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Disorders of porphyrin metabolism

by Alike Medical Team ∙ Updated on June 13, 2023

Additional names

This group contains additional names: - Porphyria

General

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.

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Signs & symptoms

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

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

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.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

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