RESUMEN
BACKGROUND & AIMS: Non-alcoholic steatohepatitis leading to fibrosis occurs in patients with abetalipoproteinemia (ABL) and homozygous or compound heterozygous familial hypobetalipoproteinemia (Ho-FHBL). We wanted to establish if liver alterations were more frequent in one of both diseases and were influenced by comorbidities. METHODS: We report genetic, clinical, histological and biological characteristics of new cases of ABL (n =7) and Ho-FHBL (n = 7), and compare them with all published ABL (51) and Ho-FHBL (22) probands. RESULTS: ABL patients, diagnosed during infancy, presented mainly with diarrhea, neurological and ophthalmological impairments and remained lean, whereas Ho-FHBL were diagnosed later, with milder symptoms often becoming overweight in adulthood. Despite subtle differences in lipid phenotype, liver steatosis was observed in both groups with a high prevalence of severe fibrosis (5/27 for Ho-FHBL vs. 4/58 for ABL (n.s.)). Serum triglycerides concentration was higher in Ho-FHBL whereas total and HDL-cholesterol were similar in both groups. In Ho-FHBL liver alterations were found to be independent from the apoB truncation size and apoB concentrations. CONCLUSIONS: Our findings provide evidence for major liver abnormalities in both diseases. While ABL and Ho-FHBL patients have subtle differences in lipid phenotype, carriers of APOB mutations are more frequently obese. These results raise the question of a complex causal link between apoB metabolism and obesity. They suggest that the genetic defect in VLDL assembly is critical for the occurrence of liver steatosis leading to fibrosis and shows that obesity and insulin resistance might contribute by increasing lipogenesis.
Asunto(s)
Abetalipoproteinemia , Apolipoproteína B-100/genética , Proteínas Portadoras/genética , Hipobetalipoproteinemias , Enfermedad del Hígado Graso no Alcohólico , Obesidad , Abetalipoproteinemia/sangre , Abetalipoproteinemia/diagnóstico , Abetalipoproteinemia/epidemiología , Abetalipoproteinemia/genética , Adolescente , Adulto , HDL-Colesterol/sangre , Estudios de Cohortes , Comorbilidad , Femenino , Francia/epidemiología , Humanos , Hipobetalipoproteinemias/sangre , Hipobetalipoproteinemias/diagnóstico , Hipobetalipoproteinemias/epidemiología , Hipobetalipoproteinemias/genética , Resistencia a la Insulina , Metabolismo de los Lípidos/genética , Hígado/metabolismo , Masculino , Enfermedad del Hígado Graso no Alcohólico/diagnóstico , Enfermedad del Hígado Graso no Alcohólico/epidemiología , Enfermedad del Hígado Graso no Alcohólico/etiología , Obesidad/epidemiología , Obesidad/genética , Prevalencia , Triglicéridos/sangreRESUMEN
Home parenteral nutrition (HPN) was introduced as a treatment modality in the early 1970s primarily for the treatment of chronic intestinal failure in patients with benign disease. The relatively low morbidity and mortality associated with HPN has encouraged its widespread use in western countries. Thus there is huge clinical experience, but there are still few controlled clinical studies of treatment effects and management of complications. The purpose of these guidelines is to highlight areas of good practice and promote the use of standardized treatment protocols between centers. The guidelines may serve as a framework for development of policies and procedures.