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. Some porphyria disorders include:
Most types of porphyrias are inherited through genes. They may be passed on by one or both parents.
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.
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Some porphyria disorders include:
- Acute intermittent porphyria
- Porphyria cutanea tarda
- Erythropoietic protoporphyria
- Congenital erythropoietic protoporphyria—present from birth
You will be asked about your symptoms. A medical and family history will be taken. A physical exam will also be done.
Your bodily fluids and waste may be tested. This can be done with:
- Blood tests
- Urine tests
- Stool tests
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.
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:
- Alcohol consumption
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.
For all types of porphyria, treatment includes the following:
- Avoiding known triggers and drugs
- Eating a high-carbohydrate diet
- IV glucose
- Medication, if glucose therapy is not effective
Porphyria that affects the skin requires special attention to protect the skin from injury and/or infection.
Additional treatment depends on the type of porphyria:
The primary treatment step is to avoid or limit exposure to sunlight. Other
treatment steps may include:
- Medications to increase light tolerance such as beta-carotene
- Removal of the spleen to reduce need for blood transfusion for anemia
- Bone marrow transplantation