Porphyria

Porphyria is a rare metabolic disorder caused by an enzymatic defect in heme biosynthesis. It results from the failure of chemical changes in the body called porphyrins and porphyrin precursors into heme, which gives blood its red color. Causes include inherited mutations, female sex hormones, medications, nutrient intake, and habits like alcohol consumption and smoking. Porphyria is classified into acute and cutaneous forms, with acute porphyria presenting with life-threatening attacks, cutaneous porphyria with skin lesions. Porphyria result from a deficiency of any of the last 7 enzymes of the heme biosynthetic pathway or from increased activity of the erythroid form of the first enzyme in the pathway. Clinical manifestations include abdominal pain, psychiatric symptoms, peripheral neuropathies, hypertension, tachycardia, central nervous system signs, red or brown urine, mild anaemia, and cutaneous manifestations such as photosensitivity, skin blisters, vesicles, bullae, and increased fragility of the skin. Treatment options include hemin infusion, seizure management, phlebotomy.