The earlier the diagnosis, the better
Early, accurate diagnosis of AHP may make a real difference in a person's quality of life by enabling them to:
- Take steps to manage factors that may trigger symptoms
- Understand what is happening in their bodies and why
- Avoid the complications that result from misdiagnoses and unnecessary surgeries
How AHP is diagnosed
People who may be experiencing symptoms and suspect AHP should ask their doctor to have their urine tested for porphyria. Below, you can see how doctors arrive at an AHP diagnosis. After the urine tests, genetic tests can be used to confirm the specific type of AHP.
Rule out other conditions
SUSPECT AHP SIGNS AND SYMPTOMS
Test urine PBG, ALA, and Porphyrins
(Biochemical test for PBG, ALA, porphyrins)
Urine (preferably early morning, during an acute attack) will be sent protected from light to a specialised laboratory.
- PBG (porphobilinogen)*
- ALA (aminolevulinic acid)*
It is recommended to have a urine test within 48 hours of symptom onset since PBG and ALA levels drop over time, increasing the chance of a false negative result. Urine porphyrins is a nonspecific test and should not be used alone to diagnose AHP.
*PBG and ALA are substances that are produced when the liver makes haem. Increased levels of PBG and ALA can become toxic and have been associated with the symptoms and attacks of AHP.
†Porphyrin analyses may help identify the specific AHP.
Review the test results
- Your doctor may perform genetic testing or porphyrin analyses to confirm the type of AHP.
- If you and your doctor still suspect AHP, consider repeating the urine test during an attack. Specialized Porphyrin Testing Laboratories in London and Cardiff can provide your doctor with advice if required.
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 unsafe medications. I haven’t drunk. I haven’t done all of these things.” And it still happened.— Sue, living with AHP