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Acute Hepatic Porphyria (AHP)

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Last updated: 15th Jan 2021

Acute hepatic porphyrias (AHPs) are a group of rare genetic disorders that result in enzyme deficiencies, disrupting the normal heme biosynthetic pathway. This can cause accumulation the neurotoxic porphyrin precursors, δ-ALA and PBG.

Acute Hepatic Porphyria Learning Zone

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.

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AHPs are associated with potentially life-threatening acute attacks characterised by a range of debilitating symptoms including severe, diffuse abdominal pain, nausea, weakness and constipation. Patients may also experience a range of similarly non-specific chronic symptoms and therefore AHPs are frequently mistaken for other diseases including acute abdomen, infections, inflammatory bowel disease, acute cholecystitis, appendicitis, pancreatitis and intestinal occlusion.

Timely diagnosis of AHP is crucial, as delays in delivering appropriate treatment may have serious consequences for the long-term health of patients and many of the medications used to treat other gastrointestinal disorders may worsen the symptoms of AHP. AHP can be diagnosed using a PBG urine test, and testing should be considered in all patients presenting with recurrent abdominal pain of unknown origin.

Currently, treatment of AHP involves avoidance of precipitating factors, and administration of intravenous hemin in cases of acute attacks severe enough to warrant hospitalisation.

To find out more about AHP visit our dedicated Learning Zone, which includes further information on symptoms, diagnosis and treatment of this condition.

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