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Acute Hepatic Porphyria
Declaration of sponsorship Alnylam Pharmaceuticals

Background

Declaration of sponsorship Alnylam Pharmaceuticals
Read time: 10 mins
Last updated:3rd Mar 2021
Published:3rd Mar 2021

Pathophysiology

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  • Porphyrias encompass a group of 8 genetic disorders and may be1-6
    • Inherited in an autosomal dominant (e.g., acute hepatic porphyria [AHP]) or recessive X-linked pattern (e.g., congenital erythropoietic porphyria [CEP]); or6
    • Sporadic (e.g., porphyria cutanea tarda [PCT])6 
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Precipitating Factors

  • Certain precipitating factors can cause symptomatic disease and strongly influence the occurrence and severity of signs and symptoms of porphyria (see table).1,2

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  • The most frequent recognised cause of acute attacks is medications.15
    • An observational study in 90 patients diagnosed with acute intermittent porphyria (AIP) reported that medications and weight-loss diets triggered acute attacks in 37% and 22% of cases, respectively.16
  • Other precipitants are metabolic, emotional, or physical stresses, including those brought on by intercurrent infection or surgery.3,7,9
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