Erythropoietic Protoporphyria Causes Symptoms Diagnosis Treatment Erythropoietic protoporphyria (epp) is one of the cutaneous porphyrias. epp is due to an inherited deficiency of the enzyme ferrochelatase. reduced activity of this enzyme causes a build up of protoporphyrin in the skin resulting in photosensitivity. abnormally high levels of protoporphyrin can rarely cause liver disease. Author: dr harriet cheng, dermatology registrar, waikato hospital, hamilton, new zealand, 2013. erythropoietic protoporphyria (epp) is a metabolic condition caused by deficiency of the ferrochelatase enzyme leading to intracellular accumulation of haeme precursors. presentation is with acute photosensitivity in childhood giving rise to erythema.
What Is Erythropoietic Protoporphyria What is congenital erythropoietic porphyria? congenital erythropoietic porphyria (cep) is an extremely rare metabolic disorder affecting the synthesis of haem, the iron containing pigment that binds oxygen onto red blood cells. it was initially described by hans gunther so is also known as gunther disease. Erythropoietic protoporphyria (epp) is an inherited condition resulting in the accumulation of protoporphyrins in red blood cells that causes acute, painful, non blistering photosensitivity and potential liver disease.[1] it typically presents in early childhood with immediate pain and crying upon exposure to bright sunlight. it is seasonal in nature with symptoms principally occurring in the. The erythropoietic protoporphyrias consist of three ultra rare genetic disorders of the erythroid heme biosynthesis, including erythropoietic protoporphyria (epp1), x linked protoporphyria (xlepp) and clpx protoporphyria (epp2), which all lead to the accumulation of protoporphyrin ix (ppix) in erythrocytes. Erythropoietic protoporphyria (epp) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within 30 minutes after exposure to sun or ultraviolet light and may be accompanied by swelling and redness. symptoms (which may seem out of proportion to the visible skin lesions) may persist for hours or days after.
Erythropoietic Protoporphyria Definition Causes Symptoms And More The erythropoietic protoporphyrias consist of three ultra rare genetic disorders of the erythroid heme biosynthesis, including erythropoietic protoporphyria (epp1), x linked protoporphyria (xlepp) and clpx protoporphyria (epp2), which all lead to the accumulation of protoporphyrin ix (ppix) in erythrocytes. Erythropoietic protoporphyria (epp) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within 30 minutes after exposure to sun or ultraviolet light and may be accompanied by swelling and redness. symptoms (which may seem out of proportion to the visible skin lesions) may persist for hours or days after. Erythropoietic protoporphyria and x linked protoporphyria are rare genetic photodermatoses. limited expertise with these disorders among physicians leads to diagnostic delays. here, we present evidence based consensus guidelines for the diagnosis, monitoring, and management of erythropoietic protoporphyria and x linked protoporphyria. a systematic literature review was conducted, and reviewed. Erythropoietic protoporphyria. erythropoietic protoporphyria (epp) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. epp has been reported worldwide, with prevalence between 1:75,000 and 1:200,000.
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