acute intermittent porphyria
Acute intermittent porphyria (AIP) is a rare genetic disorder that affects the production of heme, a component of hemoglobin in red blood cells. It is caused by a deficiency of the enzyme porphobilinogen deaminase, leading to the accumulation of porphyrins in the body. Symptoms can include severe abdominal pain, neurological issues, and changes in mental status, often triggered by factors such as stress, certain medications, or hormonal changes.
Diagnosis typically involves urine tests that detect elevated levels of porphobilinogen. Treatment focuses on managing symptoms and preventing attacks, often through lifestyle changes and avoiding known triggers. In severe cases, hemin infusions may be used to help reduce porphyrin levels.