ahp: the right diagnosis is the only way out
Acute hepatic porphyria (AHP) is a family of rare genetic diseases with an estimated US prevalence of 2 to 5 per 100,000. 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.1-7
Symptoms can often resemble those of other more common diseases such as irritable bowel syndrome, fibromyalgia, endometriosis, or even certain psychiatric disorders. Diagnosis of AHP can be delayed for up to 15 years and, in some patients, can involve multiple hospitalizations and even unnecessary surgeries.4,7-9
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References: 1. Ramanujam VM, Anderson KE. Curr Protoc Hum Genet. 2016; 86:17.20.1-17.20.26. 2. Desnick R, Bonkovsky HL. Expert Seminar on Porphyria. 2016; Cambridge, MA. 3. Bissell DM, Wang B. J Clin Transl Hepatol. 2015;3(1):17-26. 4. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Ann lntem Med. 2005;142(6):439-450. 5. Gouya L, Bloomer JR, Balwani M, et al. Presented at: 2017 International Congress on Porphyrins and Porphyrias; June 26, 2017; Bordeaux, France. 6. Simon A, Pompilus F, Querbes W, et al. Patient. 2018;11(5):527-537. 7. Ko JJ, Murray S, Merkel M, et al. Poster presented at: American College of Gastroenterology Annual Meeting; October 5-10, 2018; Philadelphia, PA. 8. Bonkovsky HL, Maddukuri VC, Yazici C, et al. Am J Med. 2014;127(12):1233-1241. 9. Kondo M, Yano Y, Shirataka M, Urata G, Sassa S. Int J Hematol. 2004;79(5):448-456.