Porphyria Quiz
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Learn more about Porphyria
Content updated on Sep 20, 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
Diseases related to 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
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Seiji Kanazawa, MD, PHD
Obstetrics and gynecology (OBGYN)
National Center for Child Health and Development, Japan