Saturday, January 15, 2011

What Is The Rare Genetic Disease Called Porphyria?

Porphyria is a group of 8 different genetic disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is an important molecule for all of the body's organs. It is found mostly in the blood, bone marrow, and liver.

They are 8 different genetic types of Porphyria: (AIP) Acute Intermittent Porphyria, (CEP) Congenital Erythropoietic Porphyria, (PCT) Porphyria Cutanea Tarda, (ADP) ALAD Porphyria, (HEP) Hepatoerythopoietic Porphyria, (HCP) Hereditary Coproporphyria, (VP) Variegate Porphyria, and (EPP) Erythropoietic Protoporphyria.

In addition to the genetic forms, some causes of this disorder are caused by non-genetic factors such as infections or exposure to unsafe prescription, and non-prescription medications.

Porphyrins are found at normal levels in every human body. When that level increases, beyond normal limits, it can cause a variety of symptoms. The symptoms are varied, depending on which type of Porphryia a patient has.

Symptoms can include, but are not limited to: urine color changes, abdominal pain, muscle cramps, seizures, hallucinations, anxiety, fever, skin blisters, sun sensitivity, vomiting, nausea, constipation, and high blood pressure.

How To Diagnose Porphyria

According to the medical professionals that I have spoken to, Porphyria can be difficult to diagnose. A Physician will usually order a laboratory test on the patients urine. The most common test for an Acute Porphyria is a (PBG) Porphobilinogen and (ALA) Aminolevulinic Acid, 24 hour urine test. Fecal porphyrins may be ordered to help distinguish between (VP) Variegate Porphyria and (HCP) Hereditary Coproporphyria.

For the Cutaneous Porphyrias, blood and urine porphyrins are the most frequently ordered tests.

Testing should be performed by a properly accredited laboratory who has experience in running these type of tests.

Treatment For Porphyria

Treatment will vary according to the type of Porphyria a patient has been diagnosed with. You will want to seek out a specialist in the field of neurology or hematology.

For treatment options regarding all types of Porphyria, I recommend visiting the American Porphyria Foundation's Website.

This article is not a substitution for medical care. Please contact your Physician for additional information.
Article Written By: Shelly H.

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