Autosomal erythropoietic protoporphyria (EPP) is a genetic disease related to porphyrin metabolism. The main cause of EPP is a genetic mutation in the ferrochelatase enzyme called FECH. These mutations prevent the normal breakdown of porphyrins in cells and lead to photosensitivity when exposed to sunlight. Symptoms of EPP include extreme sensitivity, redness, swelling, burning sensation, and sometimes blistering skin reactions after exposure to sunlight. Diagnosis of EPP is made by evaluating symptoms and measuring porphyrin levels. Treatment aims to alleviate EPP symptoms. The treatment of EPP focuses on alleviating symptoms and improving quality of life. There is no definitive cure for the disease, but with symptom management and sun protection measures, patients can lead a normal life.
The main cause of autosomal erythropoietic protoporphyria is the dysfunction or deficiency of the ferrochelatase enzyme due to a genetic mutation or alteration. The causes of EPP are genetic, and there is no specific environmental trigger factor in this disease. Therefore, there is no specific measure to prevent or treat the development of the disease in individuals with EPP. Instead, management strategies such as alleviating symptoms and taking sun protection measures are used. Genetic counseling and support services for individuals with EPP can help them manage the disease and gain more information about their family history.
Symptoms of Autosomal Erythropoietic Protoporphyria
The main symptoms of autosomal erythropoietic protoporphyria are:
- fotosensitivity
- redness and burning sensation
- blistering
- permanent skin damage
- hearing problems
Diagnosis of Autosomal Erythropoietic Protoporphyria
The diagnosis of autosomal erythropoietic protoporphyria is made through the evaluation of symptoms and specific laboratory tests:
Evaluation of Symptoms: The diagnosis of EPP is based on the patient’s symptoms.
Porphyrin Levels: One of the most important tests for the diagnosis of EPP is measuring porphyrin levels in blood or stool samples.
DNA Tests: Genetic tests are used to detect mutations in the FECH gene, which is the cause of EPP.
Sun Exposure Test: If the diagnosis of EPP is uncertain, specialists sometimes perform a special test after exposure to sunlight on the skin.
Other Laboratory Tests: Blood tests or imaging tests may also be performed to evaluate liver and gallbladder function.
Treatment of Autosomal Erythropoietic Protoporphyria
The main approaches used in the management of autosomal erythropoietic protoporphyria are:
Avoiding Sun Exposure: It is important for individuals with EPP to avoid sunlight.
Special Clothing and Equipment: Wearing clothing that covers the body completely, such as long-sleeved shirts, long pants, and gloves, can provide extra protection against sunlight.
Managing Symptoms: Pain relievers, anti-inflammatory drugs, or special treatments for blisters can be used to alleviate symptoms after exposure to sunlight.
Proper Hydration: Drinking enough water can help eliminate porphyrins from the body through the kidneys.
Monitoring and Counseling: Individuals with EPP should be regularly monitored by a healthcare professional.
Education: Both individuals with EPP and their families should understand the disease and sun protection measures.
Light Filters: Special light filters can be used to alleviate EPP symptoms.
Management of Autosomal Erythropoietic Protoporphyria
The management of autosomal erythropoietic protoporphyria should focus on alleviating symptoms, controlling reactions caused by sun exposure, and improving quality of life:
Avoiding Sun Exposure: It is important for individuals with EPP to avoid sunlight.
Special Clothing and Equipment: Using clothing and equipment such as long-sleeved shirts, long pants, gloves, and special light filters can help reduce reactions caused by sun exposure.
Managing Symptoms: Pain relievers, anti-inflammatory drugs, or special treatments for blisters can be used to alleviate symptoms.
Proper Hydration: Drinking enough water can help eliminate porphyrins from the body through the kidneys.
Monitoring and Counseling: Individuals with EPP should be regularly monitored by a healthcare professional.
Education: Both individuals with EPP and their families should understand the disease and sun protection measures.
Light Filters: Special light filters can be used to alleviate EPP symptoms.