Diagnosis of AHP can be difficult because it is a rare disease, and the symptoms are so wide-ranging that they match those of other, more well-known illnesses. Symptoms can appear to be gastrointestinal (digestive system) in nature; they can seem to be associated with heart problems; they may seem to be muscle-related; they may be mistaken for gynecological problems; or they can present as neurological, psychological or emotional in nature.
Due to the extreme range of symptoms, people with AHP are often incorrectly diagnosed. Many people go see many doctors over the course of several years before they find out exactly what is wrong. These are just some of the diseases and conditions that someone with AHP could be incorrectly diagnosed with before finally receiving a correct identification of their disease:
People who suffer with extreme belly pain and have at least one of the other symptoms stated earlier should consider making an appointment with a doctor to begin the evaluation process. In addition to routine tests that may be done to diagnose illness, AHP testing can involve a urine test that measures (1) the levels of porphyrin precursors, PBG and ALA; and (2) porphyrins, which can be significantly higher than normal in AHP. The accuracy of these tests is better if they are done when someone is having an attack or shortly after they have had an attack.
Additionally, a genetic test can be done to help confirm an AHP diagnosis and help identify at-risk family members. The genetic test can be done using a saliva or blood sample. The benefits of having a genetic test include:
- Helping to confirm AHP as a diagnosis
- Pinpointing the specific type of AHP
- Determining the specific genetic mutation so that other family members can be tested