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What is erythropoietic protoporphyria symptoms?

What is erythropoietic protoporphyria symptoms?

The most common symptom of Erythropoietic Protoporphyria is hypersensitivity of the skin to sunlight and some types of artificial light (photosensitivity), with pain, itching, and/or burning of the skin occurring after exposure to sunlight and occasionally to fluorescent light.

Is there a cure for erythropoietic protoporphyria?

EPP is the third most common porphyria—estimated to occur in about 1 in about 74,300 individuals—and the type most often seen in children. Women and men appear to be equally affected. While there is currently no known cure for EPP, there are ways to manage it.

Is erythropoietic porphyria genetic?

Causes. Congenital erythropoietic porphyria is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent.

How can erythropoietic Protoporphyria be prevented?

Prevention of phototoxicity in EPP is by avoiding sunlight by using sun protective clothes including long sleeve tops, long pants, hats and sunglasses. Sunscreens containing physical reflecting ingredients can reduce the amount of light penetrating the skin.

How many people in the world have 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.

What causes erythropoietic porphyria?

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.

What does erythropoietic porphyria mean?

Erythropoietic protoporphyria (EPP) is an inherited porphyria resulting in the accumulation of protoporphyrins in red blood cells that causes acute, painful photosensitivity and potential liver disease. It typically presents in early childhood with immediate pain and crying upon exposure to bright sunlight.

Can you have 2 types of porphyria?

There are two general categories of porphyria: acute, which mainly affects the nervous system, and cutaneous, which mainly affects the skin.

What is erythropoietic organ?

(eh-RITH-roh-poy-EE-sis) The formation of red blood cells in blood-forming tissue. In the early development of a fetus, erythropoiesis takes place in the yolk sac, spleen, and liver. After birth, all erythropoiesis occurs in the bone marrow.

What is trigger of porphyria?

Porphyria can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to the sun.

How is erythropoietic protoporphyria (EPP) diagnosed?

The diagnosis of Erythropoietic Protoporphyria (EPP) may be made by a thorough clinical evaluation, characteristic physical findings, and specialized laboratory tests.

What are the symptoms of erythropoietic protoporphyria?

An Overview of Erythropoietic Protoporphyria 1 Symptoms. The most common symptom of EPP is photosensitivity, which means a person experiences pain or other skin symptoms when they are in the sun. 2 Causes. EPP is most often caused by mutations in the ferrochelatase gene (FECH). 3 Diagnosis. 4 Treatment.

What are the symptoms of epidermolytic porphyria?

Patients with EPP can experience severe pain when they are in the sun or even exposed to some intense artificial lighting. These symptoms usually begin in childhood and persist throughout a patient’s life. EPP is the third most common porphyria—estimated to occur in about 1 in about 74,300 individuals—and the type most often seen in children.

Is there a cure for epidermal porphyria?

EPP is the third most common porphyria—estimated to occur in about 1 in about 74,300 individuals—and the type most often seen in children. Women and men appear to be equally affected. While there is currently no known cure for EPP, there are ways to manage it.