PorphyriaHow to Say It: por-fir-E-ah
by
Cynthia M. Johnson, MA DefinitionPorphyria 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.
CausesMost types are caused by faulty genes. They may be passed on by one or both parents. Risk FactorsThis 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. SymptomsThe 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:
DiagnosisThe 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:
TreatmentThere 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. Acute PorphyriasThese 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. Cutaneous PorphyriasThese types may be treated with:
Children with severe symptoms of a certain type of cutaneous porphyria may need a bone marrow transplant. PreventionThere are no known guidelines to prevent these rare disorders. RESOURCES:American Liver Foundation http://www.liverfoundation.org National Institute of Diabetes and Digestive and Kidney Diseases http://www2.niddk.nih.gov CANADIAN RESOURCES:Canadian Liver Foundation http://www.liver.ca Canadian Organization for Rare Disorders http://www.raredisorders.ca References: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 | |
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