Acute Hepatic Porphyria (AHP), a subset of porphyria, refers to a family of rare, genetic diseases characterised by potentially life-threatening attacks and, for some patients, chronic manifestations that negatively impact daily functioning and quality of life (QOL).1 The most common manifestation of attacks is severe, diffuse abdominal pain, although patients can also experience other pain, mood, and gastrointestinal (GI) symptoms.1 Attacks often require hospitalisation and can lead to permanent neurological damage or even be life-threatening.2,3 Severe abdominal pain is the most common symptom of AHP, presenting in 92% of patients during attacks.7 Patients may also have other GI symptoms such as constipation and vomiting.8
Patients with acute hepatic porphyria are often referred to gastroenterologists with abdominal pain of unknown origin, many of whom have been misdiagnosed for many years.2,4,5 Click here to understand why gastroenterologists are critical to the accurate and early diagnosis of acute hepatic porphyria to potentially improve prognosis.
Why are gastroenterologists critical to the accurate and early diagnosis of AHP?
What are the porphyrias, and what are the different types of porphyrias?
Why is the identification and diagnosis of patients with AHP so critically important?
What are the typical signs, symptoms, and clinical presentation of AHP?
What tests should be ordered to diagnose AHP?
What should gastroenterologists know about AHP?
1. Gouya et al. European Association for the Study of the Liver (EASL) Congress 2018. Presentation. 2. Bonkovsky et al. Am J Med. 2014;127(12):1233-1241. 3. Anderson et al. Ann Intern Med. 2005;142(6):439-450. 4. Balwani M, Wang B, Anderson KE, et al. Hepatology. 2017;66(4):1314-1322. 5. Jaramillo-Calle DA. N Engl J Med. 2017;377(21):2100-2101. 6. Bonkovsky HL, Maddukuri VC, Yazici C, et al. Am J Med. 2014;127(12):1233-1241. 7. Anderson KE, Balwani M, Ventura P, et al. Hepatology. 2016;64(1 suppl):285A. 8. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Ann Intern Med. 2005;142(6):439-450.Next: Role of Gastroenterologists