Measurement of total porphyrins in urine is used for the evaluation of porphyrias, such as acute intermittent porphyria, hereditary coporphyria, and variegate porphyria, as well as congenital erythropoietic porphyria, and porphyria cutanea tarda.
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Quantitative measurements of porphobilinogen, total urinary porphyrins, and aminolevulinic acid may help determine the different forms of porphyria.
Porphyrins are a group of genetic disorders associated with deficiencies of various enzymes involved in either the synthesis of porphyrin or its metabolism. Porphyrins (uroporphyrins and coproporphyrins) and porphobilinogen are essential building blocks in heme synthesis. Heme is a constituent of the red blood cell hemoglobin. In most forms of porphyria, there are elevated levels of porphyrins and porphobilinogen in the urine. Porphyrias are typically classified as erythropoietic or hepatic based on the location of the defective enzyme. In addition, hepatic porphyria can be further classified as chronic or acute based on their clinical manifestations.
Acute hepatic porphyrias, i.e., acute intermittent porphyria, hereditary porphyria, and variegate porphyria, are associated with symptoms that usually begin in adolescence or later. Frequent symptoms include severe abdominal pain, peripheral neuropathy, and psychiatric symptoms. Many medications, alcohol, infections, hunger, heavy metals, and hormonal changes can cause seizures.
Possible Interpretations of Pathological Values
- Increase: Porphyria, liver disease, lead poisoning, pellagra
- Decrease: No clinical significance
Important Note
Laboratory test results are the most critical parameter for diagnosing and monitoring all pathological conditions. Between 70 to 80% of diagnostic decisions are based on laboratory tests. Correctly interpreting laboratory results allows a doctor to distinguish "healthy" from "diseased."
Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be analyzed based on each case and family history, clinical findings, and the results of other laboratory tests and information. Your physician should explain the importance of your test results.
At Diagnostiki Athinon, we answer any questions you may have about the test you perform in our laboratory and contact your doctor to ensure you receive the best possible medical care.
