ABSTRACT
We report a case of a 19-year-old woman with acute liver failure, Coombs negative hemolytic anemia, and renal failure as initial manifestations of Wilson disease with recovery following medical treatment. The clinical picture and low serum transaminase and alkaline phosphatase levels gave us a clue to suspect Wilson disease and to initiate plasmapheresis and D-penicillamine soon after admission. The serum and urinary copper levels were elevated with low serum ceruloplasmin. We proceeded to ambulatory follow-up with medical treatment with D-penicillamine. A few months later, during the course of a laparoscopic cholecystectomy because of symptomatic gallstone disease, a liver biopsy sample was obtained that showed histological liver fibrosis and strongly elevated levels of liver tissue copper.
Subject(s)
Chelating Agents/therapeutic use , Hepatolenticular Degeneration/complications , Liver Failure, Acute/etiology , Liver Failure, Acute/therapy , Penicillamine/therapeutic use , Plasmapheresis , Adult , Anemia, Hemolytic/complications , Biopsy , Ceruloplasmin/analysis , Copper/blood , Copper/urine , Female , Follow-Up Studies , Hepatolenticular Degeneration/blood , Hepatolenticular Degeneration/diagnosis , Hepatolenticular Degeneration/pathology , Hepatolenticular Degeneration/urine , Humans , Liver/pathology , Liver Failure, Acute/drug therapy , Time FactorsABSTRACT
Instruments of health-related quality of life (HRQOL) help us to interpret the results of treatments and health interventions. In Spain there is no HRQOL instrument specifically designed for use in patients with liver disease or to measure the effect of interventions such as liver transplantation. The Liver Disease Quality of Life (LDQOL 1.0) questionnaire is an American instrument developed for use in these patients. The aim of this study was to produce an appropriate version of this questionnaire for use in Spain. Cultural adaptation was performed in 3 phases: a) modification for use in Spain of a Hispanic version of this questionnaire supplied by the original authors; b) back-translation to English of a new version of the questionnaire and comparison with the original version in English, and c) a pilot test in a small sample of patients. In the first phase consisting of revision of the Hispanic version, the changes were mainly linguistic due to cultural and idiomatic differences. The validated Spanish version of the SF-36 was directly incorporated and items that could be of interest to local investigators were added. Few changes were made in the second phase of the process: changes involved an item on the appearance of feces and another item on taking naps. In the final phase, various changes suggested by the patients were introduced. Before applying the new version of the LDQOL 1.0 in clinical studies in Spain, its psychometric properties (its reliability, validity and sensitivity to change) must be verified in a subsequent validation study.
Subject(s)
Liver Diseases/psychology , Quality of Life , Severity of Illness Index , Surveys and Questionnaires , Cross-Cultural Comparison , Cultural Characteristics , Humans , Language , Latin America , Patient Acceptance of Health Care , Pilot Projects , Reproducibility of Results , Sensitivity and Specificity , SpainABSTRACT
Exponemos el caso de una paciente de 19 años que ingresó en nuestro centro con insuficiencia hepática aguda grave, anemia hemolítica Coomb´s negativa e insuficiencia renal. La clínica y los niveles séricos bajos de transaminasas y fosfatasa alcalina nos hicieron sospechar enfermedad de Wilson e iniciar plasmaféresis y D-penicilamina de forma precoz, a los 2 y 5 días respectivamente, con buena evolución posterior. Los niveles de cobre en sangre y orina resultaron ser elevados con niveles bajos de ceruloplasmina sérica. Se procedió a un seguimiento ambulatorio con tratamiento de mantenimiento con D-penicilamina, realizádose una biopsia hepática que demostró fibrosis en el examen anátomo-patológico y una concentración elevada de cobre en tejido hepático seco.En conclusión, en este caso de insuficiencia hepática aguda con hemolisis severa como forma de presentación de la enfermedad de Wilson, la instauración precoz de sesiones de plamaféresis y tratamiento con D-penicilamina fueron medidas eficaces con supervivencia sin necesidad de trasplante hepático ortotópico (AU)
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