ERYTHROPOIETIC PROTOPORPHYRIA Meaning and
Definition
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Erythropoietic Protoporphyria (EPP) is a rare genetic disorder characterized by a deficiency of the enzyme ferrochelatase, which is involved in the production of heme, an essential molecule for the function of hemoglobin. Hemoglobin is primarily responsible for carrying oxygen to different tissues and cells in the body. The deficiency of ferrochelatase leads to the accumulation of protoporphyrin IX, a byproduct of heme synthesis, in the body.
People with EPP typically experience extreme sensitivity to sunlight or any form of light that falls within the visible spectrum. Even brief exposure to light can cause severe burning, redness, swelling, and itching of the skin. This characteristic photosensitivity is a result of protoporphyrin IX accumulating in the skin cells and becoming activated when exposed to light.
The symptoms of EPP usually appear in childhood, with affected individuals experiencing recurrent episodes of pain and discomfort upon exposure to light. Over time, chronic skin changes, such as thickening and scarring, may occur due to repeated skin damage. In some cases, long-term liver complications, such as gallstones or liver damage, can also arise due to the accumulation of protoporphyrin IX in the liver.
Management of EPP primarily focuses on preventing sunlight exposure through the use of protective clothing, sunscreen, and the avoidance of outdoor activities during peak sunlight hours. In severe cases, medical treatments such as beta-carotene supplementation or phototherapy may be considered to increase tolerance to sunlight.
In conclusion, Erythropoietic Protoporphyria is a rare inherited disorder that causes severe sensitivity to light due to the accumulation of protoporphyrin IX. It primarily affects the skin, leading to painful skin reactions
Common Misspellings for ERYTHROPOIETIC PROTOPORPHYRIA
- wrythropoietic protoporphyria
- srythropoietic protoporphyria
- drythropoietic protoporphyria
- rrythropoietic protoporphyria
- 4rythropoietic protoporphyria
- 3rythropoietic protoporphyria
- eeythropoietic protoporphyria
- edythropoietic protoporphyria
- efythropoietic protoporphyria
- etythropoietic protoporphyria
- e5ythropoietic protoporphyria
- e4ythropoietic protoporphyria
- ertthropoietic protoporphyria
- ergthropoietic protoporphyria
- erhthropoietic protoporphyria
- eruthropoietic protoporphyria
- er7thropoietic protoporphyria
- er6thropoietic protoporphyria
- eryrhropoietic protoporphyria
- eryfhropoietic protoporphyria
Etymology of ERYTHROPOIETIC PROTOPORPHYRIA
The word "erythropoietic protoporphyria" can be broken down into its components to understand its etymology:
1. Erythropoietic: From the Greek roots "erythro-" meaning "red" and "poiesis" meaning "formation". It refers to the production of red blood cells.
2. Protoporphyria: From the Greek roots "proto-" meaning "first" and "porphyrin" referring to a group of organic compounds involved in the synthesis of heme, a component of hemoglobin. The suffix "-ia" indicates a medical condition or disorder.
Therefore, "erythropoietic protoporphyria" is a term derived from Greek and Latin roots to describe a medical condition where there is a dysfunction in the formation of red blood cells, particularly related to the synthesis of protoporphyrins.
