Dual Porphyria of Coexisting Variegata and Cutanea Tarda

Abstract

Summary:While porphyria cutanea tarda and porphyria variegata are independent diseases, we report on seven rare cases with a coincidence of these two different porphyrias in one Individuum.The mutual clinical symptom was a cutaneous photosensitivity, which is a major symptom in porphyria cutanea tarda and a facultative one in porphyria variegata. Additionally, five patients had also experienced episodes of acute abdominal pain, which were in three cases accompanied by neurological symptoms, thus offering evidence for an acute hepatic porphyria, such as porphyria variegata.Determination of urinary porphyrin metabolites revealed a porphyria cutanea tarda-like excretion pattern with an elevation of uroporphyrin (mean 1134 nmol/24h, range 563-4052, normal < 30) and heptacarboxyporphyrin (mean 389 nmol/24h, range 64-830, normal ^4). In all patients, however, urinary coproporphyrin was also increased, reaching levels too high for porphyria cutanea tarda but typical for porphyria variegata (mean 1788 nmol/ 24 h, range 142-4168, normal ^ 120). Fecal porphyrin excretion also resembled the variegate-type with a high concentration especially of protoporphyrin (mean 628 nmol/g dry weight, range 401 -1018, normal ^ 151), accompanied by an increase of coproporphyrin (mean 194 nmol/g dry weight, range 75-409, normal < 37). The urinary porphyrin precursors 5-aminolaevulinic acid and porphobilinogen were markedly elevated only in one patient, who was in an acute porphyric phase at the time of investigation. The activity of uroporphyrinogen decarboxylase in erythrocytes was considerably decreased in six of our cases (33-64%) and slightly diminished in the other one (83% of normal activity).Those metabolic excretion profiles, supplemented by the cutanea tarda-associated uroporphyrinogen decarboxylase deficiency, reflect ari intermediate pattern with characteristics of both porphyria cutanea tarda and variegata, as was confirmed by comparison with 15 cases of porphyria variegata and 10 cases of porphyria cutanea tarda.

Variegate Porphyria

“…Variegate porphyria occurs worldwide, but the highest prevalence has been reported from South Africa (5). Handa et al (4) first reported a case of variegate porphyria from India in 1975, following which there have been no more reports of this rare metabolic disorder from the Indian subcontinent, although a few cases of dual porphyria of variegate and porphyria cutanea tarda were reported earlier (6). Lack of positive family history indicates sporadic occurrence of this rare genetic disorder in our patient.…”

Dual porphyrias revisited

“…In the dual porphyrias, laboratory tests indicate the simultaneous deficiency of two enzymes along the haeme biosynthetic pathway either in one individual or within one family. To date, approximately 15 patients and families with this constellation have been reported (18–33), indicating that these porphyria variants are very rare, although some authors already raised the question 20 years ago whether this peculiar form of porphyria is underdiagnosed (34).…”

Porphyria cutanea tarda

“…Especially the combination of PCT with acute intermittent porphyria (AIP) or PV has been described [6]. Both dual porphyrias show the typical porphyrin patterns and clinical aspects of each of the involved porphyrin disorders.…”