Porphyrias diagnosed types by HPLC analysis: 10 years of Siriraj experience.

ABSTRACT

Objective: This study aims to report the HPLC patterns of urine porphyrin intermediates from Thai patients with various types of porphyrias in supporting the clinical diagnosis. Methods: A reverse phase HPLC method using kit reagents, was used to measure porphyrin intermediates in the urine of control subjects and patients with various types of porphyrias. Results: 22 control subjects showed very low levels of all urine porphyrin intermediates whereas 11 porphyriatic patients had increases of some specific isomers varying among each type of the disease. The results from 6 porphyria cutanea tarda (PCT) patients marked increase of uroporphyrin and slight increase of the other porphyrin intermediates, 2 congenital erythropoietic porphyria (CEP), high elevation of uroporphyrin and coproporphyrin I – III ratio with slight increase of pentaporphyrin, 2 variegate porphyria (VP), marked increase of only coproporphyrin III and 1 acute intermittent porphyria (AIP) (non acute form), high increase of coproporphyrinIII with mild increase of ALA, PBG, uroporphyrin, and coproporphyrin I. Conclusion: The HPLC could provide data essential for differentiating common types of porphyrias in Thai patients, PCT, CEP, VP and AIP. Clinical findings of the patients and urine screening test for increased porphyrins were also helpful for the definite diagnosis.