What is X-linked Erythropoietic Protoporphyria?
X-linked Erythropoietic Protoporphyria (XLEPP) is a rare genetic disorder characterized by sensitivity to sunlight, causing painful skin reactions and sometimes liver complications. It primarily affects males due to its X-linked inheritance.
What Causes X-linked Erythropoietic Protoporphyria?
Genetic Mutation:
Caused by mutations in the ALAS2 gene located on the X chromosome, which affects heme production in red blood cells.
Inheritance:
Inherited in an X-linked recessive pattern, mainly affecting males. Female carriers may have mild or no symptoms.
Symptoms of X-linked Erythropoietic Protoporphyria
Symptoms usually appear in childhood and include:
- Painful burning or itching sensation on the skin after sun exposure
- Redness, swelling, and sometimes blistering of sun-exposed skin
- Darkening or thickening of the skin over time
- In some cases, liver problems such as cholestasis or liver failure
How is X-linked Erythropoietic Protoporphyria Diagnosed?
Diagnosis involves:
- Clinical Evaluation: Based on skin symptoms and history of sun sensitivity
- Blood and Urine Tests: Elevated levels of protoporphyrin in red blood cells and plasma
- Genetic Testing: Identifying mutations in the ALAS2 gene
- Liver Function Tests: To monitor potential liver involvement
How is X-linked Erythropoietic Protoporphyria Treated?
Treatment focuses on symptom management and preventing complications:
- Sun Protection: Avoiding sunlight and using protective clothing and sunscreens
- Medications: Such as beta-carotene or afamelanotide to reduce photosensitivity
- Management of Liver Disease: Monitoring and treatment if liver problems develop
- Blood or Bone Marrow Transplant: In severe cases with liver failure
Prognosis of X-linked Erythropoietic Protoporphyria
Many individuals manage symptoms well with sun avoidance. Liver complications can be serious but are less common.
Can X-linked Erythropoietic Protoporphyria Be Prevented?
Prevention is not possible due to genetic causes. Genetic counseling is recommended for affected families.