physiological research, 2006Co-Authors: Staffan Wahlin, Y Floderus, A-m Ros, U Broomé, Pauline HarperAbstract:We give a short survey of the Swedish Erythropoietic Protoporphyria patients (EPP) with respect to the lapsed time between symptom debut and diagnosis. With two examples we illustrate the consequence of undiagnosed EPP for the patient and also the family. We recall efforts to spread information among health workers in order to investigate patients suffering from extreme sun-exposure intolerance for this uncommon kind of porphyria as well.
Goerz G - One of the best experts on this subject based on the ideXlab platform.
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Erythropoietic Protoporphyria and terminal hepatic failure
Acta dermato-venereologica, 1996Co-Authors: Bruch-gerharz D, Bolsen K, Goerz GAbstract:We report on a 44-year-old patient with Erythropoietic Protoporphyria who could effectively control his photosensitivity for 22 years with oral carotinoids. The clinical course of his disorder was complicated by liver involvement, initially expressed as marginally raised serum transaminase levels for several years. Terminal hepatic failure with fatal outcome developed 22 years after manifestation of his liver function abnormalities. Hepatic involvement represents an inconstant and unpredictable feature of Erythropoietic Protoporphyria, determining the prognosis of an otherwise clinically benign disorder.
David R. Bickers - One of the best experts on this subject based on the ideXlab platform.
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Terminal hepatic failure in Erythropoietic Protoporphyria
Journal of the American Academy of Dermatology, 1993Co-Authors: Mary Gail Mercurio, Gregory Prince, Fredrick L. Weber, Gretta Jacobs, M. Tarif Zaim, David R. BickersAbstract:Erythropoietic Protoporphyria is an inherited disorder characterized biochemically by a deficiency of ferrochelatase, the enzyme that catalyzes the incorporation of ferrous iron into protoporphyrin to form heme. We describe a patient who illustrates the unpredictability of the course of liver disease in Erythropoietic Protoporphyria. She remained stable for several years after her first evidence of liver function abnormalities. Then, in a period of weeks, hepatic failure developed and she died. Findings of serial liver biopsy specimens showed extensive hepatocellular degeneration and inflammation that appeared in a 10-day period. The factors that cause this rapid deterioration in hepatic function remain unknown. Reported cases of fatal hepatic failure in patients with Erythropoietic Protoporphyria are reviewed.