Last reviewed: November 2017
Last updated: January  2017

Summary

Definition

History and exam

Key diagnostic factors

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

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

Risk factors

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

Diagnostic investigations

1st investigations to order

  • urinary porphobilinogen (PBG)
  • quantitative measure of urinary porphobilinogen (PBG)
  • urinary total porphyrins
  • serum porphobilinogen (PBG)
Full details

Investigations to consider

  • delta-aminolevulinic acid (ALA)
  • plasma total porphyrins
  • urinary porphyrins using high-performance liquid chromatography (HPLC)
  • fecal total porphyrins
  • fecal porphyrins using high-performance liquid chromatography (HPLC)
  • erythrocyte porphobilinogen deaminase (PBGD) activity
  • porphobilinogen deaminase (PBGD) gene sequencing
  • serum sodium levels
  • MRI brain
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Associate Professor

Department of Medicine and Surgery

Baylor College of Medicine

Houston

TX

Disclosures

GS is an author of a number of references cited in this monograph.

Professor

Departments of Preventive Medicine and Community Health and Internal Medicine

University of Texas Medical Branch

Galveston

TX

Disclosures

KEA has received grants from the National Institutes of Health, the US Food and Drug Administration, and Alnylam Pharmaceuticals; he is an author of a number of references cited in this monograph.

Peer reviewers VIEW ALL

Medical Director

Spine Center

Interventional Spine Physiatrist

Pain Medicine Specialist

Burlington

MA

Disclosures

AC declares that he has no competing interests.

Professor of Medical Sciences

Gardiner Institute

Western Infirmary

Glasgow

UK

Disclosures

KELM declares that he has no competing interests.

Professor Emeritus of Medicine

Division of Gastroenterology

UC Davis Medical Group GI Unit

Sacramento

CA

Disclosures

NP declares that he has no competing interests.

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