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X-Linked Protoporphyria

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report X-Linked Protoporphyria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • XLP
  • XLDPP
  • X-linked dominant protoporphyria

Disorder Subdivisions

  • None

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.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Internet: http://www.CLIMB.org.uk



American Porphyria Foundation

4900 Woodway, Suite 780

Houston, TX 77056-1837

Tel: (713)266-9617

Fax: (713)840-9552

Tel: (866)273-3635

Email: porphyrus@aol.com

Internet: http://www.porphyriafoundation.com



Erythropoietic Protoporphyria Research and Education Fund

Channing Lab

Harvard Medical School

221 Longwood Avenue

Boston, MA 02115

Tel: (617)525-8249

Tel: (800)638-6294

TDD: (617)732-6458

Email: mmmathroth@rics.bwh.harvard.edu

Internet: http://www.brighamandwomens.org/Patients_Visitors/patientresources/patienteducation/eppref/



British Porphyria Association

136 Devonshire Rd

Durham City, DH1 2BL

United Kingdom

Tel: 01474369231

Email: helpline@porphyria.org.uk

Internet: http://www.porphyria.org.uk



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Norwegian Porphyria Centre

Haukeland University Hospital

Postboks 7804

Jonas Liesvei 65

Bergen, NO-5021

Norway

Tel: 4755973050

Fax: 4755973115

Email: porfyri@helse-bergen.no

Internet: http://www.napos.no



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  3/10/2013

Copyright  2013 National Organization for Rare Disorders, Inc.

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