Clinical Manifestations

  • Patients with acute hepatic porphyria (AHP) have variable symptoms, and presentations are often atypical (see figure).1
AHP Clinical manifestations
  • Patients may present with various neurovisceral manifestations, such as autonomic neuropathy: abdominal pain, tachycardia, and hypertension; peripheral neuropathy: muscle weakness and paralysis; CNS manifestations: seizures and mental status changes; metabolic: hyponatremia; and red-brownish urine on exposure to light and air.2-9
  • Abdominal pain is recurrent, severe and unremitting, typically requiring sizeable doses of narcotics for pain relief.2,3,14
  • The abdomen is typically soft, there are no peritoneal signs, and no evidence of hollow organ or peritonitis or viscous rupture.15

1. Balwani M, Wang B, Anderson KE, et al. Hepatology. 2017;66(4):1314-1322. 2. Bonkovsky HL, Maddukuri VC, Yazici C, et al. Am J Med. 2014;127(12):1233-1241. 3. Duque-Serrano L, Patarroyo-Rodriguez L, Gotlib D, Molano-Eslava JC. Curr Psychiatry Rep. 2018;20(1):5. 4. Pischik E, Kauppinen R. Cell Mol Biol (Noisy-le-grand). 2009;55(1):72-83. 5. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Ann Intern Med. 2005;142(6):439-450. 6. Harper P, Sardh E. Expert Opinion on Orphan Drugs. 2014;2(4):349-368. 7. Ruthirago D, Julayanont P, Rassameehiran S. Southwest Respiratory and Critical Care Chronicles. 2016;4(16):51-55. 8. Pallet N, Mami I, Schmitt C, et al.  Kidney Int. 2015;88(2):386-395. 9. Alnylam. Porphyria: Understanding Porphyria. http://www.alnylam.com/patients/porphyria/. Accessed April 12, 2018. 10. Marion B, Rejeski J, Rudnick S, Bonkovsky H.  Med Research Arch. 2017;5(9):1-22. 11. Anderson KE, Balwani M, Ventura P, et al. Hepatology. 2016;64(1 suppl):285A. 12. Gonzalez-Arriaza HL, Bostwick JM. Am J Psych. 2003;160(3);450-458. 13. Thadani H, Deacon A, Peters T. BMJ. 2000;320(7250):1647-1651. 14. Bonkovsky HL, Caballes FR. NeurologyAdvisor. 2013. https://www.neurologyadvisor.com/gastroenterology-hepatology/acute-porphyrias/article/596652/. Accessed March 8, 2018. 15. Bloomer JR, McGuire BM. Clin Gastroenterol Hepatol. 2007;5(11):1255-1258; quiz 1244.

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