Background
- 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 Each type of porphyria is caused by a deficiency/defect in a gene and/or enzyme of the normal heme (a tetrapyrrole) biosynthetic pathway (see figure), which leads to an accumulation of porphyrins and porphyrin precursors of heme in tissues (especially in the bone marrow or liver).1,6-8
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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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This program was sponsored and funded by Alnylam Pharmaceuticals, Inc, based on an interview with Herbert L. Bonkovsky, MD, FACP, FACG, FAGA, FAASLD. Dr Bonkovsky received a fee for participation in this program. AS1-CEMEA-00184 . Date of preparation: February 2021.
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