How to Say It: por-fir-E-ah
by Cynthia M. Johnson, MA
Porphyria is a group of rare disorders that lead to a buildup of chemicals called porphyrins in the body. Porphyrins help to make a part of the red blood cell. Excess amounts can cause damage to the body.
These disorders are divided into two groups. The acute types affect the nervous system. The cutaneous types affect the skin.
Most types are caused by faulty genes. They may be passed on by one or both parents.
This problem is more common in women 20 to 40 years of age. It is also more common in people who have a family member with the disorder.
The symptoms a person has depend on the type of the disorder a person has. A common symptom is urine that may be dark or reddish brown in color.
The acute types affect the nervous system. Some types may also cause skin blisters when exposed to sunlight. Problems may be mild to severe and last days or weeks. Symptoms are:
The cutaneous types affect the skin. Symptoms often get worse when the skin is exposed to sunlight. Problems may be:
Some things that may trigger symptoms are:
The doctor will ask about your symptoms and health history. A physical exam will be done.
The doctor will look for porphyrins in the body. This can be done with:
There is no cure. Treatment depends on the type of the disorder a person has and the problems it is causing. The goal of treatment is to manage symptoms and prevent future attacks.
These types are often treated in the hospital. Choices are:
People who have repeated, severe attacks and those who are not helped by other methods may need a liver transplant.
These types may be treated with:
Children with severe symptoms of a certain type of cutaneous porphyria may need a bone marrow transplant.
There are no known guidelines to prevent these rare disorders.
American Liver Foundation
National Institute of Diabetes and Digestive and Kidney Diseases
Canadian Liver Foundation
Canadian Organization for Rare Disorders
About porphyria. The American Porphyria Foundation website. Available at: https://porphyriafoundation.org/for-patients/about-porphyria. Accessed March 2, 2021.
Acute porphyria. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/acute-porphyria. Accessed March 2, 2021.
Karim Z, Lyoumi S, et al. Porphyrias: A 2015 update. Clin Res Hepatol Gastroenterol. 2015 Sep;39(4):412-425.
Porphyria. National Institute of Diabetes and Digestive and Kidney Diseases website. Available at: https://www.niddk.nih.gov/health-information/liver-disease/porphyria. Accessed March 2, 2021.
Porphyria cutanea tarda (PCT). EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/porphyria-cutanea-tarda-pct. Accessed March 2, 2021.
Last reviewed December 2020 by EBSCO Medical Review Board Kari Kassir, MD
Last Updated: 3/3/2021