Porphyria

Porphyria is a group of genetic disorders in which cells fail to change chemicals called porphyrins into the substance called haem that gives blood its colour. The porphyrins thus build to toxic levels in the body. There are seven different types of porphyria, each caused by a slightly different enzyme deficiency. It may be acute or non-acute. Depending on the type of porphyria, symptoms may include red urine, sensitivity to sunlight, blister formation or skin swelling on exposure to sunlight, photodermatitis, cramping abdominal pain, constipation, vomiting, pain in the limbs and/or back, personality changes, numbness/tingling, muscle pain, and muscle weakness or paralysis. Treatment options in the case of acute porphyria includes maintaining the electrolyte balance, monitoring blood gases, increasing carbohydrates, and administering medication and hemin. In the long term, treatment may include eliminating alcohol, avoiding medications that may trigger attacks, high carbohydrate diets, sunscreen, avoiding skin trauma, and beta-carotene.

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