What is AIP?

AIP is a rare inherited disease caused by a partial deficiency of the enzyme porphobilinogen (PBG) deaminase in the heme biosynthetic pathway.1

  • PBG deficiency disrupts normal heme production, which leads to overproduction of porphyrin precursors that cause diverse pathologic changes.2
  • Accumulation of heme intermediates in the liver, plus precipitating factors, can lead to AIP attacks.1
  • Abdominal pain, the most common symptom, is neuropathic in origin and is usually severe, unremitting, and diffuse.1

The prevalence of acute porphyrias in most European countries is 1‑2 per 100,000 inhabitants; most of these have AIP.3

  • Using the European studies as a reference (there is no prevalence information on AIP in Canada), there could be between 360-720 Canadians with AIP.4
  • Since AIP has low penetrance, approximately 1 in 5 AIP patients present with symptoms.5,6

Learn more about Heme Synthesis

References:

  1. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the Diagnosis and Treatment of the Acute Porphyrias. Ann Intern Med 2005;142:439‑450.
  2. Gonzalez‑Arriaza HL, Bostwick JM. Acute Porphyrias: A Case Report and Review. Am J Psych 2003;160(3):450‑458.
  3. European Porphyria Network. The Porphyrias. Accessed September 21, 2018. Available at: https://porphyria.eu/content/porphyrias
  4. Canadian Association for Porphyria. Member correspondence.
  5. Elder G, Harper P, Badminton M. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2013;36:849‑857.
  6. British Porphyria Association. Testing and inheritance (including genetic testing): Information leaflet. Accessed September 22. Available at: http://porphyria.org.uk/wp-content/uploads/2017/09/Testing-leaflet-2017.pdf