Acute Hepatic Porphyria (AHP):
Guide your patients to a clear diagnosis
AHP often features chronic, debilitating symptoms punctuated by acute, potentially life-threatening exacerbations. They may inflict years of suffering and impaired quality of life. The symptoms of AHP can often resemble those of other more common conditions such as irritable bowel syndrome (IBS), fibromyalgia, and endometriosis, and consequently, patients afflicted with AHP are often misdiagnosed or remain undiagnosed for an average of 15 years.
Guide your patients to a clear AHP diagnosis by learning to detect the signs and symptoms below.
Disease overview: Acute Hepatic Porphyria (AHP)
AHP is a rare, genetic disease that leads to accumulation of neurotoxic intermediates aminolevulinic acid (ALA) and porphobilinogen (PBG), which causes disease manifestations.
Learn to detect the signs and symptoms of AHP,* which include:
of patients with AHP
report abdominal pain
(mimics an acute abdomen but without specific localization)3,6
32% of patients with AHP report hyponatraemia9
*AHP is comprised of four subtypes. Over 80% of cases are acute intermittent porphyria (AIP), followed by hereditary coproporphyria (HCP), variegate porphyria (VP), and the extremely rare ALA dehydratase-deficiency porphyria (ADP).
†Cutaneous symptoms occur only in HCP and VP.
Nonspecific symptoms can lead to misdiagnoses
You can diagnose AHP by sending urine (preferably early morning) protected from light to a specialised laboratory
Provide the laboratory with clinical details about the patient, the laboratory will perform the appropriate test.
‡PBG and ALA are porphyrin precursors that occur naturally in the heme biosynthesis pathway in the liver but reach neurotoxic levels in patients with symptomatic AHP.
§Porphyrin analyses may differentiate the specific AHP.
Where to test for AHP
Urine PBG and Porphyrins are available through the NHS via your local biochemistry department. Specialized Porphyrin Laboratories in London and Cardiff can provide advice and testing if required.
Cardiff Porphyria Service
Department of Medical Biochemistry & Immunology, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW
Porphyrin laboratory: 029 2074 3565
King's College Hospital Porphyria Service
Porphyrin Section, Reference Biochemistry, Department of Clinical Biochemistry, Viapath
King's College Hospital, London, SE5 9RS
Porphyrin laboratory: 020 3299 3856
Sign up to receive updates about porphyria from Alnylam
All fields are required
- 1 Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017;377(9):862-872.
- 2 Bissell DM, Wang B. Acute Hepatic Porphyria. J Clin Transl Hepatol. 2015;3(1):17-26.
- 3 Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005;142(6):439-450.
- 4 Balwani M, Wang B, Anderson KE, et al; for the Porphyrias Consortium of the Rare Diseases Clinical Research Network. Acute hepatic porphyrias: recommendations for evaluation and long-term management. Hepatology. 2017;66(4):1314-1322.
- 5 Simon A, Pompilus F, Querbes W, et al. Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations. Patient. [published online June 19, 2018]. doi: 10.1007/s40271-018-0319-3.
- 6 Gouya L, Bloomer JR, Balwani M, et al. EXPLORE: a prospective, multinational, natural history study of patients with acute hepatic porphyrias (AHP) with recurrent attacks. Presented at: 2017 International Congress on Porphyrins and Porphyrias; June 26, 2017; Bordeaux, France.
- 7 Alfadhel M, Saleh N, Alenazi H, Baffoe-Bonnie H. Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis. Neuropsychiatr Dis Treat. 2014;10:2135-2137.
- 8 Kondo M, Yano Y, Shirataka M, Urata G, Sassa S. Porphyrias in Japan: compilation of all cases reported through 2002. Int J Hematol. 2004;79(5):448-456.
- 9 Ventura P, Cappellini MD, Biolcati G, Guida CC, Rocchi E; Gruppo Italiano Porfiria (GrIP). A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias. Eur J Intern Med. 25(6):497-505.
- 10 Woolf J, Marsden JT, Degg T, Whatley S, Reed P, Brazil N, Stewart MF, Badminton M. Best practice guidelines on first-line laboratory testing for porphyria. Annals of Clinical Biochemistry 2017;54(2):188–198.