What are the symptoms of Porphyria?

Symptoms of Porphyria are: (1) Losing consciousness. (2) Pain across the entire body. (3) Excessive hair growth on the body. (4) Unable to move my face. (5) Black/blue/brown spots or moles, on the skin and lining of the mouth. (6) Decrease in urine volume. (7) Redness in sun-exposed areas of skin. (8) Ulcers over the genitals. (9) Difficulty pronouncing words. (10) Abnormal behavior

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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Content updated on Mar 31, 2024

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How Ubie Can Help You

With an easy 3-min questionnaire , Ubie's AI-powered system will generate a free report on possible causes.

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History - considers past illnesses, surgeries, family history, and lifestyle choices.

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What is Porphyria?

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

Typical Symptoms of Porphyria

Losing consciousness
Pain across the entire body
Excessive hair growth on the body
Unable to move my face
Black/blue/brown spots or moles, on the skin and lining of the mouth
Decrease in urine volume
Redness in sun-exposed areas of skin
Ulcers over the genitals

Doctor's Diagnostic Questionson Porphyria

Your doctor may ask these questions to check for this disease:

Have you temporarily lost consciousness?
Do you have body-wide pain?
Has your body hair thickened recently?
Do you struggle to control your facial muscles?
Are there black, blue, or brown spots on your skin? (Including moles)

Treatmentof Porphyria

Treatment depends on the type and severity of porphyria and 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.

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Porphyria

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