The 6 Main Symptoms of Porphyria!

The Main Symptoms of Porphyria that everyone should be aware of. Furthermore, Porphyria is a group of rare and inherited blood disorders. People with these disorders do not produce hema, a component of hemoglobin ( a protein in red blood cells that carries oxygen), properly. Heme is made from porphyrin (a naturally occurring organic compound in the body) bound to Iron . So, check out  The Top 6 Symptoms of Porphyria:

What is Porphyria: Porphyrias are a group of at least eight diseases, inherited and acquired, that occur as a result of the excessive production and accumulation of chemicals that produce porphyrin – a protein responsible for transporting oxygen in the bloodstream, essential for the production of hemoglobin .

Because of this, a series of enzymatic deficiencies occur in the production of a very important structure of hemoglobin , heme. Heme is formed from the binding between porphyrin and iron contained in the body.

Symptoms of Porphyria: Symptoms depend on the type of Porphyria . Severe abdominal pain is present in all types, as well as urine that is reddish brown in color. This is caused by the build-up of porphyrins, and usually occurs after an attack.

Symptoms Associated with Liver Disease Include:

Symptoms Associated with Erythropoietic Disease Include:

  • Extreme skin sensitivity  to light
  • Anemia (when the body does not produce enough new red blood cells)
  • Changes in skin pigmentation
  • Erratic behavior related to sun exposure

Causes of Porphyria:  Porphyria  is  a genetic disease. According to the Journal of Family Planning (JFP), most types of  Porphyria  are autosomal dominant, meaning that a person only inherits the abnormal gene from one parent. ( JFP, 2012 ) However, certain factors can trigger symptoms, known as “attacks”. Factors include:

  • drugs
  • Infection
  • alcohol use
  • Certain hormones, such as estrogen
  • Sun light

Porphyria Diagnoses: Many tests can help diagnose Porphyria .

Tests that Look for Physical Problems Include:

  • Computed tomography (CT)
  • chest X-ray
  • Echocardiogram (EKG)

Tests for Blood Problems Include:

Porphyria treatments:There is no cure for Porphyria . Treatment focuses on managing symptoms. Most cases are treated with medication.

Treatments for liver disease include:

  • Beta blockers (Atenolol) to control blood pressure
  • High-carbohydrate diet to aid recovery
  • Opioids for the treatment of pain
  • Hematin to shorten attacks

Treatments for Erythropoietic Disease Include:

  • Iron supplements for anemia
  • blood transfusions
  • Bone marrow transplant

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