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Porphyria

Stanley Binagi
Definition
• Porphyria refers to a group of disorders that result in a
  build-up of chemicals called porphyrins in your b...
Cause
• One cause, two ways:
     • Autosomal dominant inheritance pattern
     • Autosomal recessive inheritance pattern
...
Types
• There are two main categories of Porphyria,
  Acute and Cutaneous.
• Acute porphyrias forms of the disease that
  ...
Signs and Symptoms
• CUTANEOUS PORPHYRIA:
    •   Itching
    •   Erthema
    •   Skin swelling
    •   Blisters
    •   R...
Signs and Symptoms
• ACUTE PORPHYRIA:
  Insomnia                 Excessive sweating
  Anxiety                  Seizures
  ...
Treatment
• Acute porphyrias
  Treatment of acute porphyrias focuses on
  eliminating symptoms
     •   Stopping medicatio...
Treatment
• Cutaneous porphyrias
  Treatment of cutaneous porphyrias focuses on
  reducing the amount of porphyrins in you...
Reference
• Mayo Clinic articles
Porphyria
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Porphyria

  1. 1. Porphyria Stanley Binagi
  2. 2. Definition • Porphyria refers to a group of disorders that result in a build-up of chemicals called porphyrins in your body. • Although porphyrins are normal body chemicals, it's not normal for them to build up. The cause is usually an inherited mutation. • Porphyria typically affects your nervous system or skin or both. • Porphyria is usually inherited, but environmental factors may trigger the development of symptoms in some types of porphyria. • Although porphyria usually can't be cured, certain lifestyle changes may help you manage porphyria.
  3. 3. Cause • One cause, two ways: • Autosomal dominant inheritance pattern • Autosomal recessive inheritance pattern • The main cause is, the presence of an inherited mutation in one of the genes involved in heme production, which can cause an enzyme deficiency, which can lead to porphyrins building up in your body. • NB: Porphyrins are supposed to be converted into heme. This process requires 8 enzymes.
  4. 4. Types • There are two main categories of Porphyria, Acute and Cutaneous. • Acute porphyrias forms of the disease that cause predominantly NS symptoms and, in some cases, skin symptoms, as well. • Cutaneous porphyrias include forms of the disease that cause skin symptoms as a result of oversensitivity to sunlight, but don't affect your nervous system
  5. 5. Signs and Symptoms • CUTANEOUS PORPHYRIA: • Itching • Erthema • Skin swelling • Blisters • Red urine
  6. 6. Signs and Symptoms • ACUTE PORPHYRIA: Insomnia Excessive sweating Anxiety Seizures Severe abdominal pain Confusion Constipation Hallucination Vomiting Disorientation Diarrhoea Hypertension Pain in arms/legs/back Red urine Dehydration e.t.c
  7. 7. Treatment • Acute porphyrias Treatment of acute porphyrias focuses on eliminating symptoms • Stopping medication which may trigger it • Drugs to controll pain • Treatment of other associated diseases • Give IV glucose to maintain carbohydrate intake. • IV fluids to prevent dehydration • Hemin or hematin injections.
  8. 8. Treatment • Cutaneous porphyrias Treatment of cutaneous porphyrias focuses on reducing the amount of porphyrins in your body to help eliminate your symptoms. • Drawing blood (phlebotomy). This reduces the iron in your body, which decreases porphyrins • Medication. Drugs used to treat malaria — such as hydroxychloroquine and chloroquine — can absorb excess porphyrins and help your body get rid of them • Beta carotene. Daily doses of beta carotene or other carotenoids, such as canthaxanthin may increase your skin's tolerance to sunlight.
  9. 9. Reference • Mayo Clinic articles
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