Acute intermittent porphyria

Last reviewed: 1 Nov 2022
Last updated: 05 Oct 2022

Summary

Definition

History and exam

Key diagnostic factors

  • abdominal pain
  • tachycardia
  • hypertension
  • dark or red urine
More key diagnostic factors

Other diagnostic factors

  • nausea
  • vomiting
  • abdominal distension
  • constipation
  • urinary hesitancy and dysuria
  • pain in extremities, back, and chest
  • proximal muscle weakness
  • painful hyperesthesia
  • mental symptoms
  • seizures
  • diarrhea
  • quadriparesis
  • respiratory failure
Other diagnostic factors

Risk factors

  • family history
  • female sex
  • drugs
  • elevated progesterone levels
  • decreased caloric or carbohydrate intake
  • smoking
  • age >13 years
  • alcohol
More risk factors

Diagnostic investigations

1st investigations to order

  • urinary porphobilinogen (PBG) and total porphyrins
  • serum PBG
More 1st investigations to order

Investigations to consider

  • delta-aminolevulinic acid (ALA)
  • plasma total porphyrins (including plasma fluorescence scanning)
  • urinary porphyrins using high-performance liquid chromatography (HPLC)
  • fecal total porphyrins (if elevated, fractionation of individual porphyrins by HPLC)
  • fecal porphyrins using HPLC
  • erythrocyte porphobilinogen deaminase activity
  • porphobilinogen deaminase/hydroxymethylbilane synthase gene sequencing
  • serum sodium levels
  • CT or MRI brain
More investigations to consider

Treatment algorithm

ACUTE

mild acute attack

severe acute attack

ONGOING

recurrent noncyclic attacks

women with frequent recurrent cyclic attacks

nonresponsive to medical therapy

Contributors

Authors

Gagan Sood, MD

Associate Professor

Department of Medicine and Surgery

Baylor College of Medicine

Houston

TX

Disclosures

GS is an author of several references cited in this topic.

Karl E. Anderson, MD

Professor

Department of Internal Medicine, Division of Gastroenterology and Hepatology

University of Texas Medical Branch

Galveston

TX

Disclosures

KEA has received consulting fees, advisory board fees, and grants to the university from the National Institutes of Health, the US Food and Drug Administration, Mitsubishi Tanabe Pharma, Recordati Rare Diseases, and Alnylam Pharmaceuticals. He is an author of several references cited in this topic.

Peer reviewers

Alexios Carayannopoulos, MD

Medical Director

Spine Center

Interventional Spine Physiatrist

Pain Medicine Specialist

Burlington

MA

Disclosures

AC declares that he has no competing interests.

Kenneth E.L. McColl, MD, FRCP

Professor of Medical Sciences

Gardiner Institute

Western Infirmary

Glasgow

UK

Disclosures

KELM declares that he has no competing interests.

Neville Pimstone, MD

Professor Emeritus of Medicine

Division of Gastroenterology

UC Davis Medical Group GI Unit

Sacramento

CA

Disclosures

NP declares that he has no competing interests.

  • Differentials

    • Other conditions that cause abdominal pain
    • Delta-aminolevulinate dehydratase deficiency porphyria
    • Hereditary coproporphyria
    More Differentials
  • Guidelines

    • Emergency room guidelines for acute porphyrias
    • Diagnosis of the porphyrias
    More Guidelines
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