AHP: THE RIGHT DIAGNOSIS IS THE ONLY WAY OUT

Acute hepatic porphyria (AHP) is a family of rare genetic diseases with an estimated EU prevalence of 5,4 per million. However, the prevalence of some types of AHP may be higher than generally assumed. It can be characterized by potentially life-threatening attacks and, for some patients, chronic debilitating symptoms that negatively impact daily functioning and quality of life. Some patients may even be at risk for progressive irreversible neuropathy.^1-8

Symptoms can often resemble those of other more common diseases such as irritable bowel syndrome, fibromyalgia, endometriosis, or even certain psychiatric disorders. Consequently, patients afflicted with AHP are often misdiagnosed or remain undiagnosed for up to 15 years.^5,8-10

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References: 1. Elder G, Harper P, Badminton M, et al. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis. 2013;36:849–857. 2. Ramanujam VM, Anderson KE. Curr Protoc Hum Genet. 2016; 86:17.20.1-17.20.26. 3. Desnick R, Bonkovsky HL. Expert Seminar on Porphyria. 2016; Cambridge, MA. 4. Bissell DM, Wang B. J Clin Transl Hepatol. 2015;3(1):17-26. 5. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Ann lntem Med. 2005;142(6):439-450. 6. Gouya L, et al. EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. Hepatology. 2020; May;71(5):1546-1558. 7. Simon A, Pompilus F, Querbes W, et al. Patient. 2018;11(5):527-537. 8. Ko JJ, Murray S, Merkel M, et al. Poster presented at: American College of Gastroenterology Annual Meeting; October 5-10, 2018; Philadelphia, PA. 9. Bonkovsky HL, Maddukuri VC, Yazici C, et al. Am J Med. 2014;127(12):1233-1241. 10. Kondo M, Yano Y, Shirataka M, Urata G, Sassa S. Int J Hematol. 2004;79(5):448-456.