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Erythropoietic protoporphyria (Porphyria)

Discussion in 'JF Doctor' started by njiwa, Apr 28, 2011.

  1. njiwa

    njiwa JF-Expert Member

    Apr 28, 2011
    Joined: Apr 16, 2009
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    Asalam alykum ndugu zangu kwa wale wenzangu amani ya bwana iwe juu yenu...

    Have u ever seen some 1 allergic to lights..??? Ugonjwa kwa kitaalamu unajulikana Acute intermittent porphyria or Hereditary coproporphyria or Congenital erythropoietic porphyria or Erythropoietic protoporphyria ..... kwa pamoja inajulikana as Porphyria, i have seen this case last night when i was on full moon "night shifts" on ER

    what is Porphyria

    are a group of rare disorders passed down through families, in which an important part of hemoglobin, called heme, is not made properly. Heme is also found in myoglobin, a protein found in certain muscles.

    how does it occur

    Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. Patients with poryphyria have a lack (deficiency) of certain enzymes needed for this process. This causes abnormal amounts of porphyrins (or related chemicals) to build up in the body.

    There are many different forms of porphyria. The most common type is porphyria cutanea tarda (PCT).

    Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.

    Porphyrias involve three major symptoms

    1) Abdominal pain or cramping (only in some forms of the disease)

    2) Light sensitivity causing rashes and scarring of the skin (photodermatitis)

    3) Problems with the nervous system and muscles ( seizures, mental disturbances)

    Attacks can occur suddenly, usually with severe stomach pain followed by vomiting and constipation. Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. They may be disfiguring. Urine may turn red or brown after an attack.


    Other symptoms may include:

    Muscle pain

    Muscle weakness or paralysis

    Numbness or tingling

    Pain in the arms or legs

    Pain in the back

    Personality changes

    Attacks can sometimes be life threatening, producing severe electrolyte imbalances, low blood pressure, and shock.

    Ukienda kwa dactari Your doctor will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The doctor may find that your deep tendon reflexes (knee jerks) do not work properly.

    Blood and urine tests may reveal kidney problems or other problems. Special tests can measure porphyrins in the blood.

    Some of the other tests that may be done include:

    Blood gases

    BUN (Arterial blood gas analysis; ABG)

    Creatinine clearance (Blood urea nitrogen)

    Liver function tests

    Serum creatinine

    Serum potassium

    Tests to measure the level of porphyrins and other chemicals linked to this condition



    Some of the medicines used to treat a sudden (acute) attack of porphyria may include:

    Hematin given through a vein (intravenously)

    Pain medication

    Propranolol to control the heartbeat

    Sedatives to help you feel sleepy and less anxious

    Other treatments may include:


    Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins

    Removal of blood (phlebotomy)

    Beta-carotene supplements

    Depending on the type of porphyria you have, your doctor may tell you to:

    Avoid all alcohol

    Avoid drugs that may trigger an attack

    Avoid injuring the skin

    Avoid sunlight as much as possible and use sunscreen when outside

    Eat a high-carbohydrate diet.

    Expectations (prognosis)

    Porphyrias are life-long diseases with symptoms that come and go. Some forms of the disease cause more symptoms than others. Proper treatment and avoidance of triggers can help reduce the time between attacks.




    Lung failure

    Loss of movement (paralysis) that gets worse

    Scarring of the skin


    Genetic counseling may be of benefit to prospective parents with a family history of any type of porphyria.

    read more about this rare genetic disorder on new england journal of medicine

    PDF http://www.nejm.org/doi/pdf/10.1056/NEJMc0805682

    P.S Iam not Doctor but Iam a Med student on Clinical Years at LLUMC
    Loma Linda University Medical Center