Protoporphyria erythropoietica (EPP) is a rare inherited disorder that causes protoporphyrin IX to accumulate in blood, skin, and other tissues. Here's a straightforward overview of EPP, covering its causes, symptoms, diagnosis, treatment, and prevention. This disorder affects the body's ability to produce heme, a component of hemoglobin.
Causes
Mutations in the genes responsible for the production of enzymes involved in heme synthesis, particularly the FECH gene, cause erythropoietic protoporphyria. The body accumulates protoporphyrin IX because of these mutations, disrupting the normal process of heme production.
Symptoms
Symptoms of erythropoietic protoporphyria include photosensitivity, which causes severe pain and discomfort when exposed to sunlight or artificial light sources.
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Experiencing burning, itching, or stinging on exposed skin
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After exposure to the sun, the skin may become red, swollen, or blistered
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Changes in the skin, such as thickening or scarring, over time
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Complications of the liver, such as elevated liver enzymes or gallstones, may occur
Diagnosis
An erythropoietic protoporphyria diagnosis involves a combination of clinical evaluation, laboratory tests, and genetic testing. Diagnostic steps may include:
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Examining the patient's medical history and symptoms, particularly any history of sun sensitivity or skin reactions
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Testing blood for protoporphyrin IX and other porphyrins
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Genetic testing to identify mutations in the FECH gene or other genes associated with EPP
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Protoporphyrin deposits in the skin can be evaluated with a skin biopsy
Treatment
Erythropoietic protoporphyria is managed by minimizing symptoms and reducing complications. Treatment options include:
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Sunlight and artificial light sources should be avoided, especially during peak UV radiation hours
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Protecting the skin and eyes from sunlight with protective clothing, hats, and sunglasses
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Before going outdoors, apply broad-spectrum sunscreen with a high SPF
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Beta-carotene supplements, which may increase sunlight tolerance
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In severe cases with significant liver complications, liver transplantation may be considered, but it is not a cure for EPP
Prevention
An important part of preventing exacerbations of erythropoietic protoporphyria is adhering to sun protection measures and avoiding known triggers. These include:
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During peak sunlight hours, typically between 10 a.m. and 4 p.m., stay indoors.
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Using UV-protective window films or tints at home and in vehicles
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Informing family members, caregivers, and healthcare providers about the condition and its treatment
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In case of new or worsening symptoms, particularly skin reactions or liver problems, seek medical attention right away
An erythropoietic protoporphyria is a rare genetic disorder characterized by photosensitivity and the accumulation of protoporphyrin IX. Symptom management and sun protection measures can help improve quality of life and reduce complications in EPP, even though there is no cure.
