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P orphyria. Rare disorder. 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). Causes.

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p orphyria

Porphyria

Rare disorder

porphyria
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).
causes
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).
s ymptoms
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
signs
Signs
  • Kidney problems or other problems
  • Bad reflexes
t reatment
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