Is EPP a blood disorder?

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 is EPP blood disease?

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 is an EPP medical?

Exposure prone procedures (EPPs) are procedures where there is a risk of injury to the HCW resulting in exposure of the patient’s open tissues to the blood of the HCW.

What are EPP symptoms?

EPP causes skin pain on exposure to sunlight, most often on the tops of the hands and feet, face and ears. Pain can be severe and last days after sun exposure. There may not be anything to see at the time. Prolonged exposure can result in some redness and swelling, and uncommonly in blistering and crusting.

Is erythropoietic Protoporphyria an autoimmune disease?

CORONADO, CALIF. — It is a wise rheumatologist who knows when to refer a child to a dermatologist, judging from cases reported at the annual meeting of the Pacific Dermatologic Association. Dr.

Is erythropoietic Protoporphyria rare?

Erythropoietic Protoporphyria affects males and females in equal numbers. It is estimated that the disorder occurs in about 1 in about 74,300 individuals.

Do nurses perform EPP?

10.19 Nursing General nursing procedures do not include EPP s. The duties of operating theatre nurses should be considered individually.

How do you test for EPP?

EPP is usually diagnosed during infancy or early childhood, due to characteristic skin symptoms. The diagnosis may be confirmed by testing the red blood cells (erythrocytes) for increased levels of protoporphyrin.

How common is erythropoietic Protoporphyria?

Is Protoporphyria recessive or dominant?

Mode of Inheritance Erythropoietic protoporphyria (EPP) is inherited in an autosomal recessive manner.

What are the symptoms of EPP and xlpp?

EPP and XLPP are nearly identical clinically. They typically manifest in infancy with itching or burning skin pain after even short exposure to sunlight. Gallstones are common later in life, and chronic liver disease occurs in about 10%. Diagnosis is based on symptoms and increased levels of protoporphyrin in red blood cells and plasma.

Are there any medications for the treatment of EPP?

A medication known as Afamelanotide (Scenesse®), a synthetic α-melanocyte stimulating hormone (a melanocyte is a skin cell that produces melanin, a skin-darkening pigment) analog was approved for treatment of EPP by the European Medicines Agency in 2014 and is awaiting approval in United States by the FDA.

What is the difference between EPP and X linked protoporphyria?

Some patients with symptoms of EPP have a genetic change in a different gene called ALAS2. When a patient has a genetic change in this gene, the condition is referred to as X-linked protoporphyria (XLP).

Can a bone marrow disorder cause the development of EPP?

However, this does not replace DNA studies. Rarely, EPP develops in adults in the presence of a bone marrow disorder such as polycythemia vera, and is due to expansion of a clone of red blood cell precursors in the marrow that is deficient in ferrochelatase.