Erythropoietic protoporphyria (EPP) is a rare, genetically inherited form of porphyria. This condition arises due to a deficiency or malfunction of one of the enzymes involved in the production of red blood cells. EPP is characterized by elevated levels of protoporphyrin, which lead to extreme skin sensitivity and pain. EPP can limit individuals’ daily lives and activities, making psychosocial support crucial. Raising awareness about EPP and developing strategies to ease patients’ daily lives is essential.
What Causes Erythropoietic Protoporphyria?
The causes of erythropoietic protoporphyria are:
Genetic Mutations: EPP usually results from mutations in the ferrochelatase gene. This gene encodes the enzyme ferrochelatase, which combines protoporphyrin with iron to form heme during biosynthesis.
Autosomal Recessive Inheritance: EPP exhibits autosomal recessive inheritance, meaning the individual must inherit the defective gene from both carrier parents to develop the disease.
Rare ALAS2 Gene Mutation: In rare cases, mutations in the ALAS2 gene on the X chromosome can also lead to EPP.
What Are the Symptoms of Erythropoietic Protoporphyria?
The symptoms of erythropoietic protoporphyria include:
- Severe burning and pain in the skin after exposure to sunlight
- Redness
- Swelling
- Itching
- Blisters and sores on the skin
- Permanent thickening or hardening of the skin
- Mild anemia
- Liver dysfunction
How Is Erythropoietic Protoporphyria Diagnosed?
Erythropoietic protoporphyria is a rare genetic disorder that can be diagnosed through both biochemical and genetic tests. The diagnosis process of EPP typically includes the following steps:
Clinical Evaluation: The patient’s symptoms like skin sensitivity and phototoxicity are evaluated. In EPP, symptoms such as pain, swelling, and redness after sun exposure are common.
Blood Tests: High levels of protoporphyrin, especially in red blood cells, are detected in the blood.
Urine Tests: Abnormal levels of porphyrins are usually not found in urine because protoporphyrin is not excreted through urine.
Fecal Tests: High levels of protoporphyrin may be found in feces.
Genetic Tests: The genetic basis of EPP usually involves mutations in the FECH gene. Genetic tests are used to confirm mutations in the FECH gene.
Erythrocyte Protoporphyrin Test: Measuring free protoporphyrin levels in red blood cells is also important for diagnosing EPP. High levels can confirm EPP.
Fluorometric Analyses: By taking a skin biopsy, the porphyrin content and distribution in the skin can be examined using fluorometric methods.
How Is Erythropoietic Protoporphyria Treated?
The treatment of erythropoietic protoporphyria focuses on alleviating symptoms and preventing complications. Treatment and management strategies may include:
Sunscreen: Use high-protection factor sunscreen.
Protective Clothing: Wear long-sleeved clothing, hats, and gloves as protective garments.
Avoiding Sunlight: Avoid direct sunlight, especially during midday hours.
Oral Beta-Carotene: Beta-carotene supplements can reduce skin sensitivity, although the effects vary from person to person.
Afamelanotide Implants: This drug can increase melanin production and reduce sun damage to the skin. It is used in Europe and some other countries.
Luzindole: One of the drugs that provide photoprotection and reduce skin damage.
Vitamin D: Due to sun avoidance, vitamin D deficiency may develop, so vitamin D supplements may be recommended.
Liver Monitoring: EPP can lead to liver problems, so regular liver function tests are necessary.
Pain Management: Managing pain related to sunburns and skin lesions.
Psychosocial Support: Receiving support for the psychological challenges of living with a chronic illness.
How Should Erythropoietic Protoporphyria Be Managed?
Managing erythropoietic protoporphyria should include various strategies to alleviate symptoms and prevent complications. The management of EPP includes precautions in daily life and medical follow-ups:
Avoiding Sunlight: Avoid going outside between 10:00 AM and 4:00 PM when the sun’s rays are the strongest.
Protective Clothing and Accessories: Use long-sleeved, tightly woven clothing, wide-brimmed hats, and UV-protected glasses.
Using Sunscreen: Use high-protection factor (SPF 50+), broad-spectrum sunscreens and reapply regularly.
Beta-Carotene Supplements: Take beta-carotene supplements as recommended by your doctor to reduce skin sensitivity.
Vitamin D Supplements: Due to the risk of vitamin D deficiency from sun avoidance, take vitamin D supplements as recommended by your doctor.
Afamelanotide Implants: Discuss with your doctor about afamelanotide implants that increase melanin production and protect the skin.
Regular Liver Function Tests: Maintain a healthy diet to protect liver functions.
Psychological Counseling: Get support for coping with chronic illness and improving quality of life.
Support Groups: Communicate with other individuals living with EPP and share experiences.
Avoiding Injuries: Be careful to reduce the risk of skin injuries and infections.
Healthy Diet and Exercise: Strengthen your immune system and maintain overall health through a balanced diet and regular exercise.
Education and Awareness: Inform family members and friends about EPP to get support in managing the disease.
Regular Doctor Visits: Schedule regular appointments with a dermatologist and genetic disorders specialist.
Emergency Plan: Create an emergency plan for what to do in case of a severe skin reaction.