Porphyrias at a glance: diagnosis and treatment.
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.
Cappellini
Maria Domenica
MD
Dipartimento di Medicina Interna, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Università degli Studi di Milano, Via F. Sforza 35, 20122, Milan, Italy. maria.cappellini@unimi.it
Brancaleoni
Valentina
V
Graziadei
Giovanna
G
Tavazzi
Dario
D
Di Pierro
Elena
E
D000208:Acute Disease; D000622:Aminolevulinic Acid / Q000378:metabolism; D002908:Chronic Disease; D005820:Genetic Testing; D006418:Heme / Q000378:metabolism; D006801:Humans; D011162:Porphobilinogen / Q000378:metabolism; D011164:Porphyrias / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D011166:Porphyrins / Q000378:metabolism*
D011166:Porphyrins; D006418:Heme; D011162:Porphobilinogen; D000622:Aminolevulinic Acid