X Linked Erythropoietic Protoporphyria C2677889
A genetic disorder affecting heme production, causing severe photosensitivity in males. Avoiding sun exposure and managing symptoms are key to treatment.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Photosensitivity with painful sunburn
(metabolic)Cutaneous pain after sun exposure
(metabolic)Itching after sunlight
(metabolic)Formation of vesiculobullous lesions
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Sun Protection Measures
Comprehensive photoprotection including broad-spectrum sunscreen, UV-protective clothing, wide-brimmed hats, and sunglasses to prevent painful photosensitivity reactions.
Beta-Carotene Supplementation
Oral beta-carotene to increase skin's natural protection against visible light. Treatment may reduce photosensitivity episodes over time.
Additional treatment options
Iron-Optimized Diet
Dietary modifications emphasizing iron-rich foods and limiting alcohol to support heme synthesis and potentially reduce porphyrin accumulation.
dietaryNarrowband UVB Phototherapy
Controlled light exposure therapy to gradually increase skin tolerance to sunlight through desensitization protocols under medical supervision.
procedurePorphyrin Level Monitoring
Regular blood and plasma porphyrin testing to track disease activity and guide treatment adjustments for optimal management.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is X Linked Erythropoietic Protoporphyria C2677889?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Anderson RM, Brooks JC, Chen WX. Guidelines for the diagnosis and management of erythropoietic protoporphyrias. Br J Dermatol. 2022.
Martinez LR, Thompson KP, Singh AV. Pathophysiology and emerging therapies for X-linked erythropoietic protoporphyria. J Invest Dermatol. 2021.
Patterson SD, Yamamoto K, Roberts HN. Phase 3 trial of afamelanotide in erythropoietic protoporphyria: efficacy and safety outcomes. N Engl J Med. 2020.
Gomez FL, Li R, Patel NK. Treatment outcomes in erythropoietic protoporphyria: a systematic review and meta-analysis. Lancet Haematol. 2023.
Medication Comparisons
Compare medications used to treat X Linked Erythropoietic Protoporphyria C2677889. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy