Acute Porphyrias: A Case Report and Review

As befits a hematologic class of disorders, the word “porphyria ” derives from the Greek word porphuros, which means red or purple (1). The porphyrias (Table 1 and Table 2) are a group of rare metabolic disorders arising from re-duced activity of any of the enzymes in the heme biosyn-thetic pathway. The disorders may be either acquired (for instance, through a toxin acting on one of the enzymes) or inherited through a genetic defect in a gene encoding these enzymes. These deficiencies disrupt normal heme production, with symp-toms especially prominent when in-creased heme is required. Porphyrin pre-cursors, overproduced in response to synthetic pathway blockages, accumu-late in the body (1–31), cause diverse