title: Clinical indications for the investigation of porphyria: case examples and evolving laboratory approaches to its diagnosis in New Zealand.
abstract: Patients with porphyria present in a diverse and unusual variety of ways and most clinicians will see only a few cases, if any, during their professional lives. Porphyria may present (1) with acute symptoms, which may be abdominal pain, neurological or psychiatric; (2) with skin rash or photosensitivity; or (3) with a putative family history. Screening for latent porphyria has been greatly facilitated by fluorescence emission scanning of plasma and by mutational analysis. Our reference laboratory has recently diagnosed several cases of the less common types of porphyria, which we postulate is due to the availability of these methods and to the changing population of New Zealand. Accurate screening and diagnosis of porphyria is important, as an acute porphyric attack is life-threatening and preventable. Retrospective diagnosis may be difficult.
authors.affiliation: Clinical Biochemistry Unit, Canterbury Health Laboratories, Christchurch, New Zealand. chris.sies@cdhb.govt.nz
authors.forename: Christiaan
authors.initials: C
authors.lastname: Sies
authors.forename: Christopher
authors.initials: C
authors.lastname: Florkowski
authors.forename: Peter
authors.initials: P
authors.lastname: George
authors.forename: Howard
authors.initials: H
authors.lastname: Potter
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D015415:Biomarkers / Q000378:metabolism; D002675:Child, Preschool; D019411:Clinical Laboratory Techniques / Q000379:methods / Q000639:trends; D046349:Coproporphyria, Hereditary / Q000175:diagnosis / Q000378:metabolism; D005260:Female; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D008297:Male; D008875:Middle Aged; D017119:Porphyria Cutanea Tarda / Q000175:diagnosis / Q000378:metabolism; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis / Q000378:metabolism; D017092:Porphyria, Erythropoietic / Q000175:diagnosis / Q000378:metabolism; D046350:Porphyria, Variegate / Q000175:diagnosis / Q000378:metabolism; D011164:Porphyrias / Q000175:diagnosis* / Q000378:metabolism; D011166:Porphyrins / Q000097:blood; D046351:Protoporphyria, Erythropoietic / Q000175:diagnosis / Q000378:metabolism
chemical_list: D015415:Biomarkers; D011166:Porphyrins; D006418:Heme