ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyDrug Reaction DataReferences
Acute intermittent porphyria
Print
Other Resources UpToDate PubMed

Acute intermittent porphyria

Print Images (1)
Contributors: Joon B. Kim BS, Carla Casulo MD, Abhijeet Waghray MD
Other Resources UpToDate PubMed

Synopsis

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, 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, port-wine-colored urine, 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 and porphobilinogen levels increase.

For more information, see OMIM.

Codes

ICD10CM:
E80.21 – Acute intermittent (hepatic) porphyria

SNOMEDCT:
234422006 – Acute intermittent porphyria

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Abdominal pain: Neurologic changes: Electrolyte disturbances:

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

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

Subscription Required

Last Reviewed: 04/12/2019
Last Updated: 04/12/2019
Copyright © 2019 VisualDx®. All rights reserved.
Acute intermittent porphyria
Print 1 Images
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 © 2019 VisualDx®. All rights reserved.