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
- Avoid the complications that can result from misdiagnoses and unnecessary surgeries or procedures
How AHP is diagnosed
People who may be experiencing symptoms can discuss AHP testing with their healthcare provider. The technique a doctor can use to determine if a person has AHP is the random (spot) urine test, to determine if there are elevated PBG and ALA levels. A genetic test is not required for diagnosis, though it is recommended to specify the type of AHP.
SPOT URINE TEST
- AHP can be diagnosed with a (spot) urine test of PBG (porphobilinogen), ALA (aminolevulinic acid), and porphyrin levels
- A 24-hour urine collection is not recommended and may result in considerable delay in confirming the diagnosis
- It is recommended to have a urine test during or shortly after an attack, however, testing can be performed anytime if there is a suspicion of AHP
- Porphyrin analyses may help identify the specific type of AHP, but are not used alone to diagnose AHP
GENETIC TEST
- 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
- AHP is a genetic inherited disease, so family members of someone who has AHP may also have inherited the altered gene responsible for the disorder. While most people with an altered gene may never have symptoms, they are however at risk of having an attack, or at risk of complications associated with elevated levels of ALA and PBG. Knowledge of genetic risk of AHP may enable people to make informed decisions regarding lifestyle and medications with the intent to prevent attacks and complications of the disease. Therefore, family members of someone who has AHP may want to talk with their doctor about genetic testing for AHP.
This information is intended for disease awareness purposes only. Nothing on the site constitutes individual medical advice. Individuals are advised to consult their physician or other appropriate HCP.
If you identify symptoms of AHP, it’s important to talk with your doctor. The Doctor Discussion Guide below will help you have a conversation about AHP.
As soon as I realised that I might have been having a porphyria attack, I was petrified. I thought, “This cannot be happening to me. I’ve avoided all of the counter indicated medications. I haven’t drunk. I haven’t done all of these things.” And it still happened.
— Sue, living with AHP
