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Serum ferritin, an index of iron stores, was studied in 60 patients with porphyria cutanea tarda (PCT), in 21 patients who had other liver diseases without siderosis (cirrhosis [LC] and chronic active hepatitis [CAH]), and in 32 patients with associated liver siderosis (alcoholic LC, LC and CAH in minor thalassemia). Ferritin levels were higher in patients with porphyria than in healthy controls and patients without liver siderosis (P less than 0.001), whereas no statistical difference was observed between patients with porphyria and those with liver siderosis. Because iron removal is considered the treatment of choice for PCT, some patients with PCT underwent phlebotomy and others received chelating therapy with subcutaneous infusion of deferoxamine. Follow-up of the patients showed a correlation between serum ferritin level and urinary porphyrin excretion; when the clinical and biochemical syndrome became normal, serum iron and ferritin had fallen to normal values (t test pair data analysis before and after: P less than 0.001 in each group). No appreciable difference was found between controls and patients with PCT whose conditions had been normalized, irrespective of the chronic liver damage always present in PCT. Our results suggest that serum ferritin increase in PCT is related more to liver iron overload than to liver damage, and ferritin follow-up is recommended to indicate the exhaustion of hepatic iron stores during iron depletion therapy, as well as to detect an early replenishment after remission.

Serum markers of hepatitis B virus (HBV) infection were determined in 82 patients with porphyria cutanea tarda (PCT). Pathogenetic factors (alcohol, thalassemia minor, drugs) and clinical and histologic findings of PCT were taken into account. The prevalence of HBV infection was very high (70.7%). Hepatitis B surface antigen (HBsAg) was positive in 14 patients (17%). Eight patients had HBV infection as the only documented acquired factor. The clinical picture and histologic findings were aggravated by HBV infection; primary hepatic carcinoma occurred in four patients with HBV infection. Liver siderosis was histologically documented in 82.6% of cases, serum ferritin was pathologically increased in 91%, confirming the role of iron overload in PCT. A correlation (p less than 0.02; chi-squared method) was found between increased serum ferritin levels and HBV infection, suggesting a possible relationship between liver siderosis and HBV clearance. HBV infection appears to be a relevant additional factor in the pathogenesis of PCT liver disease.

Hepatic encephalopathy may complicate chronic liver diseases and portosystemic shunting. Recently it has been suggested that a change in the blood amino acid pattern (with elevated phenylalanine, tyrosine, methionine and depressed branched chain amino acids) and increased levels of octopamine and phenylethanolamine (a false neurotransmitter) are related causally to neurological symptoms. Previous works have suggested that an amino acid mixture of special formulation (enriched in branched chain amino acids and poor in aromatic amino acids) can normalize the plasma amino acid levels and consequently improve the neurological state. In order to test the actual therapeutic effect of these specially formulated solutions, the following therapeutic protocols were administered to 3 groups of cirrhotic patients: group 1 (15 cases): lactulose; group 2 (8 cases): special amino acid solutions; group 3 (8 cases): special amino acid solutions and lactulose. Clinical, laboratory and EEG examinations in a preliminary experiment, before and after treatment, showed that the best effect was obtained by the combined treatment with amino acid solutions and lactulose.

A group of 48 patients (42 suffering from hepato-biliary diseases and 6 without hepatic diseases) was followed by the authors for a period lasting from 5 to 8 years, 13 out of them for longer. The hepatic disease was assessed on the basis of physical examination, current liver chemistry and proper and specific instrumental procedures. Initial and final diagnosis and the aminotransferases (AST, ALT) trend in years were carefully considered. First of all it was concluded that no advantage is obtained in monitoring the two aminotransferases instead of one alone. Moreover it is stressed the opportunity of referring aminotransferases activities in a simple way such as per cent of variation as referred to considered upper normal value differing from one to the other laboratory. The aminotransferase increase maintains an important and diagnostic significance in acute liver damage such as in acute hepatitis. An inappreciable prognostic value may be drawn from the follow up of these enzymatic parameters: for example the development of posthepatic fibrosis, or cirrhosis or hepatoma cannot be foreseen on the basis of the aminotransferases trend. A greater variability and sharp increases in AST-ALT values are recorded in patients with biliary gallstones.

The authors present the results of long-term subcutaneous desferrioxamine (DFX) infusion in 16 porphyria cutanea tarda (PCT) patients who cannot undergo repeated phlebotomies because of severe liver damage, haemolytic anemia, cardiovascular impairment or pulmonary and bone tuberculosis. They employed an automatic, portable syringe pump for subcutaneous infusion (8-10 h) to overcome the short half-life of the drug. Photodynamic cutaneous lesions and hyperpigmentation quickly disappeared (2-3 months). Uroporphyrin excretion sharply decreased and normalized within 3-12 months. Also, serum iron and ferritin, as well as liver function, showed a significant improvement. The authors therefore propose subcutaneous DFX therapy in PCT treatment when phlebotomy is contraindicated.