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Porphyrias at a glance: diagnosis and treatment

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Abstract

Porphyrias are a group of eight rare inherited metabolic disorders of heme biosynthesis pathway. Porphyrias are still underdiagnosed, although examinations of urine and plasma are first-line tests for detecting excess of porphyrins or heme precursors in suspected patients. Diagnosis, particularly for the acute forms, is essential to avoid precipitating factors and the use of triggering drugs. Mutation screening of family members is recommended to identify presymptomatic carriers and to prevent acute attacks. The therapeutic approach should be appropriate regarding specific forms of porphyria and treatment should be started promptly.

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  1. Dipartimento di Medicina Interna, Fondazione IRCCS “Cà Granda”, Ospedale Maggiore Policlinico, Università degli Studi di Milano, Via F. Sforza 35, 20122, Milan, Italy

    Maria Domenica Cappellini, Valentina Brancaleoni, Giovanna Graziadei, Dario Tavazzi & Elena Di Pierro

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  1. Maria Domenica Cappellini
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  2. Valentina Brancaleoni
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Correspondence to Maria Domenica Cappellini.

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Cappellini, M.D., Brancaleoni, V., Graziadei, G. et al. Porphyrias at a glance: diagnosis and treatment. Intern Emerg Med 5 (Suppl 1), 73–80 (2010). https://doi.org/10.1007/s11739-010-0449-7

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