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Porphyria cutanea tarda (PCX) is characterized by cutaneous symptoms in association with hepatic accumulation and urinary excretion of mainly uro- and heptacarboxyporphyrins. 24 PCX patients excreting urinary porphyrins between 1.9 and 5.8 µmol/24 h (normal < 0.2) were treated with chloroquine at a dose of 125 mg twice a week. During the first phase of therapy urinary porphyrin excretion transiently increased 1.1- to 2.9-fold indicating a phase of mobilization. A slight initial elevation was also found regarding the activities of serum amino-transferases reflecting the hepatotoxic effect of chloroquine. Xhe clinical symptoms disappeared after a period ranging from 2 to 6 months, and after an average of 12 months the porphyrin excretion in all patients had returned to nearly normal values.

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.

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Alcohol has an porphyrinogenic action and can cause a disturbance of porphyrin metabolism in healthy people as well as lead to a biochemical and clinical manifestation of acute and chronic hepatic porphyrias, especially acute intermittent porphyria and porphyria cutanea tarda. After excessive consumption of alcohol a temporary, clinically asymptomatic secondary hepatic coproporphyrinuria in man can be observed, which can become persistent in cases of alcohol-induced liver damage. Nowadays alcohol-liver-porphyrinuria syndrome is the first to be mentioned in secondary hepatic disturbances of porphyrin metabolism. In people with a genetic lack of uroporphyrinogen-decarboxylase alcohol is able to transform an asymptomatic coproporphyrinuria into a chronic hepatic porphyria or porphyria cutanea tarda. From experimental and clinical studies the conclusion can be drawn that alcohol inhibits the enzymes delta-aminolevulinic-acid-dehydratase (synonym: porphobilinogen-synthase), uroporphyrinogen-decarboxylase and coproporphyrinogen-oxidase and induces delta-aminolevulinic-acid-synthase in the liver. Abstinence of alcohol is a therapeutically and prophylactically important measurement in all types of hepatic porphyrias. For clinical experience follows that in cases with chronic consumption of alcohol, fatty liver, alcohol induced hepatitis and liver cirrhosis porphyrin studies in urine should be made to notice a hepatic porphyria in the latent phase very early. When dealing with abdominal and cutaneous symptoms in clinical context with consumption of alcohol one has to exclude hepatic porphyria differential diagnostically.