Diagnostic Challenges

  • Missed or delayed diagnosis often occurs for a number of reasons, including1,2:
    • General or nonspecific nature of symptoms (e.g., abdominal pain, constipation, diarrhoea, and neuropathies), which can be caused by many other gastrointestinal (GI) disorders1,3
    • Variable symptoms and atypical presentations, with no pathognomonic signs and symptoms4-6
    • Multisystem involvement1
    • Rare prevalence7,8
    • Lack of clinical experience/training or clinical investigation2,3,8,9
    • Inappropriate tests ordered, or inappropriate timing of tests and/or lack of availability of prompt test results3,8,9
    • Many weeks and even years may span between acute attacks4,10
    • Missing or incomplete family history (as the disease may be latent for several generations)4,11

1. Balwani M, Wang B, Anderson KE, et al. Hepatology. 2017;66(4):1314-1322. 2. Jaramillo-Calle DA. N Engl J Med. 2017;377(21):2100-2101. 3. Bissell DM, Wang B. J Clin Transl Hepatol. 2015;3(1):17-26. 4. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Ann Intern Med. 2005;142(6):439-450. 5. Gonzalez-Arriaza HL, Bostwick JM. Am J Psych. 2003;160(3);450-458. 6. Thadani H, Deacon A, Peters T. BMJ. 2000;320(7250):1647-1651. 7. Ramanujam VM, Anderson KE. Curr Protoc Hum Genet. 2015;86:17.20.1-26. 8. Bissell M, Anderson KE, Bonkovsky HL. N Engl J Med. 2017;377(9):862-872. 9. Cuoghi C, Marcacci M, Ventura P. J Emerg Med Trauma Surg Care. 2015;1:1. 10. American Porphyria Foundation. Acute Intermittent Porphyria (AIP). http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP. Accessed April 4, 2017. 11. Pimstone NR, Anderson KE, Freilich BL. http://www.porphyriafoundation.com/sites/default/files/ERGuidelinesAcutePorphyria%201.pdf. Accessed April 12, 2018.

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