Diagnosing AHP
Don’t wait years for the right answers.
Ask about AHP testing.
An early, accurate diagnosis of acute hepatic porphyria (AHP) can help people maintain their quality of life by managing potential attack triggers and gaining clarity about their symptoms. If AHP is suspected, talk to a healthcare provider about testing—typically starting with a urine test, followed by a genetic test to confirm the diagnosis.
Urine test
- Your doctor may order a urine test for PBG (porphobilinogen), ALA (delta-aminolevulinic acid), and porphyrin levels—the primary way to test for AHP—which can help inform a diagnosis
- It is recommended to have a urine test during or shortly after an attack
- Urine porphyrins should not be used alone to test for AHP, as they can be elevated for other reasons
Genetic test
- While a urine test is the primary testing route, a genetic test using a blood or saliva sample may help confirm a urine test, determine the specific type of AHP, or help diagnose AHP outside of an attack
- A genetic test can be useful for family members of people with AHP who want to know if they carry the genetic mutation
- Not everyone with a mutation for AHP will experience symptoms
Get information about a genetic testing option
that doctors can request through the Alnylam Act® program for patients meeting certain criteria.
Watch Nicole’s difficult path to diagnosis—as seen on Lifetime TV
Nicole discusses her difficult path to diagnosis, and Dr. Angelika Erwin, a porphyria expert, provides information about AHP.
Watch The Balancing Act
If you suspect symptoms of AHP, it’s important you talk to your doctor. Taking the Symptom Questionnaire will help you create a personalized Doctor Discussion Guide, which you can bring with you to your next doctor visit.