–Nathan, living with AHP

Diagnosing AHP

The earlier the diagnosis, the better

Early, accurate diagnosis of AHP may make a real difference in a person's ability to maintain their quality of life by:

  • Taking steps to manage factors that may trigger attacks
  • Understanding what is happening in their bodies and why
  • Avoiding the complications that can result from misdiagnoses and unnecessary surgeries

How AHP is diagnosed

People who may be experiencing symptoms and suspect AHP can ask their healthcare provider to test for AHP. Two techniques to determine if a person has AHP are a urine test and a genetic test:

URINE TEST

Urine test icon
  • AHP can be diagnosed with a simple urine test of PBG (porphobilinogen), ALA (aminolevulinic acid), and porphyrin levels
  • It is recommended to have a urine test during or shortly after an attack
  • Porphyrin analyses may help identify the specific type of AHP, but are not used alone to diagnose AHP

GENETIC TEST

Genetic test icon
  • A genetic test using a blood or saliva sample may help to confirm a diagnosis or determine the specific type of AHP
  • It can rule out AHP if there is not a genetic mutation
  • A genetic test can be useful for family members of people with AHP who want to know if they carry the genetic mutation

GET INFORMATION ABOUT A GENETIC TESTING OPTION

that doctors can request through the Alnylam Act® program for patients meeting certain criteria.

If you suspect symptoms of AHP, it’s important to talk with your doctor. The Doctor Discussion Guide below will help you have a conversation about AHP.

Person diagnosed with acute hepatic porphyria

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