Porphyria Quiz

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Caroline M. Doan

Caroline M. Doan, DO

Internal medicine

Yoshinori Abe

Yoshinori Abe, MD

Internal medicine

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Learn more about Porphyria

Content updated on Jun 1, 2022

What is porphyria?

Porphyrias are a group of inherited or acquired disorders that result from a buildup of natural chemicals that produce porphyrin in the body. Porphyrins are required for hemoglobin function. Common triggers include drugs (birth control pills, sedatives etc), fasting, smoking, drinking alcohol, infections, emotional and physical stress, hormonal imbalance, and exposure to the sun.

Symptoms of porphyria

  • Losing consciousness

  • Unable to move my face

  • Black/blue/brown spots or moles, on the skin and lining of the mouth

  • Ulcers over the genitals

  • Redness in sun-exposed areas of skin

  • Excessive hair growth on the body

  • Decrease in urine volume

  • Blisters

Questions your doctor may ask to check for porphyria

Your doctor may ask these questions to diagnose porphyria

  • Have you currently regained consciousness after temporarily losing consciousness?

  • Do you have difficulty controlling the muscles of your face?

  • Are there black, blue, or brown spots on the skin or elsewhere? (Including moles)

  • Do you have sores or erosion in your private area?

  • Do you have redness on the sun-exposed areas of your skin?

Treatment for porphyria

Treatment depends on the type and severity of porphyria. Treatment involves avoiding triggers, medications to limit the body's production of porphyrins, medication to reduce acute symptoms and drawing out blood to reduce iron in the body.

View the symptoms of Porphyria

References

  • Ramanujam VS, Anderson KE. Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. Curr Protoc Hum Genet. 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. PMID: 26132003; PMCID: PMC4640448.

    https://onlinelibrary.wiley.com/doi/10.1002/0471142905.hg1720s86

  • Suh Y, Gandhi J, Seyam O, Jiang W, Joshi G, Smith NL, Ali Khan S. Neurological and neuropsychiatric manifestations of porphyria. Int J Neurosci. 2019 Dec;129(12):1226-1233. doi: 10.1080/00207454.2019.1655014. Epub 2019 Sep 1. PMID: 31402774.

    https://www.tandfonline.com/doi/full/10.1080/00207454.2019.1655014

  • Szlendak U, Bykowska K, Lipniacka A. Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria. Adv Clin Exp Med. 2016 Mar-Apr;25(2):361-8. doi: 10.17219/acem/58955. PMID: 27627571.

    https://advances.umw.edu.pl/en/article/2016/25/2/361/

  • O'Malley R, Rao G, Stein P, Bandmann O. Porphyria: often discussed but too often missed. Pract Neurol. 2018 Oct;18(5):352-358. doi: 10.1136/practneurol-2017-001878. Epub 2018 Mar 14. PMID: 29540448.

    https://pn.bmj.com/content/18/5/352

Medically Reviewed By:

Caroline M. Doan

Caroline M. Doan, DO

Internal medicine

Yoshinori Abe

Yoshinori Abe, MD

Internal medicine

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