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Porphyria

Rahul Banerjee, MD and Heather J. Hue, MD, MPH Reviewed 06/2018
 


BASICS

DESCRIPTION

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

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

DIAGNOSIS

HISTORY

  • Symptoms of acute porphyria attacks (1,2)

    • Psychiatric: depression, disorientation, psychosis

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

    • Neurolo...

TREATMENT

GENERAL MEASURES

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Acute porphyria attack: inpatient monitoring as above

  • Preoperative considerations (8)[C]

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

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):361–368. [View Abstract on OvidM...

ADDITIONAL READING

  • Howard M, Hall A, Ramsay R. Congenital erythropoietic porphyria (Gunther disease)—long-term follow up of a case and review. Derm Online J.  2017;23(2):1–5.

  • Manceau H, Gouya L, P...

CODES

ICD10

  • E80.20 Unspecified porphyria

  • E80.29 Other porphyria

  • E80.21 Acute intermittent (hepatic) porphyria

  • E80.0 Hereditary erythropoietic porphyria

  • E80.1 Porphyria cutanea tarda

ICD9

277.1 Disorders of p...

CLINICAL PEARLS

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

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

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