Clinical Chemistry
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Clinical Chemistry 45: 932-933, 1999;
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(Clinical Chemistry. 1999;45:932-933.)
© 1999 American Association for Clinical Chemistry, Inc.

Editorial

Porphyria Conundrum

Claus A. Pierach

Cecil Watson Laboratory, University of Minnesota, and, Abbott Northwestern Hospital, Minneapolis, MN 55407-3799
Address correspondence to: Abbott Northwestern Hospital, 800 East 28th St., Minneapolis, MN 55407-3799. Fax 612-863-4144; e-mail Claus.A.Pierach-2@tc.umn.edu.

Jan Waldenström spoke of porphyria as the "little imitator" (when syphilis was the great imitator). This caveat is still true today: The clinical presentation may vary widely and may encompass cutaneous and neurological signs and symptoms. Appropriate therapy requires as precise a diagnosis as possible. Although the clinical presentation might be telling, as, for example, in porphyria cutanea tarda, in which the skin changes are fairly typical, other porphyrias can overlap in their cutaneous and neurologic findings, at times urgently requiring a detailed and focused workup with the help of the laboratory. Simple screening tests can lead the way, but they must always be followed by more sophisticated analyses. Thus, the Watson-Schwartz test (1) for excessive amounts of urinary porphobilinogen, recently called "hoary" by this Journal's Editor (2), although still widely used in emergencies and favored for its easy execution with just a few test tubes and some reagents, must always lead to further detailed studies. A newer test, although slightly more complicated, is more sensitive (3).

Although the clinical presentation might be confusing in itself, so is the array of available laboratory studies for porphyria. It . . . [Full Text of this Article]


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Copyright © 1999 by the American Association for Clinical Chemistry.