Stephen J. Schueler, M.D.

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Porphyria Overview

What is porphyria?
A person with porphyria has abnormally high levels of porphyrins in the bloodstream. Porphyrins are molecules that the body uses to make hemoglobin. High levels of porphyrins are toxic to the brain, nerves, skin and gastrointestinal tract.

What are the symptoms of porphyria?
Symptoms of porphyria vary greatly with the type of porphyria. Symptoms of porphyria may include abdominal pain, constipation, vomiting, depression, muscle aches, and limb pain. Skin symptoms of porphyria may include a red rash and blisters.

How does the doctor treat porphyria?
Treatment for porphyria includes avoiding iron supplements, alcohol, and exposure to the sun. Additional treatment for porphyria may include medications and surgical removal of the spleen.

Continue to Porphyria Risk Factors

Last Updated: Aug 20, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Porphyria References
  1. Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005 Mar 15;142(6):439-50. [15767622]
  2. Badminton MN, Elder GH. Management of acute and cutaneous porphyrias. Int J Clin Pract. 2002 May;56(4):272-8. [12074210]
  3. Elder GH, Hift RJ. Treatment of acute porphyria. Hosp Med. 2001 Jul;62(7):422-5. [11480131]
  4. Gonzalez-Arriaza HL, Bostwick JM. Acute porphyrias: a case report and review. Am J Psychiatry. 2003 Mar;160(3):450-9. [12611823]
  5. Kauppinen R. Porphyrias. Lancet. 2005 Jan 15-21;365(9455):241-52. [15652607]
  6. Sassa S. Diagnosis and therapy of acute intermittent porphyria. Blood Rev. 1996 Mar;10(1):53-8. [8861279]
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