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Clinical Chemistry 45: 1070-1076, 1999;
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(Clinical Chemistry. 1999;45:1070-1076.)
© 1999 American Association for Clinical Chemistry, Inc.

Articles

Plasma Porphyrins in the Porphyrias

J. Thomas Hindmarsha, Linda Oliveras and Donald C. Greenway

Division of Biochemistry, Ottawa Hospital, General Campus, 501 Smyth Rd., Ottawa, Ontario, Canada K1H 8L6.
a Author for correspondence. Fax 613 737 8315; e-mail jhindmarsh{at}ogh.on.ca

Background: As an aid in the diagnosis and management of porphyria we have developed a method to fractionate and quantify plasma porphyrins and have evaluated its use in various porphyrias.

Methods: We used HPLC with fluorometric detection to measure plasma concentrations of uroporphyrin I and III, heptacarboxyl III, hexacarboxyl III, pentacarboxyl III, and coproporphyrin I and III. We studied 245 healthy subjects, 32 patients with classical porphyria cutanea tarda (PCT), 12 patients with PCT of renal failure, 13 patients with renal failure, 8 patients with pseudoporphyria of renal failure, 3 patients with acute intermittent porphyria, 5 patients with variegate porphyria, 5 patients with hereditary coproporphyria, and 4 patients with erythropoietic protoporphyria.

Results: Between-run CVs were 5.4–13%. The recoveries of porphyrins added to plasma were 71–114% except for protoporphyrin, which could not be reliably measured with this technique. Plasma porphyrin patterns clearly identified PCT, and its clinical sensitivity equaled that of urine porphyrin fractionation. The patterns also allowed differentiation of PCT of renal failure from pseudoporphyria of renal failure.

Conclusions: The assay of plasma porphyrins identifies patients with PCT and appears particularly useful for differentiating PCT of renal failure from pseudoporphyria of renal failure.© 1999 American Association for Clinical Chemistry




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ACP Best Practice No 165: Front line tests for the investigation of suspected porphyria
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