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 .
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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:
- Pain in limbs
- neuropathy
- Hypertension
- Tachycardia (rapid heartbeat)
- electrolyte imbalance
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:
- Urine test for fluorescence
- Porphobilinogenic urine test (PBG)
- Complete blood count (CBC)
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
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Treatments for Erythropoietic Disease Include: