Emergency: requires immediate attention
Acute intermittent porphyria
Alerts and Notices
Synopsis

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.
Codes
ICD10CM:E80.21 – Acute intermittent (hepatic) porphyria
SNOMEDCT:
234422006 – Acute intermittent porphyria
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
Abdominal pain:- Appendicitis
- Diverticulitis
- Inflammatory bowel disease (see Crohn disease, ulcerative colitis)
- Biliary stones
- Celiac disease
- Syndrome of inappropriate antidiuretic hormone
- Polydipsia (see diabetes insipidus)
- Renal concentrating defect
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Therapy
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Drug Reaction Data
Below is a list of drugs with literature evidence indicating an adverse association with this diagnosis. The list is continually updated through ongoing research and new medication approvals. Click on Citations to sort by number of citations or click on Medication to sort the medications alphabetically.Subscription Required
References
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Last Reviewed:04/11/2019
Last Updated:01/11/2022
Last Updated:01/11/2022