Acute Intermittent Porphyria

Acute intermittent porphyria (AIP) is autosomal-dominant porphobilinogen-deaminase (PBGD) deficiency causing overproduction of ALA/PBG. Attacks: severe colicky abdominal pain, nausea/vomiting, constipation, tachycardia, hypertension, motor neuropathy (can mimic Guillain-Barre), neuropsychiatric disturbance, and dark port-wine urine. Attacks are precipitated by drugs (barbiturates, many others), alcohol, fasting, menstruation, infection. Treatment: hemin infusion, glucose loading, pain control, remove triggers.

Common Symptoms

Severe abdominal pain; vomiting/constipation; tachycardia; neuropathy; neuropsychiatric symptoms; dark urine; no skin photosensitivity

Causes and Pathogenesis

PBGD deficiency causes ALA/PBG accumulation during heme-demand stress, causing neurovisceral toxicity.

Treatment

Hemin infusion; IV glucose; pain control; remove precipitant drugs; monitor/respiratory support

Preventive Measures

Avoid precipitant drugs/alcohol/fasting; high-carb diet; genetic counseling; identify carriers.

Department to Visit

It is recommended to visit the Internal Medicine department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.