Erythropoietic protoporphyria
Erythropoietic Protoporphyria (pronunciation: eh-rith-ro-poy-et-ik pro-to-por-fir-ee-uh) is a rare metabolic disorder that primarily affects the skin and, in some cases, the liver. The term is derived from the Greek words erythros (red), poiesis (making), proto (first), and porphyra (purple), referring to the process of red blood cell production and the color of porphyrins, a group of organic compounds involved in the condition.
Definition
Erythropoietic Protoporphyria (EPP) is a form of porphyria, a group of diseases involving abnormal metabolism of the heme molecule, a vital component of hemoglobin. EPP is specifically characterized by a deficiency of the enzyme ferrochelatase, leading to an accumulation of protoporphyrin in the body. This buildup primarily affects the skin, causing extreme sensitivity to sunlight and artificial light.
Symptoms
The primary symptom of EPP is photosensitivity, resulting in painful, burning sensations on the skin within minutes of exposure to sunlight. Other symptoms may include redness, swelling, and changes in skin color. In severe cases, EPP can also affect the liver, leading to complications such as gallstones and liver damage.
Treatment
There is currently no cure for EPP. Treatment primarily involves managing symptoms and preventing complications. This may include avoiding sunlight, wearing protective clothing, and taking certain medications to reduce the accumulation of protoporphyrin. In severe cases, a liver transplant may be necessary.
Epidemiology
EPP is a rare condition, affecting approximately 1 in 75,000 to 200,000 people worldwide. It can occur in individuals of any age, but symptoms typically begin in childhood.
See Also
External links
- Medical encyclopedia article on Erythropoietic protoporphyria
- Wikipedia's article - Erythropoietic protoporphyria
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