Erythropoietic Protoporphyria
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Erythropoietic Protoporphyria - StatPearls - NCBI Bookshelf
WEBFeb 16, 2023 · 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.
Ncbi.nlm.nih.govErythropoietic protoporphyria - Wikipedia
WEBerythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful. It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. [2]
En.wikipedia.orgErythropoietic Protoporphyria Symptoms and Treatment
WEBApr 26, 2024 · erythropoietic protoporphyria is a rare inherited metabolic disorder that causes severe pain when the skin is exposed to sunlight. Other skin symptoms may include itching, burning, and swelling. There is no cure for EEP, and treatment generally involves protecting the skin from sunlight.
Verywellhealth.comErythropoietic Protoporphyria and X-Linked Protoporphyria
WEBJun 1, 2022 · erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene. Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood …
Rarediseases.orgErythropoietic protoporphyria | DermNet
WEBWhat is erythropoietic protoporphyria? 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.
Dermnetnz.orgErythropoietic Protoporphyria and X-linked Protoporphyria
WEBerythropoietic protoporphyria (EPP) causes severe pain, burning, erythema, and edema of exposed skin even after only brief exposure to sunlight; symptoms are not brought on by medications that trigger other porphyrias. Cirrhosis develops in about 10% of patients, sometimes progressing to liver failure.
Merckmanuals.comEvidence-based consensus guidelines for the diagnosis and …
WEBerythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders of the heme biosynthetic pathway characterized by the accumulation of protoporphyrin in erythrocytes, plasma, and the biliary system. 1 Although indistinguishable clinically, EPP results from loss-of-function variants in ferrochelatase (FECH), the
Ncbi.nlm.nih.govErythropoietic Protoporphyria and X-linked Protoporphyria
WEBerythropoietic protoporphyria (EPP) is due to an inherited deficiency in the activity of the enzyme ferrochelatase. X-linked protoporphyria (XLPP) is due to an inherited increase in the activity of delta-aminolevulinic acid synthase-2.
Msdmanuals.comErythropoietic Protoporphyria and X-linked Protoporphyria
WEBerythropoietic protoporphyria or X-linked protoporphyria should be suspected in children and adults with painful cutaneous photosensitivity who experience no blisters or scarring. Gallstones in children should prompt testing for EPP and XLPP.
Merckmanuals.comThe Diagnosis and Management of Erythropoietic Protoporphyria
WEBerythropoietic protoporphyria is thought to be the second most common porphyria seen in clinical practice. It is, however, commonly under-recognized and can lead to both cutaneous manifestations as well as derangement in hepatic function in a minority of patients.
Ncbi.nlm.nih.gov