Acute Intermittent Porphyria (AIP) is a rare inherited disorder caused by a partial deficiency of a specific enzyme (porphobilinogen deaminase) in the heme biosynthetic pathway. The wide range of signs and symptoms associated with an attack of AIP may also occur with more common conditions. As a result, patients with AIP may not be readily diagnosed.
Correctly and quickly diagnosing AIP is important for long-term management. Patients with untreated attacks face a risk of permanent neuronal damage and development of severe or chronic neuropathic symptoms. Accurate diagnosis is also needed to educate patients on ways to potentially limit future attacks. Testing is the only way to confirm a diagnosis of Acute Intermittent Porphyria.