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)
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
Treatment algorithm
Contributors
Authors
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 topic.
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 topic.
Peer reviewers
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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