ERYTHROPOIETIC PROTOPORPHYRIA A NEW PORPHYRIA SYNDROME WITH SOLAR URTICARIA DUE TO PROTOPORPHYRINqMIA

Magnus, I.A.

doi:10.1016/s0140-6736(61)92427-8

Cited by 413 publications

(138 citation statements)

References 3 publications

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“…After incubation for 10 min, 90-95% of the added protoporphyrin was taken up by the erythrocytes. Protoporphyrin was bound to the erythrocyte membrane (Table II and erythrocytes contain large amounts of protoporphyrin (21). When irradiated, hemoglobin together with protoporphyrin escape from the cells (Fig.…”

Section: Resultsmentioning

confidence: 97%

Light-induced protoporphyrin release from erythrocytes in erythropoietic protoporphyria.

Sandberg¹,

Brun²

1982

J. Clin. Invest.

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A B S T R A C T The photohemolysis of normal erythrocytes incubated with protoporphyrin is reduced in the presence of albumin. When globin is added to normal erythrocytes loaded with protoporphyrin, protoporphyrin is bound to globin. During irradiation protoporphyrin moves from globin to the erythrocyte membrane and photohemolysis is initiated.Erythrocytes in patients with erythropoietic protoporphyria contain large amounts of protoporphyrin bound to hemoglobin. Upon irradiation of these cells in the absence of albumin, 40% of protoporphyrin and 80% of hemoglobin is released after 240 kJ/m2. The released protoporphyrin is hemoglobin bound. In contrast, when albumin is present only 8% of hemoglobin is released whereas protoporphyrin is released to 76%. The released protoporphyrin is albumin bound.A hypothesis for the release of erythrocyte protoporphyrin in erythropoietic protoporphyria without simultaneous hemolysis is proposed: Upon irradiation protoporphyrin photodamages its binding sites on hemoglobin, moves through the plasma membrane, and is bound to albumin in plasma.

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Section: Resultsmentioning

confidence: 97%

Light-induced protoporphyrin release from erythrocytes in erythropoietic protoporphyria.

Sandberg¹,

Brun²

1982

J. Clin. Invest.

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“…EPP is characterized by the accumulation of protoporphyrin and by acute solar photosensitivity, established by Mangus et al (1961) and Langhof et al (1961). The disease is generally known to be inherited in an autosomal dominant characteristic with partial penetrance.…”

Section: Molecular Basis Of Erythropoietic Protoporphyriamentioning

confidence: 99%

Molecular and Genetic Characterization of Ferrochelatase.

Taketani

1993

Tohoku J. Exp. Med.

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“…[1][2][3][4] These reactions may be elicited by as little as a few minutes of sun-exposure. 5 Initially, patients suffer from burning pain.…”

mentioning

confidence: 99%

Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria

Biolcati

Marchesini²,

Sorge

et al. 2015

Br J Dermatol

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SummaryBackground In erythropoietic protoporphyria (EPP), an inherited disease of porphyrin-biosynthesis, the accumulation of protoporphyrin in the skin causes severely painful phototoxic reactions. Symptom prevention was impossible until recently when afamelanotide became available. Afamelanotide-induced skin pigmentation has statistically significantly improved light-tolerance, although the clinical significance of the statistical effect was unknown. Objectives To assess clinical effectiveness by recording compliance and safety during prolonged use. Methods We report longitudinal observations of 115 ambulatory patients with EPP, who were treated with a total of 1023 afamelanotide implants over a period of up to 8 years at two porphyria centres; one in Rome, Italy, and the other in Zurich, Switzerland. Results Since the treatment first became available in 2006, the number of patients treated with 16 mg afamelanotide implants rose continuously until June 2014, when 66% of all patients with EPP known to the porphyria centres were treated. Only three patients considered afamelanotide did not meet their expectations for symptom improvement; 23% discontinued the treatment for other, mostly compelling, reasons such as pregnancy or financial restrictions. The quality of life (QoL) scores, measured by an EPP-specific questionnaire, were 31 AE 24% of maximum prior to afamelanotide treatment, rose to 74% after starting afamelanotide and remained at this level during the entire observation period. Only minor adverse events attributable to afamelanotide, predominantly nausea, were recorded. Conclusion Based on the improved QoL scores, high compliance and low discontinuation rates, we conclude that afamelanotide exhibits good clinical effectiveness and good safety in EPP under long-term routine conditions.

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ERYTHROPOIETIC PROTOPORPHYRIA A NEW PORPHYRIA SYNDROME WITH SOLAR URTICARIA DUE TO PROTOPORPHYRINqMIA

Cited by 413 publications

References 3 publications

Light-induced protoporphyrin release from erythrocytes in erythropoietic protoporphyria.

Light-induced protoporphyrin release from erythrocytes in erythropoietic protoporphyria.

Molecular and Genetic Characterization of Ferrochelatase.

Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria

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