Porphyria, Causes, Signs and Symptoms, Diagnosis and Treatment.

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  • čas přidán 15. 06. 2024
  • .
    Chapters
    0:00 Introduction
    1:43 Causes of Porphyria
    2:17 Symptoms of Porphyria
    3:20 Diagnosis of Porphyria
    3:49 Treatment of Porphyria
    Porphyria is a group of liver disorders in which substances called porphyrins build up in the body, negatively affecting the skin or nervous system.[1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration.[1] Symptoms of an attack include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, and high heart rate.[1][2][4] The attacks usually last for days to weeks.[2] Complications may include paralysis, low blood sodium levels, and seizures.[4] Attacks may be triggered by alcohol, smoking, hormonal changes, fasting, stress, or certain medications.[2][4] If the skin is affected, blisters or itching may occur with sunlight exposure.[2]
    Most types of porphyria are inherited from one or both of a person's parents and are due to a mutation in one of the genes that make heme.[2] They may be inherited in an autosomal dominant, autosomal recessive, or X-linked dominant manner.[1] One type, porphyria cutanea tarda, may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.[1] The underlying mechanism results in a decrease in the amount of heme produced and a build-up of substances involved in making heme.[1] Porphyrias may also be classified by whether the liver or bone marrow is affected.[1] Diagnosis is typically made by blood, urine, and stool tests.[2] Genetic testing may be done to determine the specific mutation.[2]
    Treatment depends on the type of porphyria and the person's symptoms.[2] Treatment of porphyria of the skin generally involves the avoidance of sunlight, while treatment for acute porphyria may involve giving intravenous heme or a glucose solution.[2] Rarely, a liver transplant may be carried out.[2]
    The precise prevalence of porphyria is unclear, but it is estimated to affect between 1 and 100 per 50,000 people.[1] Rates are different around the world.[2] Porphyria cutanea tarda is believed to be the most common type.[1] The disease was described as early as 370 BC by Hippocrates.[5] The underlying mechanism was first described by German physiologist and chemist Felix Hoppe-Seyler in 1871.[5] The name porphyria is from the Greek πορφύρα, porphyra, meaning "purple", a reference to the color of the urine that may be present during an attack.[5]

Komentáře • 19

  • @jaelynrae6045
    @jaelynrae6045 Před 2 lety +13

    I love seeing the increase in global awareness about Porphyria in recent months!!!
    While the info here was a bit scattered in the way it was presented, and a bit...error...misleading at times (I don't want to say wrong, but...😬), it's still desperately needed exposure, so kudos for that!
    The parts that are a bit...confused...are 100% understandable and forgivable, because much of the content online about Porphyria is also outdated, and/or inaccurate (even on very reputable medical sites!!!) *sigh*
    If you have any additional questions about Porphyria, feel free to ask! I have Hereditary Coproporphyria, or HCP, and while I am most knowledgeable about my own subtype, I know a fair bit about the types as well. 😉

    • @zohrashaik
      @zohrashaik Před rokem

      Hi, I know this is an old post but just wanted to ask about your symptoms.
      I can't be out in the sun and I also have severe muscle and abdominal pain from time to time. Not sure exactly which type of porphyria I have but I was told that I have it. Any info will be appreciated.

  • @thatdesignfeelgaming
    @thatdesignfeelgaming Před měsícem

    Thank you for this video - very informative

  • @TenazInternational
    @TenazInternational Před rokem +2

    Thank You for excellent info

  • @khannishat9825
    @khannishat9825 Před rokem +1

    Amazing videos Thank you

  • @CrankyPantss
    @CrankyPantss Před 2 lety +1

    Very interesting.

  • @christopherjacobs9670
    @christopherjacobs9670 Před 11 měsíci +1

    I Have Cutaneous porphyria from PR Many times the y have told me that they are no treat meants and i just gotta endure and Its crazy to some one who is in constant pain most of the time

  • @ibrahimelguindy9484
    @ibrahimelguindy9484 Před rokem

    Thank you VM for your clear English. I don't know how is the prevelannce of porphyria in Egypt?.for my
    32 years of practice I didn't
    See any case?

  • @clarejennings5049
    @clarejennings5049 Před rokem +1

    Jeez.. I feel really bad for the victims ☹️😢

  • @leahbrum9971
    @leahbrum9971 Před 2 lety +1

    I have Hemochromatosis and Porpheria. Not sure what type but wondering what to expect if you have both. I'm experiencing chronic pain in my bones, nerves, muscles , etc.

    • @jaelynrae6045
      @jaelynrae6045 Před 2 lety +1

      If you have hemochromatosis and also suspect porphyria, then the only type it could be is PCT (porphyria cutanea tarda), which is the only environmentally acquired (vs inherited) form of Porphyria and is the 2nd most common, after AIP. Some find relief from PCT symptoms through regular sessions of blood removal (similar to those who donate a pint or two monthly at a local blood bank...except yours would most likely happen at your Dr's office).
      If you haven't already, get connected with the American Porphyria Foundation. They have tons of resources available for anyone with, or who suspects they may have porphyria.

    • @whitneyg.1860
      @whitneyg.1860 Před rokem

      What sort of environmental things trigger it? My doctor is supecting I have this and I also have hemochromatosis..I was exposed to black mold prior to my illness starting but it seems that birth control triggered my symptoms…

    • @RandyDuffey
      @RandyDuffey Před 2 měsíci +1

      I also have Hemachromotosis and Porphyria (PCT). I was diagnosed in 2012, and believe me I feel your pain. It's such a painful rare disease. You're the 1st person I've met that has both Porphyria and HeMo as well

  • @yogamayaa
    @yogamayaa Před rokem

    Is psedoporphyria same as this?

  • @denis_ursu5487
    @denis_ursu5487 Před 2 lety

    👍 (but vomiting at 2:26)

  • @Seaquest112
    @Seaquest112 Před rokem +2

    Yeah I feel pity- you would too if you were sick every day of your life snd it just passed you by filled with ignorant judgement- few understand and noone cares .