Porphyria: A metabolic disorder

Porphyrias are heterogenous group of metabolic disorders arising from defects in the heme biosynthetic pathway, each being characterized by a specific partial enzyme deficiency. Also, a flawed gene that control the action of enzyme in the heme synthesis creates a lack of heme and build up of porphyrin. Porphyria can be triggered by environmental factors such as; infections, cigarette smoking, antibiotics, etc. Porphyria can be classified into acute porphyria that causes neurological symptoms, and cutaneous porphyria that cause photosensitivity, affecting the skin. In cutaneous porphyria, the two distinct pattern of skin disease seen are the immediate photosensitivity and vesiculo-erosive skin disease. Symptoms include; abdominal pain, muscle weakness, hallucination, pain in the back or chest, burning pain on the skin, red or brown urine. Long term complication include paralysis, skin scarring, permanent hair loss, gall stones, breathing difficulties, dehydration. It can be diagnosed using blood, urine and stool samples, urine estimation of porphobilinogen is also done. Treatment of porphyria include; administration of heme arginate, regular blood removal, low doses of antimalarial drug, narrow band UVB therapy, avoidance of triggers. It can be prevented by avoiding factors that precipitate it such as; stress, fasting, infection, alcohol.