DUAL PORPHYRIA OF COEXISTING VARIEGATA AND CUTANEA-TARDA

While porphyria cutanea tarda and porphyria variegata are independent diseases, we report on seven rare cases with a coincidence of these tw o different porphyrias in one individuum. The mutual clinical symptom was a cutaneous photosensitivity, which is a major symptom in porphyri a cutanea tarda and a facultative one in porphyria variegata. Addition ally, five patients had also experienced episodes of acute abdominal p ain, which were in three cases accompanied by neurological symptoms, t hus offering evidence for an acute hepatic porphyria, such as porphyri a variegata.Determination of urinary porphyrin metabolites revealed a porphyria cutanea tarda-like excretion pattern with an elevation of ur oporphyrin (mean 1134 nmol/24 h, range 563-4052, normal less than or e qual to 30) and heptacarboxyporphyrin (mean 389 nmol/24 h, range 64-83 0, normal less than or equal to 4). In all patients, however, urinary coproporphyrin was also increased, reaching levels too high for porphy ria cutanea tarda but typical for porphyria variegata (mean 1788 nmol/ 24 h, range 142-4168, normal less than or equal to 120). Fecal porphy rin excretion also resembled the variegate-type with a high concentrat ion especially of protoporphyrin (mean 628 nmol/g dry weight, range 40 1-1018, normal less than or equal to 151), accompanied by an increase of coproporphyrin (mean 194 nmol/g dry weight, range 75-409, normal le ss than or equal to 37). The urinary porphyrin precursors 5-aminolaevu linic acid and porphobilinogen were markedly elevated only in one pati ent, who was in an acute porphyric phase at the time of investigation. The activity of uroporphyrinogen decarboxylase in erythrocytes was co nsiderably decreased in six of our cases (33-64%) and slightly diminis hed in the other one (83% of normal activity). Those metabolic excreti on profiles, supplemented by the cutanea tarda-associated uroporphyrin ogen decarboxylase deficiency, reflect an intermediate pattern with ch aracteristics of both porphyria cutanea tarda and variegata, as was co nfirmed by comparison with 15 cases of porphyria variegata and IO case s of porphyria cutanea tarda.