You are about to leave the AIPorphyria.com website and enter a website operated by an independent third party. The links to third-party websites contained on AIPorphyria.com are provided solely for your convenience. Recordati Rare Diseases does not control the opinions, claims or comments contained on any third-party website linked to AIPorphyria.com, and your activities at those websites will be governed by the policies and practices of those third parties.

  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. Crimlisk HL. The little imitator-porphyria: a neuropsychiatric disorder. J NeurolNeurosurg Psychiatry. 1997;62:319-328.
  3. Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria. BMJ. 2000;320(7250);1647-1651.
  4. Porphyria. Genetics Home Reference. http://www.ghr.nlm.nih.gov/condition=porphyria. Accessed May 12, 2010.
  5. Porphyria, Acute Intermittent. eMedicine.Medscape.com. http://emedicine.medscape.com/article/205220-overview. Accessed May 12, 2010.
  6. Elder GH, Hift, RJ. Treatment of acute porphyria. Hosp Med. 2001;62(7):422-5.
  7. Sassa S. Diagnosis and therapy of acute intermittent porphyria. Blood Rev. 1996;10 (1): 53-9.
  8. Herrick, AL; Moore, MR; McColl, KL; Cook, A; Goldberg, A. Controlled Trial of Haem Arginate in Acute Hepatic Porphyria. Lancet. 1989 Jun 10; 1 (8650):1295-7.
  9. Panhematin [Package Insert]. Lebanon, NJ: Recordati Rare Diseases; 2013.
  10. Watson CJ, PierachCA,Bossenmaier I, Cardinal R. Adv Intern Med. 1978;23:265-286.
  11. Pierach CA, Bossenmaier I, Cardinal R, Weimer M,Watson CJ. KlinWochenschr. 1980;58:829-832.
  12. Lamon JM, Frykholm BC, Hess RA, TschudyDP.Medicine (Baltimore). 1979;58:252-269.
  13. Lamon JM,et al. Clin Res. 1977;25(3):471A.
  14. McColl KEL, Moore MR,Thompson GG, Goldberg A. Q J Med. 1981;50:161-174.
  15. Porphyria, Acute Intermittent. Cigna website. Available at http://www.cigna.com/healthinfo/nord318.html. Accessed July 15, 2010.
  16. Albers, JW, Fink, JK. Porphyric Neuropathy. Muscle Nerve. 2004 Oct;30(4):410-22.
  17. Anderson, KE. Approaches to Treatments and Prevention of Human Porphyrias. In: Kadish, KM, Smith, KM, Guilard, R, eds. The Porphyrin Handbook. Volume 14/ Medical Aspects of Porphyrins. San Diego, CA: Academic Press; 2003; 247-275.
  18. Palmer K. Abdominal Pain Due to Acute Intermittent Porphyria. Dimensions of Critical Care Nursing 2006; 25(3): 103-109.
  19. Data on file: Recordati Rare Diseases Lebanon, NJ

You have selected the Healthcare Professional site entry. If you are a Healthcare Professional, please click “Continue” below.

Quick Facts

  • Between 5% and 10% of patients with AIP attacks may not experience the most common features, abdominal pain and tachycardia, associated with the condition.1

  • Acute Intermittent Porphyria (AIP) is one of a group of inherited disorders, all involving overproduction and buildup of chemicals called porphyrins or porphyrin precursors.1,15 See an animation.

  • Over 50% of Emergency Department and urgent care physicians (n=239) surveyed were not familiar with AIP.19 What should they know?

clinical books on acute intermittent porphyria

About AIP

Acute Intermittent Porphyria (AIP) is one of the porphyrias, a group of inherited disorders of heme biosynthesis, characterized by attacks of severe abdominal pain, peripheral neuropathy and mental disturbances.1,3 The signs and symptoms of AIP mimic many other conditions, often leading to delayed or inaccurate diagnosis.1

Attacks, which are often triggered by drugs, hormones, alcohol or calorie restriction, are more common in women, and usually first occur between the ages of 15 and 40 years.6 Prompt diagnosis and appropriate treatment are essential due to the risk of permanent neuronal damage, and may prevent development of severe or chronic neuropathic symptoms.1

Prevalence

Frequency in the United States is estimated to be 1-5 cases per 100,000 population.5 The majority of people with the gene mutation for AIP remain asymptomatic, and others may have only one or a few acute attacks throughout life.1

Genetics

Inheritance of AIP is autosomal dominant. Up to 200 different mutations have been identified in the porphobilinogen (PBG) deaminase gene, responsible for the deficient enzyme that results in AIP.17

Acute Intermittent Porphyria and heme biosynthesis

In AIP, there is an inherited partial deficiency (approximately 50% of normal) of PBG deaminase which predisposes the affected person to the effects of precipitating factors, all of which can increase the demand for hepatic heme, and thus induce synthesis of aminolevulinic acid (ALA) synthase.1 Due to a downstream deficiency of PBG deaminase, there is a marked accumulation and urinary excretion of PBG and ALA.1 How this leads to the symptomatic disease is still unclear.5

See an animated presentation of the heme biosynthetic pathway.