Diagnostic Testing for the Acute Porphyrias - Clarification of Testing Results
AIP is the most common of the acute porphyrias.
The most common symptoms are acute attacks of severe abdominal pain, back pain, pain in the arms and legs, nausea, vomiting, rapid heartbeat and other symptoms. These attacks generally last for several days, and can be sporadic or happen frequently (~once/month). These acute attacks are very rare in children before puberty. These acute attacks are very rare in children before puberty. Attacks are often provoked by certain drugs, alcohol, hormones, infections, and perhaps stress. HCP and especially VP may cause blistering skin photosensitivity as well as acute attacks; AIP has no skin involvement, it is characterized just by these acute attacks.
- By biochemical testing:
- For AIP- a urine porphobilinogen (PBG) test during an acute attack—the urine PBG level will be very high if the symptoms are caused by an acute porphyria (greater than 5 times the normal value)
- For HCP and VP- a urine porphobilinogen (PBG) test during an acute attack if the patient has acute symptoms, or plasma porphyrins if the patient has skin symptoms
- By genetic testing looking at the genes known to cause the acute porphyrias