P orphyria

1. Porphyria Rare disorder

2. Porphyria • Porphyria is a group of rare genetic disorders, in which an important part of hemoglobin, called Heme, is not made properly. • There are many different forms of this. The most common type is porphyria cutanea tarda (PCT).

3. Causes • Normally, the body makes heme in a many-step process. Porphyrins are made during several steps of this process. Patients with porphyria have a deficiency of certain enzymes needed for this process. This causes abnormal amounts of porphyrins or related chemicals to build up in the body (the excess skin or bubbles).

4. Symptoms • Abdominal pain or cramping (only in some forms of the disease) • Light sensitivity causing rashes, blistering, and scarring of the skin (photodermatitis) • Problems with the nervous system and muscles • Muscle pain or muscle weakness or paralysis • Numbness or tingling • Arm or leg pain • Back pain • Personality changes • Low blood pressure • Severe electrolyte imbalances • Shock

5. Signs • Kidney problems or other problems • Bad reflexes

6. Treatment • No cure • Hematingiven through a vein • Pain medication • Propranolol to control the heartbeat • Sedatives to help you feel sleepy and less anxious • Beta-carotene supplements • Chloroquine • Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins • Removal of blood (phlebotomy) • Depending on the type you have, your may need you to: • Avoid alcohol • Avoid drugs that may trigger an attack • Avoid injuring the skin • Avoid sunlight • Eat a high-carbohydrate diet • Use sun screen