Porphyria is a group of disorders. The disorders lead to a buildup of porphyrins in the body. Porphyrins help to make a part of the red blood cell. Excess amounts of porphyrins can cause damage to your body. It most often affects the nervous system and skin.
Congenital erythropoietic protoporphyria—present from birth
Most types of porphyrias are inherited through genes. They may be passed on by 1 or both parents.
Caucasians are at greater risk for porphyria. Women are also at increased risk, because porphyria is related to the menstrual cycle. The most common risk of porphyria is having a family member with the disease.
Porphyria attacks may be triggered by:
Porphyria can cause skin or nervous system problems. Urine may also be reddish in color or darken after standing in the light. Other specific symptoms will depend on the type of porphyria.
Acute Intermittent Porphyria (AIP)
Nervous system symptoms occur most often after puberty. Nerves of the intestines can cause gastrointestinal problems. Attacks can last from days to weeks. Symptoms may include:
Genetic testing may identify people at risk for porphyria. If there are people in your family with porphyria, you may be at risk. The counselor will help find the risks for this disorder in you and your offspring.
Last reviewed November 2018 by
EBSCO Medical Review Board
Kari Kassir, MD
Last Updated: 12/20/2014
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