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Acute intermittent porphyria

Última revisão: 20 Aug 2025
Última atualização: 05 Sep 2023

Resumo

Definition

History and exam

Key diagnostic factors

  • abdominal pain
  • tachycardia
  • hypertension
  • dark or red urine
Full details

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
Full details

Risk factors

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

Diagnostic tests

1st tests to order

  • urinary porphobilinogen (PBG) and total porphyrins
  • serum PBG
Full details

Tests 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
Full details

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 reports receiving lecture fees, consulting fees, advisory board fees, and grants to the university from Alnylam, Recordati, Mitsubishi, and Disc Medicine. 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

Declarações

AC declares that he has no competing interests.

Kenneth E.L. McColl, MD, FRCP

Professor of Medical Sciences

Gardiner Institute

Western Infirmary

Glasgow

UK

Declarações

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

Declarações

NP declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017 Aug 31;377(9):862-72. Resumo

Phillips JD, Anderson KE. The porphyrias (Chapter 59). In: Kaushansky K, Lichtman MA, Prchal JT, et al, eds. Williams Hematology, 10th edition. McGraw-Hill, 2021: 961-86.

Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005 Mar 15;142(6):439-50. Resumo

American Porphyria Foundation. Emergency room guidelines for acute porphyrias [internet publication].Texto completo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Diagnósticos diferenciais

    • Other conditions that cause abdominal pain
    • Delta-aminolevulinate dehydratase deficiency porphyria
    • Hereditary coproporphyria
    Mais Diagnósticos diferenciais
  • Diretrizes

    • Diagnosis of acute hepatic porphyrias
    • Management of acute hepatic porphyrias
    Mais Diretrizes
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