Porphyria is a group of disorders in which the chemical porphyrin builds up in the body. Normally, porphyrin binds iron and carries oxygen to the organs and tissues. High levels of porphyrin may affect the skin and nervous system. There are two types of porphyria- acute and cutaneous types. Porphyria cutanea tarda (PTC) is the most common acquired (cutaneous) form. It may be caused due to genetic enzyme deficiency, too much iron, liver disease, estrogen medications, smoking or excessive alcohol use.
16 Alikes with Disorders of porphyrin metabolism
This group contains additional names:
- Porphyria
Symptoms of acute porphyria may include abdominal pain, chest pain, leg pain, back pain, constipation, diarrhea, nausea, vomiting, muscle pain, red or brown urine, weakness, mental changes, breathing problems, urination problems, palpitations, high blood pressure and seizures. Symptoms of cutaneous porphyrias include sun sensitivity, erythema, swelling, changes in skin pigment, itching,excessive hair growth and red or brown urine.
Diagnosis Is based upon findings from medical history and physical examination. Further evaluation may include blood, urine, or stool testing as well as genetic testing.
Treatment depends on the type of porphyria and may include avoiding the triggers. In acute porphyrias, injections of hemin, and intravenous glucose may be given. For cutaneous porphyria, treatment may include phlebotomy , anti malarial drugs and vitamin D supplement for those who avoid sun exposure.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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