Porphyria Quiz
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Reviewed By:
Caroline M. Doan, DO (Internal medicine)
Dr. Doan received a Bachelor of Science degree with honors from UCLA. Prior to obtaining her medical degree, she was involved in oncology clinical research at City of Hope, a National Cancer Institute-designated comprehensive cancer center in southern California. She attended medical school at Touro University California, and completed her residency in Internal Medicine at Oregon Health & Science University. She is certified by the American Board of Internal Medicine and holds an active medical license in several states. She currently works as a physician for Signify Health providing home-based health care.
Yoshinori Abe, MD (Internal medicine)
Dr. Abe graduated from The University of Tokyo School of Medicine in 2015. He completed his residency at the Tokyo Metropolitan Health and Longevity Medical Center. He co-founded Ubie, Inc. in May 2017, where he currently serves as CEO & product owner at Ubie. Since December 2019, he has been a member of the Special Committee for Activation of Research in Emergency AI of the Japanese Association for Acute Medicine. | | Dr. Abe has been elected in the 2020 Forbes 30 Under 30 Asia Healthcare & Science category.
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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
Reviewed By:
Caroline M. Doan, DO (Internal medicine)
Dr. Doan received a Bachelor of Science degree with honors from UCLA. Prior to obtaining her medical degree, she was involved in oncology clinical research at City of Hope, a National Cancer Institute-designated comprehensive cancer center in southern California. She attended medical school at Touro University California, and completed her residency in Internal Medicine at Oregon Health & Science University. She is certified by the American Board of Internal Medicine and holds an active medical license in several states. She currently works as a physician for Signify Health providing home-based health care.
Yoshinori Abe, MD (Internal medicine)
Dr. Abe graduated from The University of Tokyo School of Medicine in 2015. He completed his residency at the Tokyo Metropolitan Health and Longevity Medical Center. He co-founded Ubie, Inc. in May 2017, where he currently serves as CEO & product owner at Ubie. Since December 2019, he has been a member of the Special Committee for Activation of Research in Emergency AI of the Japanese Association for Acute Medicine. | | Dr. Abe has been elected in the 2020 Forbes 30 Under 30 Asia Healthcare & Science category.
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Seiji Kanazawa, MD, PHD
Obstetrics and gynecology (OBGYN)
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