A 38-year-old woman presented in the emergency department with acute abdominal pain. She underwent laparoscopic cholecystectomy. Postoperatively, she developed worsening abdominal pain, tachycardia, flaccid tetraparesis, urinary retention, constipation and SIADH. She also developed red-colored urine. Porphobilinogen was requested in an isolated urine sample, with the test result showing 256 mg/g of creatinine. This case didactically emphasizes the necessity of considering differential diagnosis in acute abdomen pain associated with neurological disorders.
PrauchnerCAE, Tatiana Porfirias agudas: aspectos laboratoriais. Rev Bras Ciencias Farm. 2002;38(3):249-257. [Acessado 23 Outubro 2022] Disponível em: doi:10.1590/S1516-93322002000300002
2.
MeissnerPNDaileyTAHiftRJ, et al.A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet. 1996;13(1):95-97. doi:10.1038/ng0596-95
3.
RamanujamVSAndersonKE. Porphyria diagnostics-Part 1: a brief overview of the porphyrias. Curr Protoc Hum Genet. 2015;86:17. doi:10.1002/0471142905.hg1720s86
4.
ChenBWhatleySBadmintonM, et al.International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. Genet Med. 2019;21(11):2605-2613. doi:10.1038/s41436-019-0537-7
5.
SingalAKAndersonKE. Variegate porphyria. 2013 In: AdamMPEvermanDBMirzaaGM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK121283/
6.
SolaresITejedorMJerichoD, et al.Management of hyponatremia associated with acute porphyria-proposal for the use of tolvaptan. Ann Transl Med. 2020;8(17):1098. doi:10.21037/atm-20-1529
7.
GRABCZYNSKASAMCGREGORJMHAWKJLM. Late onset variegate porphyria. Clin Exp Dermatol. 1996;21(5):353-356. doi:10.1111/j.1365-2230.1996.tb00122.x
8.
SteinPBadmintonMBarthJReesDStewartM. Best practice guidelines on the management of acute porphyrias. Ann Clin Biochem. 2017;54(2):188-196.
9.
LopesD von AValleMA doTagutiJTagutiRCTCBetônicoGNMedeirosFC. Porfiria aguda intermitente: relato de caso e revisão da literatura. Rev bras ter intensiva [Internet]. 2008;20(4):429-434. doi:10.1590/S0103-507X2008000400017
10.
Wilson-BaigNBadmintonMSchulenburg-BrandD. Acute hepatic porphyria and anaesthesia: a practical approach to the prevention and management of acute neurovisceral attacks. BJA Educ. 2021;21(2):66-74. doi:10.1016/j.bjae.2020.09.005
11.
FindleyHPhilipsAColeDNairA. Porphyrias: implications for anaesthesia, critical care, and pain medicine. Cont Educ Anaesth Crit Care Pain. 2012;12(3):128-133. doi:10.1093/bjaceaccp/mks009
12.
StadlbauerVJudP, et al.Impact of COVID-19 on rare diseases: report of three cases of acute hepatic porphyria affected by the pandemic. Z Gastroenterol. 2021;59(08):e347. doi:10.1055/s-0041-1734279
