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The difficult clinical diagnosis of erythropoietic protoporphyria

S. Wahlin, Y. Floderus, AM. Ros, U. Broomé, P. Harper

. 2006 ; 55 (Suppl 2) : S155-S157.

Language English Country Czech Republic

Document type Journal Article

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.

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$a We give a short survey of the Swedish erythropoietic protoporphyria patients (EPP) with respect to the lapsed time between symptom debut and diagnosis. With two examples we illustrate the consequence of undiagnosed EPP for the patient and also the family. We recall efforts to spread information among health workers in order to investigate patients suffering from extreme sun-exposure intolerance for this uncommon kind of porphyria as well.
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$a Floderus, Y. $u Porphyria Centre Sweden, Department of Laboratory Medicine, Karolinska Institute and Karolinska University Hospital, Stockholm, Sweden
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$a Ros, A. M. $u Department of Dermatology, Karolinska University Hospital, Stockholm, Sweden
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$a Broomé, U. $u Department of Gastroenterology, Karolinska Institute and Karolinska University Hospital, Stockholm, Sweden
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