Acute Porphyria Quiz
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Intense abdominal pain
Vomiting
Brain fog
Stomachache
Constipation
Fatigue
Change in mental status
Losing my train of thought
Unable to focus
Unable to think clearly
Unable to sleep at night
Insomnia
Not seeing your symptoms? No worries!
What is Acute Porphyria?
Acute porphyria is a group of rare genetic disorders that impact the body's ability to produce heme, a vital component of hemoglobin in red blood cells. This disruption can lead to a variety of symptoms, including intense abdominal pain, nervous system issues, and psychiatric symptoms, with episodes often triggered by factors such as certain medications, hormonal changes, or dietary choices.
Typical Symptoms of Acute Porphyria
- Numbness started with stomach pain
- Diagnosed with photosensitivity in the past.
- Repeated abdominal pain with no known cause
- Blood relatives with frequent abdominal pain
- Seizure
- Abdominal pain after taking medication
- Abdominal pain
- Pulse feels fast (25+ beats in 15 sec)
Diagnostic Questions for Acute Porphyria
Your doctor may ask these questions to check for this disease:
- Did your numbness start with stomach pain?
- Have you been diagnosed with photosensitivity?
- Have you had repeated abdominal pain with no known cause?
- Do any of your blood relatives have frequent stomach pain?
- Have you had a seizure?
Treatment of Acute Porphyria
Acute porphyria treatment includes managing acute attacks with intravenous heme preparations to suppress the production of porphyrins. Supportive care for symptoms and avoidance of triggers is also crucial.
Reviewed By:
Maxwell J. Nanes, DO (Emergency Medicine)
Dr Nanes received a doctorate from the Chicago College of Osteopathic Medicine and went on to complete a residency in emergency medicine at the Medical College of Wisconsin. There he trained at Froedtert Hospital and Children's Hospital of Wisconsin in the practice of adult and pediatric emergency medicine. He was a chief resident and received numerous awards for teaching excellence during his time there. | | After residency he took a job at a community hospital where he and his colleagues worked through the toughest days of the COVID-19 pandemic. |
Yuta Sasaoka, MD (Pediatrics)
Dr. Sasaoka graduated from the Sapporo Medical University School of Medicine. After working in the Department of Pediatrics at Hakodate Municipal Hospital, the Emergency Center at Hakodate Municipal Hospital, and the Department of Emergency Medicine at Tokyo Metropolitan Children's General Medical Center, he joined the Sapporo Medical University Advanced Emergency Medical Center in April 2020. Dr. Sasaoka is well versed in pediatric emergency medicine, covering a wide range of pediatrics and emergency medicine. He is also a certified AHA-PALS instructor and focuses on pediatric secondary life support education at the Hokkaido Training Site.
Content updated on Jan 23, 2025
Following the Medical Content Editorial Policy
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Link to full study:
https://www.medrxiv.org/content/10.1101/2024.08.29.24312810v1References
Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Phillips JD, Naik H, Peter I, Baillargeon G, Bossi K, Gandolfo L, Light C, Bishop D, Desnick RJ. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med. 2014 Dec;127(12):1233-41. doi: 10.1016/j.amjmed.2014.06.036. Epub 2014 Jul 10. PMID: 25016127; PMCID: PMC4563803.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4563803/Gounden V, Jialal I. Acute Porphyria. [Updated 2023 Jul 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing
https://www.ncbi.nlm.nih.gov/books/NBK537352/González-Arriaza, H. L., & Bostwick, J. M. (2003). Acute Porphyrias: A Case Report and Review. American Journal of Psychiatry, 160(3), 450–459.
https://doi.org/10.1176/appi.ajp.160.3.450Wang, B., Ventura, P., Takase, Ki. et al. Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study. Orphanet J Rare Dis 17, 327 (2022).
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