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Recurrent Abdominal Pain of Unknown Etiology: Could It Be Acute Hepatic Porphyria? 

Declaration of sponsorship Alnylam Pharmaceuticals
Read time: 45 mins
Last updated:3rd Mar 2021
Published:3rd Mar 2021
My advice to my gastroenterologist colleagues is to consider the possibility of acute hepatic porphyria (AHP) when they see patients with unexplained and recurrent severe abdominal pain. Diagnosis can easily and rapidly be established using a single-spot random urine test for porphobilinogen (PBG) and creatinine.
Herbert L. Bonkovsky, MD.

Herbert L. Bonkovsky MD, FACP, FACG, FAGA, FAASLD, Professor of Internal Medicine and Molecular Medicine & Translational Science Director, Laboratory for Liver and Metabolic Disorders Wake Forest University School of Medicine Winston-Salem, North Carolina, USA.

Recurrent Abdominal Pain of Unknown Etiology: Could It Be Acute Hepatic Porphyria? 

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 

1. Gouya L, Ventura P, Balwani M, et al. Hepatology 2020; 71 (5): 1546-1558. 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.

 

 

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