The porphyrin test is a spectroscopy test that is done to check for the levels of porphyrins in the body. This is one of the tests done to diagnose porphyria, a genetically acquired disease that can cause symptoms that can be fatal. The porphyrins test checks for the presence of porphobilinogen and other types of porphyrins in the body. The urine porphyrin test is usually the first test that can detect this. Porphyrin testing is unfortunately not performed as a first measure because it is a rare disease with symptoms that can mirror other conditions.
The elevated levels of porphyrins in the body indicate that a person is suffering from porphyria. This is a genetic disease and this means that all related members of the family must be tested for the problem as well. The disease can be acute, in which case the liver is usually the affected organ along with the nervous system. This can manifest in neurological problems like violent mood swings that mirror bipolar disorder. An attack of acute porphyria can also manifest in nausea, crippling pain, and shortness of breath due to muscle weakness. The cutaneous form of this disease causes photosensitivity, blisters, and red urine. A congenital form of this disease will cause the appearance of brown teeth.
Porphyria is a disease that is caused by the accumulation of porphyrins in the body. These are normal chemicals that exist in the body and are precursors to the production of heme, which is then used to form hemoglobin. The problem occurs when the genes responsible for production of certain enzymes omits or does not produce any one or more than one of the eight enzymes that are used in heme synthesis. The only way to manage this condition is to take medications that contain heme like Heme arginate. This will then reduce the amount of heme production required and reduce porphyrin buildup.
Porphyria affects the skin, nervous system, and the liver. It is a very severe disease that causes pain so severe that morphine is needed to quell the pain. If one has the disease then there are certain triggers that cause the symptoms. It is important to recognize these and get medical attention immediately. It is also a good idea to wear some kind of a marker on you that identifies you to a medical profession as a patient.