Porphyria (por-FEAR-e-uh) refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are essential for the function of hemoglobin — a protein in your red blood cells that links to porphyrin, binds iron, and carries oxygen to your organs and tissues. High levels of porphyrins can cause significant problems.
There are two general categories of porphyria: acute, which mainly affects the nervous system, and cutaneous, which mainly affects the skin. Some types of porphyria have both nervous system symptoms and skin symptoms.
Signs and symptoms of porphyria vary, depending on the specific type and severity. Porphyria is usually inherited — one or both parents pass along an abnormal gene to their child.
Although porphyria can't be cured, certain lifestyle changes to avoid triggering symptoms may help you manage it. Treatment for symptoms depends on the type of porphyria you have.
July 15, 2017
- National Library of Medicine. Porphyria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/porphyria. Accessed Feb. 22, 2017.
- Porphyria. National Institute of Diabetes and Digestive and Kidney Diseases. https://www.niddk.nih.gov/health-information/liver-disease/porphyria. Accessed Feb. 22, 2017.
- Learning about porphyria. National Human Genome Research Institute. https://www.genome.gov/19016728/learning-about-porphyria/. Accessed Feb. 22, 2017.
- Overview of porphyrias. Merck Manual Professional Version. http://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/porphyrias/overview-of-porphyrias. Accessed Feb. 22, 2017.
- Porphyria. Lab Tests Online. https://labtestsonline.org/understanding/conditions/porphyria/. Accessed Feb. 22, 2017.
- Overview of porphyrias. The Porphyrias Consortium. https://www.rarediseasesnetwork.org/cms/porphyrias/Learn-More/Disorder-Definitions. Accessed Feb. 22, 2017.
- Porphyria. The Porphyrias Consortium. https://www.rarediseasesnetwork.org/cms/porphyrias/Healthcare-Professionals/Disorder-Definitions. Accessed Feb. 22, 2017.
- Anderson KE. Porphyrias: An overview. https://www.uptodate.com/home. Accessed Feb. 22, 2017.
- Stein PE, et al. Update review of the acute porphyrias. British Journal of Haematology. 2017;176:527.
- Tracy JA, et al. Porphyria and its neurologic manifestations. Handbook of Clinical Neurology. 2014;120:839.
- Horner ME, et al. Cutaneous porphyrias part I: Epidemiology, pathogenesis, presentation, diagnosis, and histopathology. International Journal of Dermatology. 2013;52:1464.
- Tintle S, et al. Cutaneous porphyrias part II: Treatment strategies. International Journal of Dermatology. 2014;53:3.
- Davis DMR (expert opinion). Mayo Clinic, Rochester, Minn. June 28, 2017.