PorphyriaPronounced: por-fir-E-ah
by
Debra Wood, RN DefinitionPorphyria 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:
CausesMost types of porphyrias are inherited through genes. They may be passed on by 1 or both parents. Risk FactorsWomen are 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:
SymptomsPorphyria 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:
Porphyria Cutanea Tarda (PCT)This is the most common porphyria. Most are not inherited. They are acquired at some point. Symptoms are primarily in the skin and increase with sun exposure. Symptoms may include:
Erythropoietic Protoporphyria (EPP)Skin symptoms may occur before or during sun exposure. Symptoms include:
Other symptoms may include:
Congenital Erythropoietic Protoporphyria (CEP)This form is rare. Symptoms may include:
DiagnosisYou 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:
TreatmentFor all types of porphyria, treatment includes the following:
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: Acute Intermittent PorphyriaYou may need to be hospitalized during an attack. Your doctor will work with you to determine what triggered the attack. Common triggers include:
Treatment for acute intermittent porphyria may include:
Porphyria Cutanea TardaYour doctor may need to identify the triggers. Common triggers include:
Treatment of porphyria cutanea tarda may include:
Erythropoietic ProtoporphyriaThe primary treatment step is to avoid or limit exposure to sunlight. Other treatment steps may include:
Erythropoietic protoporphyria may also be triggered by dieting or fasting. Your doctor will discuss a healthy diet plan. Congenital Erythropoietic ProtoporphyriaThe primary treatment step is to avoid or limit exposure to sunlight. Other treatment steps may include:
PreventionGenetic 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. 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: ...(Click grey area to select URL) Accessed December 27, 2017.
Acute porphyria. EBSCO DynaMed Plus website. Available at:
http://www.dynamed.com/topics/dmp~AN~T114026/Acute-porphyria
. Updated May 3, 2016. Accessed December 27, 2017.
Porphyria. National Digestive Diseases Information website. Available at: ...(Click grey area to select URL) Updated February 2014. Accessed December 27, 2017.
Porphyria cutanea tarda (PCT). EBSCO DynaMed Plus website. Available at:
http://www.dynamed.com/topics/dmp~AN~T114603/Pemphigus-vulgaris
. Updated Mary 15, 2017. Accessed December 27, 2017.
Last reviewed November 2018 by
EBSCO Medical Review Board
Kari Kassir, MD Last Updated: 12/20/2014 |
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