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X-Linked Protoporphyria

Abstract

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NORD is very grateful to Maureen Poh-Fitzpatrick, MD, Professor Emerita and Special Lecturer (Dermatology), Columbia University College of Physicians and Surgeons and Professor of Dermatology, University of Tennessee College of Medicine, for assistance in the preparation of this report.

Synonyms of X-Linked Protoporphyria

  • XLDPP
  • X-linked dominant protoporphyria
  • XLP

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
X-linked protoporphyria is an extremely rare genetic disorder characterized by an abnormal sensitivity to the sun (photosensitivity) that can cause severe pain, burning, and itching of sun-exposed skin. Symptoms may occur immediately or shortly after exposure to the sun, including direct exposure or indirect exposure such as sunlight that passes through window glass or that is reflected off water or sand. Redness and swelling of affected areas can also occur. Blistering and scarring usually do not occur. Chronic episodes of photosensitivity may lead to changes in the skin of sun-exposed areas. Some individuals eventually develop potentially severe liver disease. X-linked protoporphyria is caused by mutations of the ALAS2 gene and is inherited as an X-linked dominant trait. Males often develop a severe form of the disorder while females may not develop any symptoms (asymptomatic) or can develop a form as severe as that seen in males.

Introduction
X-linked protoporphyria belongs to a group of disorders known as the porphyrias. This group of at least seven disorders is characterized by abnormally high levels of porphyrins and porphyrin precursors due to deficiency of certain enzymes essential to the creation (synthesis) of heme, a part of hemoglobin and other hemoproteins. There are eight enzymes in the pathway for making heme and at least eight different forms of porphyria. The symptoms associated with the various forms of porphyria differ. It is important to note that people who have one type of porphyria do not develop any of the other types. Porphyrias are generally classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and porphyrin precursors and related substances originate in excess amounts chiefly from the liver in the hepatic types and mostly from the bone marrow in the erythropoietic types. Porphyrias with skin manifestations are sometimes referred to as "cutaneous porphyrias." The term "acute porphyria" is used to describe porphyrias that can be associated with sudden attacks of pain and other neurological symptoms.

X-linked protoporphyria is an erythropoietic form of porphyria and is extremely similar clinically to erythropoietic protoporphyria (EPP). X-linked protoporphyria was first described in the medical literature in 2008.

Organizations related to X-Linked Protoporphyria

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