{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,16]],"date-time":"2024-09-16T16:46:06Z","timestamp":1726505166075},"reference-count":15,"publisher":"California Digital Library (CDL)","issue":"4","license":[{"start":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T00:00:00Z","timestamp":1667779200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Introduction: Porphyria refers to a group of disorders associated with defects in heme synthesis. They can be associated with severely debilitating features, including abdominal pain, psychiatric symptoms, neurological defects, and cardiovascular irregularities. Although these diseases are rare, patients with attacks often do present to the emergency department (ED) where consideration of porphyria is generally not included in the differential. \n\nCase Report: Here, we examine a case of a 16-year-old male who presented to our ED for evaluation of recurring abdominal pain and auditory hallucinations in which porphyria was considered by the emergency physician.\n\nDiscussion: Not considering acute porphyria in patients with recurring neurovisceral symptoms in the ED can lead to missed opportunities for diagnosing such pathologies.<\/jats:p>","DOI":"10.5811\/cpcem.2022.9.57507","type":"journal-article","created":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T18:28:32Z","timestamp":1668709712000},"page":"311-314","source":"Crossref","is-referenced-by-count":0,"title":["Consideration of Acute Porphyria in an Emergency Department Patient: A Case Report and Discussion of Common Pitfalls"],"prefix":"10.5811","volume":"6","author":[{"given":"Anthony","family":"Rios","sequence":"first","affiliation":[{"name":"University of Tennessee, Department of Biochemistry, Knoxville, Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Kehrberg","sequence":"additional","affiliation":[{"name":"Family Medicine, Lincolnshire, Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hillary","family":"Davis","sequence":"additional","affiliation":[{"name":"University of Tennessee Medical Center, Department of Emergency Medicine, Knoxville, Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"29705","published-online":{"date-parts":[[2022,11,7]]},"reference":[{"key":"ref0","doi-asserted-by":"crossref","unstructured":"Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017;377(9):862-72.","DOI":"10.1056\/NEJMra1608634"},{"key":"ref1","doi-asserted-by":"crossref","unstructured":"2.\tPuy H, Gouya L, Deybach J-C. Porphyrias. Lancet. 2010;375(9718):924-37.","DOI":"10.1016\/S0140-6736(09)61925-5"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"3.\tO\u2019Malley R, Rao G, Stein P, et al. Porphyria: often discussed but too often missed. Pract Neurol. 2018;18(5):352-8.","DOI":"10.1136\/practneurol-2017-001878"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"4.\tDi Pierro E, De Canio M, Mercadante R, et al. Laboratory diagnosis of porphyria. Diagnostics (Basel).2021;11(8):1343.","DOI":"10.3390\/diagnostics11081343"},{"key":"ref4","unstructured":"5.\tGonzalez-Mosquera LF and Sonthalia S. Acute intermittent porphyria. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK547665\/"},{"key":"ref5","doi-asserted-by":"publisher","unstructured":"6.\tde Rover CM, Rukmini C, Tulpule PG. Urinary porphyrin pattern in liver damage. Food Chem Toxicol. 1984;22(3):241-3.","DOI":"10.1016\/0278-6915(84)90135-2"},{"key":"ref6","doi-asserted-by":"publisher","unstructured":"7.\tSchoenfeld N, Mamet R, Leibovici L, et al. Alcohol-induced changes in urinary aminolevulinic acid and porphyrins: unrelated to liver disease. Alcohol. 1996;13(1):59-63.","DOI":"10.1016\/0741-8329(95)02013-6"},{"key":"ref7","doi-asserted-by":"publisher","unstructured":"8.\tOchiai T, Morishima T, Kondo M. Symptomatic porphyria secondary to hepatocellular carcinoma. Br J Dermatol. Jan 1997;136(1):129-31.","DOI":"10.1111\/j.1365-2133.1997.tb08763.x"},{"key":"ref8","unstructured":"9.\tPorphobilinogen (PBG), Quantitative, Random Urine. Laboratory Corporation of America Holdings and Lexi-Comp Inc. 2021. Available at: https:\/\/www.labcorp.com\/tests\/003053\/porphobilinogen-pbg-quantitative-random-urine. Accessed May 13, 2022."},{"key":"ref9","doi-asserted-by":"publisher","unstructured":"10.\tWoolf J, Marsden JT, Degg T, et al. Best practice guidelines on first-line laboratory testing for porphyria. Ann Clin Biochem. 2017;54(2):188-98.","DOI":"10.1177\/0004563216667965"},{"key":"ref10","doi-asserted-by":"publisher","unstructured":"11.\tSt\u00f6lzel U, Doss MO, Schuppan D. Clinical guide and update on porphyrias. Gastroenterology. 2019;157(2):365-81.e4.","DOI":"10.1053\/j.gastro.2019.04.050"},{"key":"ref11","unstructured":"12.\tDrug Safety Database for AHP. 2022. Available at: https:\/\/www.porphyria.org\/patient-resources\/drug-safety-database-for-ahp\/. Accessed May 25, 2022."},{"key":"ref12","doi-asserted-by":"publisher","unstructured":"13.\tGonzalez-Aseguinolaza G. Givosiran \u2014 Running RNA interference to fight porphyria attacks. N Engl J Med. 2020;382(24):2366-7.","DOI":"10.1056\/nejme2010986"},{"key":"ref13","doi-asserted-by":"crossref","unstructured":"14.\tSyed YY. Givosiran: a review in acute hepatic porphyria. Drugs. 2021;81(7):841-8.","DOI":"10.1007\/s40265-021-01511-3"},{"key":"ref14","doi-asserted-by":"crossref","unstructured":"15.\tSuh Y, Gandhi J, Seyam O, et al. Neurological and neuropsychiatric manifestations of porphyria. Int J Neurosci. Dec 2019;129(12):1226-33.","DOI":"10.1080\/00207454.2019.1655014"}],"container-title":["Clinical Practice and Cases in Emergency Medicine"],"original-title":[],"deposited":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T18:28:45Z","timestamp":1668709725000},"score":1,"resource":{"primary":{"URL":"https:\/\/escholarship.org\/uc\/item\/986993tm"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,7]]},"references-count":15,"issue-title":["Clinical Practice and Cases in Emergency Medicine"],"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,11,15]]}},"URL":"https:\/\/doi.org\/10.5811\/cpcem.2022.9.57507","relation":{},"ISSN":["2474-252X","2474-252X"],"issn-type":[{"type":"electronic","value":"2474-252X"},{"type":"print","value":"2474-252X"}],"subject":[],"published":{"date-parts":[[2022,11,7]]}}}