Wilson's disease: clinical presentation and use of prognostic index.

Abstract

SUMMARY As the results of treatment in Wilson's disease are so dependent on the stage at which penicillamine therapy is started, the antecedant history in 34 patients with Wilson's disease was analysed with particular respect to the earliest manifestations of the disease. Lethargy and anorexia (70%) jaundice (56%) and abdominal pain (48%) were the commonest symptoms and less common were intellectual deterioration (22%) and recurrent epistaxes (22%). The duration of symptoms before diagnosis ranged from five days to three years (mean 10O5 months) and in only five of the patients was the diagnosis established before referral. Analysis of the physical signs at presentation showed hepatomegaly (81%) and splenomegaly (70%) to be common and the only signs which were significantly more common in the 13 fatal cases were jaundice and ascites. In three of these and in one other patient who survived the clinical course was exceptionally severe and was indistinguishable from fulminant hepatic failure. Based on the severity of abnormality of serum aspartate aminotransferase, bilirubin, and prothrombin time on admission a prognostic index was derived which enabled complete separation of fatal and nonfatal cases and when subsequently used in a further nine index cases correctly predicted the outcome. Two further cases found to have indices in the fatal category did well after liver transplantation, which needs to be considered as soon as the diagnosis is established in cases with such severe liver damage.

Diagnostic criteria for acute liver failure due to Wilson disease

“…Nazer et al [9] have proposed a prognostic score for identification of patients with FWD who will not survive without liver transplantation (score ≥ 7). In our series only one FWD patient surviving without liver transplantation had a Nazerscore of 7, the other patients had lower scores.…”

“…For patients with FWD the prognostic score developed by Nazer et al [9] was calculated. Seven patients with FWD were analyzed.…”

“…Three patients with FWD underwent successful liver transplantation. Two of the three FWD patients with liver transplantation had a prognostic index ≥ 7 based on the score developed by Nazer et al [9] . All but one FWD patient surviving without liver transplantation had a score ≤ 7 (Table 1).…”

Acute Liver Failure

“…14 Metabolic diseases of liver, namely, Wilson's disease and autoimmune chronic active hepatitis, need specific therapies. [3][4][5]48 Hepatic venous outflow obstruction (Budd-Chiari syndrome) responds well to anticoagulation and urgent portacaval shunts performed at surgery, or through creation of a transjugular intrahepatic portosystemic shunt.…”

Importância da detecção de mutações do gene ATP7B para o diagnóstico da doença de Wilson

“…Indivíduos heterozigotos e assintomáticos com DW podem apresentar valores intermediários (Medici et al, 2007;Roberts & Schilsky, 2008 O cobre urinário, assim como a ceruloplasmina, pode ser normal em infantes com DW (Werlin et al, 1978;Nazer et al, 1986). Para aumentar a acurácia diagnóstica dessa população, foi proposto o teste desafio com a dpenicilamina (DPA), em que 500 mg de d-penicilamina são administrados com intervalo de 12 horas, com coleta de urina por 24 h, a partir da primeira dose.…”