Test ID: PPP
Porphyrins Profile
Useful For 
Suggests clinical disorders or settings where the test may be helpful
Differential diagnosis of porphyrias
Determining whether skin problems are related to an accumulation of porphyrins (renal failure porphyria, porphyria cutanea tarda, congenital erythropoietic porphyria, and erythropoietic protoporphyria) or some other problem
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Plasma specimens from patients with active porphyria cutanea tarda (PCT), congenital erythropoietic porphyria (CEP), and erythropoietic protoporphyria (EPP).may exhibit increased plasma porphyrin levels. However, a definitive diagnosis cannot be made by plasma analysis alone. Porphyrins in plasma are extremely sensitive to light and may degrade to normal levels if not handled properly. Send specimen frozen in amber vial (Supply T192) to protect from light.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
The porphyrias are a diverse group of disorders caused by defects in the biosynthesis of heme and characterized by accumulations of porphyrinogens and porphyrins in plasma, RBCs, tissues, urine, and/or feces.
Plasma porphyrin concentrations are usually increased in association with porphyria cutanea tarda (PCT), congenital erythropoietic porphyria, and erythropoietic protoporphyria. Occasionally, plasma porphyrins may also be elevated during acute episodes of acute intermittent porphyria, hereditary coproporphyria, or variegate porphyria. Therefore, evaluation of the plasma porphyrins may be helpful in establishing a diagnosis of porphyria.
In addition, persons with chronic renal failure may develop a bullous dermatosis similar to that associated with PCT and may have increased plasma porphyrins.
See The Heme Biosynthetic Pathway, Porphyria (Acute) Testing Algorithm, and Porphyria (Cutaneous) Testing Algorithm in Special Instructions.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
PORPHYRINS, TOTAL
< or =1.0 mcg/dL
UROPORPHYRINS (octacarboxyl)
< or =1.0 mcg/dL
HEPTACARBOXYLPORPHYRINS
< or =1.0 mcg/dL
HEXACARBOXYLPORPHYRINS
< or =1.0 mcg/dL
PENTACARBOXYLPORPHYRINS
< or =1.0 mcg/dL
COPROPORPHYRINS (tetracarboxyl)
< or =1.0 mcg/dL
PROTOPORPHYRINS
< or =1.0 mcg/dL
See The Heme Biosynthetic Pathway in Special Instructions.
Interpretation Provides information to assist in interpretation of the test results
A mild elevation of total plasma porphyrins is an expression of a primary (eg, active porphyria cutanea tarda, congenital erythropoietic porphyria, erythropoietic protoporphyria, variegate porphyria, or hereditary coproporphyria) or secondary defect in the biosynthesis of heme. However, the specific type of porphyria cannot be determined by total plasma porphyrin analysis alone.
| Porphyria | Biochemical abnormalities |
| Acute intermittent porphyria | Typically normal. May see increased uroporphyrin. |
| Congenital erythropoietic porphyria | Increased uroporphyrin and coproporphyrin: if isomers performed, series I isomers. |
| Porphyria cutanea tarda | Increased uroporphyrin and heptacarboxyl porphyrin with lesser increases of hexa-, penta- and coproporphyrin. |
| Hereditary coproporphyria | Typically normal. May see increased coproporphyrin. |
| Variegate porphyria | Typically normal. May see increased coproporphyrin and/or protoporphyrin with other dicarboxyl peaks. |
| Erythropoietic protoporphyria | Increased protoporphyrin. |
A written interpretation is included with all abnormal results. When abnormal results are detected, a detailed interpretation is provided, which may include:
-An overview of the results and of their significance
-Elements of differential diagnosis
-Recommendations for additional biochemical testing (ie, enzyme assays)
-Phone number to reach one of the laboratory directors in case the referring physician has additional questions
See The Heme Biosynthetic Pathway in Special Instructions for additional information.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Porphyrins degrade with exposure to light. It is essential to maintain light protection once plasma is obtained.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Hindmarsh JT, Oliveras L, Greenway DC: Plasma porphyrins in the porphyrias. Clin Chem 1999;45:1070-1076
2. Ellefson RD: Porphyrinogens, porphyrins, and the porphyrias. Mayo Clin Proc 1982;57:454-458
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