Skip to main content

Porphyria

Anuja Abhyankar, MD, Samuel Benjamin Reynolds, MD and Garvit Chhabra, M.D. Reviewed 06/2021
 


BASICS

DESCRIPTION

  • Porphyrias: a group of inherited or acquired metabolic disorders involving heme biosynthesis (1,2)

  • Symptoms mediated by overproduction of porphyrins or precursors in heme biosyntheti...

DIAGNOSIS

HISTORY

  • Symptoms of acute porphyria attacks (1,2)

    • Psychiatric: depression, disorientation, psychosis

    • Gastrointestinal: abdominal pain (constant, poorly localized), vomiting, constipation

    • Neurol...

TREATMENT

In case of a severe attack, hemin treatment should be initiated based on an elevated urine PBG level. 

GENERAL MEASURES

  • Neuropsychiatric: avoidance of precipitating factors (e.g., alcohol or o...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Acute porphyria attack: inpatient monitoring as above

  • Preoperative considerations (12)[C]

    • Careful consideration of all anesthetic choices to avoi...

REFERENCES

1
Szlendak  U, Bykowska  K, Lipniacka  A. Clinical, biochemical and molecular characteristics of the main types of porphyria. Adv Clin Exp Med.  2016;25(2):361–3...

ADDITIONAL READING

  • Howard  M, Hall  A, Ramsay  R. Congenital erythropoietic porphyria (Gunther disease)—long-term follow up of a case and review. Dermatol Online J.  20...

SEE ALSO

https://clinicaltrials.gov/ct2/show/NCT03338816 

CODES

ICD10

  • E80.20 Unspecified porphyria

  • E80.0 Hereditary erythropoietic porphyria

  • E80.21 Acute intermittent (hepatic) porphyria

  • E80.29 Other porphyria

  • E80.2 Other and unspecified porphyria

  • E80.1 Porphyria ...

CLINICAL PEARLS

  • Symptoms of acute porphyria classically include severe nonfocal gastrointestinal pain and neuropsychiatric disturbances.

  • Mainstays of treatment for acute porphyria attacks include oral ...

Subscribe to Access Full Content

Sign Up for a 10-Day Free Trial

Sign up for a 10-day FREE Trial now and receive full access to all content.

 
×