ABSTRACT
Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the List of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly. LAL-D should be suspected in patients with hepatomegaly, hyperlipidemia and /or elevated transaminases found during routine checks or testing for other conditions, and in patients with cryptogenic cirrhosis. At present, there is the option of a specific enzyme replacement treatment.
La deficiencia de lipasa ácida lisosomal es una enfermedad genética aún poco reconocida, con significativa morbimortalidad en niños y en adultos. Esta guía orienta sobre cuándo sospechar la enfermedady cómo diagnosticarla. Serecomienda agregar la deficiencia de lipasa ácida lisosomal a la lista de diagnósticos diferenciales de las sepsis, enfermedades oncológicas, enfermedades de depósito, diarrea prolongada y desnutrición crónica y linfohistiocitosis hemofagocítica. Asimismo, se sugiere considerarla en pacientes jóvenes con dislipemia y arterioesclerosis y en enfermedades que ocurran con hígado graso y/o hepatomegalia. La hepatomegalia, hiperlipidemia y/o elevación de las transaminasas en ocasión de controles de rutina o de otras afecciones deberían hacer sospechar la deficiencia de lipasa ácida lisosomal, al igual que en pacientes con cirrosis criptogénica. Hoy existe la opción de un tratamiento de remplazo enzimático específico.
Subject(s)
Wolman Disease/diagnosis , Wolman Disease/therapy , Adolescent , Adult , Child , Child, Preschool , Dyslipidemias/etiology , Humans , Infant , Infant, Newborn , Liver Diseases/etiology , Wolman Disease/complications , Wolman DiseaseABSTRACT
OBJECTIVES: To evaluate the effectiveness of cyclosporine in inducing and maintaining remission of the inflammatory process in autoimmune hepatitis, when used in combination with low doses of prednisone and azathioprine and to identify the prognostic factors associated with sustained remission. METHODS: Eighty-four patients with autoimmune hepatitis were consecutively recruited from 5 centers between January 1994 and March 2001. Cyclosporine was administered during the first 6 months. Thereafter, in patients with aminotransferase levels of lower than twice the normal values, prednisone and azathioprine were initiated. RESULTS: Normal aminotransferase levels were observed in 94.05% (79/84) of the patients, 72% of them within the first 6 months of treatment. Total serum bilirubin level of greater than 1.2 mg/dL and portal hypertension at diagnosis jointly predicted a significant delay in remission. Adverse effects related to cyclosporine remained mild and transient. Low doses of prednisone and standard doses of azathioprine were not implicated in relapse of the disease during the follow-up of any patient. CONCLUSIONS: This protocol allowed control of the liver inflammatory process and was well tolerated. The response to this immunosuppressive therapy can be predicted with accuracy. Factors delaying remission can be identified early at diagnosis and may contribute to the development of more effective treatment policies for this condition.