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SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyDrug Reaction DataReferences
Emergency: requires immediate attention
Acute intermittent porphyria
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Emergency: requires immediate attention

Acute intermittent porphyria

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Contributors: Joon B. Kim MD, Carla Casulo MD, Abhijeet Waghray MD
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Synopsis

Acute intermittent porphyria : Abdominal pain, Agitation, Dark urine, Nausea/vomiting, Anxiety, Constipation, Extremities weakness, Peripheral neuropathy, Depressed mood, Drowsiness, HR increased, BP increased, Na decreased, Recurring episodes
Acute intermittent porphyria (AIP) is the most common of the acute porphyrias and has a female predominance. It is an autosomal dominant genetic disease marked by deficient levels of the enzyme porphobilinogen deaminase. AIP is caused by a mutation on gene HMBS, which has the ability to result in a buildup of porphyrin.

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

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Abdominal pain: Neurologic changes: Electrolyte disturbances:

Best Tests

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Management Pearls

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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.

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References

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Last Reviewed:04/11/2019
Last Updated:01/11/2022
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Emergency: requires immediate attention
Acute intermittent porphyria
Print  
A medical illustration showing key findings of Acute intermittent porphyria : Abdominal pain, Agitation, Dark urine, Nausea/vomiting, Anxiety, Constipation, Extremities weakness, Peripheral neuropathy, Depressed mood, Drowsiness, HR increased, BP increased, Na decreased, Recurring episodes
Copyright © 2023 VisualDx®. All rights reserved.