Acute intermittent porphyria
This underlying deficiency must be combined with a trigger in order to produce symptoms. Triggers include certain drugs (porphyrinogenic), alcohol consumption, cigarette or marijuana smoking, stress, infections, fasting, or diet changes.
Patients usually experience symptoms in attacks that last from several hours to a few days. Severe acute attacks may require hospitalization. Between attacks, patients are asymptomatic.
Presentation is highly variable. Findings include abdominal pain, nausea / vomiting, constipation, tachycardia, weak extremities, urinary retention, dark urine (purple, red, brown, port-wine-colored), mental status changes, convulsions, hyponatremia, and peripheral neuropathy that may progress to respiratory paralysis. One theory behind neurologic dysfunction is that one or more of the heme pathway intermediates are neurotoxic. During attacks, urinary aminolevulinic acid (ALA) and porphobilinogen levels increase.
E80.21 – Acute intermittent (hepatic) porphyria
234422006 – Acute intermittent porphyria
Differential Diagnosis & Pitfalls
- Inflammatory bowel disease (see Crohn disease, ulcerative colitis)
- Biliary stones
- Celiac disease
Drug Reaction Data