ERYTHROPOIETIC PROTOPORPHYRIA (EPP)
Is a rare genetic disorder that falls under the broader category of porphyrias. Porphyrias are a group of inherited or acquired disorders caused by deficiencies in enzymes involved in the production of heme, a component of hemoglobin. EPP specifically affects the enzyme ferrochelatase, which is responsible for incorporating iron into protoporphyrin IX to form heme.
CAUSES OF ERYTHROPOIETIC PROTOPORPHYRIA (EPP)
- EPP is a genetic disorder, typically inherited in an autosomal recessive manner. This means that an individual must inherit two abnormal copies of the responsible gene (one from each parent) to develop the disorder. The specific gene associated with EPP is the FECH gene.
- Porphyrias are a group of inherited or acquired disorders caused by deficiencies in enzymes involved in the production of heme, a component of hemoglobin
SIGN AND SYMPTOMS OF ERYTHROPOIETIC PROTOPORPHYRIA (EPP)
- Skin Photosensitivity: Exposure to sunlight or even artificial light can cause burning, itching, and swelling of the skin. This can lead to blistering, redness, and scarring. The symptoms can occur within minutes to hours after light exposure.
- Pain: The skin symptoms are often accompanied by pain or discomfort, which can be severe and significantly impact the individual's quality of life.
- Liver Involvement: In some cases, EPP can lead to liver complications, although this is less common. Liver involvement can cause abdominal pain, nausea, vomiting, and changes in liver function tests.
- Clinical Evaluation: A doctor will begin by taking a detailed medical history and conducting a physical examination. They will inquire about symptoms such as skin sensitivity to light, pain, and any history of photosensitivity reactions. The characteristic skin symptoms and their relationship to sun exposure are important diagnostic clues.
- Laboratory Tests: Laboratory tests can help confirm the diagnosis and assess the levels of porphyrins in the blood, stool, and urine. Protoporphyrin IX is the specific porphyrin that accumulates in EPP. Common laboratory tests include:
- Plasma Porphyrins: Blood samples are taken to measure the levels of protoporphyrin IX and other porphyrins in the plasma. Elevated protoporphyrin levels, especially after exposure to light, are indicative of EPP.
- Genetic Testing: Genetic testing can confirm the presence of mutations in the FECH gene, which is responsible for EPP. Molecular genetic testing can identify specific mutations in the FECH gene that are associated with EPP.
- Liver Function Tests: Although liver involvement is less common in EPP, liver function tests may be performed to assess liver health and rule out other potential liver-related conditions.
FEW HOMEOPATHIC MEDICINE FOR ERYTHROPOIETIC PROTOPORPHYRIA (EPP)
- Apis Mellifica: This remedy is often used for skin conditions with redness, swelling, stinging, and burning sensations. It may be considered for conditions such as hives, insect bites, and allergic skin reactions.
- Graphites: Graphites may be used for dry, rough, and cracked skin. It's often recommended for eczema with oozing and a tendency to form thick, honey-like discharge.
- Sulphur: Sulphur is a commonly used remedy for a wide range of skin issues, including itching, burning, and redness. It may be considered for conditions such as eczema, psoriasis, and acne.
- Rhus Toxicodendron: This remedy is often used for skin conditions with intense itching, redness, and a desire for warmth. It may be considered for conditions like poison ivy rash and herpes outbreaks.
- Calendula: Calendula is often used topically as a cream or ointment for wound healing, minor cuts, and skin irritations. It may also be used in homeopathic form for similar purposes.
- Urtica Urens: Urtica Urens is used for conditions with intense itching and burning sensations, such as hives or allergic reactions.
- Arsenicum Album: This remedy may be considered for conditions with dry, scaly, and itchy skin, often worsened by cold and relieved by warmth. It's commonly used for eczema and psoriasis.