title: The difficult clinical diagnosis of erythropoietic protoporphyria.
abstract: 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.
authors.affiliation: Department of Gastroenterology, Karolinska Institute and Karolinska University Hospital, Stockholm, Sweden.
authors.forename: S
authors.initials: S
authors.lastname: Wahlin
authors.forename: Y
authors.initials: Y
authors.lastname: Floderus
authors.forename: A-M
authors.initials: AM
authors.lastname: Ros
authors.forename: U
authors.initials: U
authors.lastname: Broomé
authors.forename: P
authors.initials: P
authors.lastname: Harper
mesh_terms: D006801:Humans; D010787:Photosensitivity Disorders / Q000150:complications; D046351:Protoporphyria, Erythropoietic / Q000175:diagnosis* / Q000209:etiology; D011788:Quality of Life; D013472:Sunlight; D013548:Sweden