Testing
Laboratory Testing
- During a suspected porphyria attack, a urinary PBG/ALA test can enable the diagnosis of acute hepatic porphyria (AHP).1
- The standard method for diagnosis for AHP is measurement of the urinary porphobilinogen, or PBG, using a spot urine sample (i.e., a single-void urine sample) (see figure).2,3
- In fact, a 24-hour urine collection is not necessary nor recommended.4
- Urinary biomarkers such as PBG are reported as a ratio to urinary creatinine (UCr) concentration to control for variations in urine flow rate.5
- Urinary ALA is the first-line test for ADP.1
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Genetic Testing
- Genetic testing is also available as a confirmatory test for diagnosis after a complete biochemical evaluation has been done.1
- Genetic testing can also determine acute hepatic porphyria (AHP) subtype (AIP, VP, HCP, or ADP) as well as identify at-risk family members once a mutation is identified in the family.1
- Once AHP is confirmed or highly suspected, consulting with a genetic specialist is recommended.1
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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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