title: Porphyria: Pathophysiology, diagnosis, and treatment.
abstract: Porphyrias are inherited metabolic disorders that involve alterations in enzymes utilized in the heme biosynthetic pathway. Most of these conditions are inherited; however, some are believed to be acquired through environmental exposures. Patients with porhyrias often present with a wide range of clinical symptoms, making it difficult to diagnose. Treatments vary depending on clinical presentation. A thorough and detailed history is essential and key to discovering a porphyria diagnosis.
authors.affiliation: Tracy Gasson is a registered nurse and nurse clinician at Mercy Health Partners, Bone Marrow Transplant Program, Cincinnati, Ohio. Kathleen Klein is a staff nurse at CVICU Good Samaritan Hospital, Cincinnati, Ohio.
authors.forename: Tracy
authors.initials: T
authors.lastname: Gasson
authors.forename: Kathleen
authors.initials: K
authors.lastname: Klein
mesh_terms: D000208:Acute Disease; D006801:Humans; D009722:Nurse Practitioners; D009733:Nursing Diagnosis; D011164:Porphyrias / Q000145:classification / Q000451:nursing* / Q000503:physiopathology*