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What is porphyria?

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Porphyria is a group of diseases that occur due to accumulation of porphyrin-producing chemicals in the body, according to Mayo Clinic. Typically, it attacks the skin and the nervous system. Although most porphyria patients inherit the condition from their parents, the environment may play a role in its symptom development. Alcohol intake, sun exposure, smoking, physical and emotional stress, and drugs such as sulfonamide antibiotics and psychoactive drugs are a few environmental factors that trigger porphyria symptoms.

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Porphyria can either be acute or cutaneous, notes Mayo Clinic. While the skin is the main target of cutaneous porphyria, the nervous system is the main target of acute porphyria. Acute porphyria may cause abdominal inflammation, chest pain, palpitations, vomiting and abdominal pain. Constipation, difficulty breathing, hypertension, muscle pain and weakness, and seizures are other signs and symptoms of acute porphyria. Cutaneous porphyria, on the other hand, may cause skin itching, edema, blisters, increase in hair growth and scars.

An individual should visit a doctor immediately if the symptoms of porphyria appear to ensure early diagnosis and treatment of the condition. Complications of porphyria include liver damage, chronic kidney failure, low blood sodium and irreversible skin damage, states Mayo Clinic. Treatment of porphyria focuses on symptom alleviation. Use of pain-controlling medications and stopping symptom-causing medications are a few treatment options for porphyria. Other treatment options include phlebotomy and vitamin D supplements.

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