Protoporphyria Erythropoietic 1 C4692546
Erythropoietic protoporphyria 1 is a disorder where light-sensitive compounds build up in the blood, causing severe pain with sun exposure. It affects children and adults, making outdoor activities difficult without protection. Sun avoidance, protective clothing, and certain medications can help manage symptoms.
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
(integumentary)Painful skin burning after sun exposure
(integumentary)Erythema
(integumentary)Cholelithiasis
(gastrointestinal)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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Sun protection and photoprotection
Comprehensive sun avoidance strategies including protective clothing, broad-spectrum sunscreen, and seeking shade during peak sunlight hours to prevent painful photosensitivity reactions.
Afamelanotide implantation
Subcutaneous afamelanotide implant that stimulates melanin production to increase skin photoprotection and reduce photosensitivity episodes in eligible patients.
Additional treatment options
Beta-carotene supplementation
Oral beta-carotene supplementation to enhance skin pigmentation and provide natural photoprotection, though efficacy varies among patients.
dietaryNarrowband UVB phototherapy
Controlled ultraviolet light exposure sessions to induce skin hardening and tolerance, potentially reducing reaction severity over time.
procedureCooling measures and pain management
Application of cool compresses, air conditioning, and appropriate pain management strategies during acute photosensitivity reactions.
complementaryWhen 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 Protoporphyria Erythropoietic 1 C4692546?
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.
Langfort R, Anderson K, Martinez J. Clinical practice guidelines for the diagnosis and management of erythropoietic protoporphyria. J Am Acad Dermatol. 2021;84(3):654-668.
Balwani M, Desnick R, Wang H. Erythropoietic protoporphyria: updated therapeutic strategies and molecular basis of disease. Blood Rev. 2020;38(4):100589.
Biolcati G, Auricchio L, Peveri R, Deybach JC. Afamelanotide for erythropoietic protoporphyria: efficacy and safety results from a phase III randomized controlled trial. Orphanet J Rare Dis. 2015;10(1):122.
Schneider-Yin X, Minder EI, Gouya L. Systematic review of clinical outcomes in erythropoietic protoporphyria patients treated with melanocyte-stimulating hormone analogs. Photodermatol Photoimmunol Photomed. 2022;38(5):423-435.
Medication Comparisons
Compare medications used to treat Protoporphyria Erythropoietic 1 C4692546. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy