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[Aim] to assess the prevalence of non-alcoholic fatty liver disease (NAFLD) in the gastroenterology outpatient clinic and describe the use of the resources accordingly. Methods: a prospective and observational study of 403 patients seen in the gastroenterology outpatient clinic to rule out liver disease during three randomized months in 2016. The overall prevalence of NAFLD, disease severity, heterogeneity of the final diagnosis, the use of medical resources and their respective cost were analyzed., [Results] the main reason for consultation was hypertransaminasemia (42.9%, 173/403), followed by hepatitis C virus (HCV) (28.5%, 115/403). NAFLD was identified as the definitive diagnosis in 29.8% (120/403) of the cohort, 69.2% (83/120) derived by hypertransaminasemia and 24.2% (29/120) by steatosis. Laboratory tests were performed in 96.7% (116/120), abdominal ultrasound in 88.3% (106/120), viral serology in 79.2% (95/120) and autoimmunity in 70% (84/120) of patients with NAFLD. Liver fibrosis was not assessed in 87.5% of cases. In a post-hoc analysis, 12.1% (17/120) had advanced fibrosis by FIB-4. On ultrasound, 65% (73/106) had hepatic steatosis and 15% (17/106) chronic liver disease (significant fibrosis). The mean time for diagnosis was 2.23 ± 0.8 visits. The terminology used to define the clinical diagnosis was heterogeneous as follows: a) 48.3% (58/120) hepatic steatosis; b) 15% (18/120) non-alcoholic steatohepatitis; c) 15.8% (19/120) fatty liver; d) 13.3% (16/120) metabolic syndrome; and e) 7.5% (9/120) dual liver disease (fatty liver and alcohol). A pharmacological intervention was performed in six patients, a liver biopsy in two patients and another six were referred to another specialist. The average cost per patient until diagnosis was €570.78, which included analytical, autoantibodies, viral serology and abdominal ultrasound, with a mean of 2.5 consultations. Thus, the total expense in patients with NAFLD was €68,493.6., [Conclusion] NAFLD is a frequent cause of hypertransaminasemia. However, the heterogeneity in the management and terminology of the disease makes it necessary to initiate medical training actions in order to unify the criteria for disease control.

El síndrome LPAC (low-phospholipid-associated cholelithiasis syndrome) está asociado a mutaciones del gen ABCB4, que codifica la proteína MDR3, esencial en la secreción de fosfatidilcolina en las sales biliares. Este síndrome se caracteriza por una mayor prevalencia en mujeres, síntomas biliares en adultos jóvenes y excelente respuesta al ácido ursodesoxicólico (AUDC). Presentamos el caso de un hombre de 48 años con hepatitis C, genotipo 1b, fibrosis F3, nula respuesta Peg-IFN-α-2b/ribavirina y cólicos nefríticos de repetición. En 2011 desarrolló ictericia, prurito y dolor cólico epigástrico acompañado de aumento sérico de AST, ALT, GGT, bilirrubina y alfafetoproteína, y carga viral (14.600.000 UI/ml). La endoscopia oral, la ecoendoscopia, la angio-TAC y la ecografía-doppler evidenciaron hepatopatía crónica no cirrótica. El cuadro se autolimitó y un año después sufrió un episodio similar. Iniciamos tratamiento con AUDC, con excelente respuesta clínica. El estudio inmunohistoquímico y la secuenciación completa del gen ABCB4 no mostraron alteraciones. La técnica MLPA® detectó deleción heterocigota del exón 4 completo y confirmó la sospecha de síndrome LPAC. Low-phospholipid-associated cholelithiasis syndrome (LPAC) is associated with ABCB4 genetic mutation. ABCB4 encodes MDR3 protein, involved in biliary phosphatidylcholine excretion. Higher prevalence in women, biliary symptoms in young adults and ursodesoxycholic acid (UDCA) response are the main features. We report the case of a 48-year-old man with hepatitis C, genotype 1b, fibrosis F3, null responder to Peg-IFNα2b/ribavirin and nephritic colic. In 2011 he developed jaundice, pruritus and epigastric pain. He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14,600,000IU/mL). Pancreatic CT, endoscopic ultrasonography and echo-Doppler showed non cirrhotic chronic liver disease. The episode resolved spontaneously and one year later he suffered a similar episode. UDCA was started with excellent response. An immunohistochemistry study and sequencing of ABCB4 did not find alteration. MLPA® technique detected heterozygous deletion of the full exon 4 confirming LPAC syndrome diagnosis.

El síndrome LPAC (low-phospholipid-associated cholelithiasis syndrome) está asociado a mutaciones del gen ABCB4, que codifica la proteína MDR3, esencial en la secreción de fosfatidilcolina en las sales biliares. Este síndrome se caracteriza por una mayor prevalencia en mujeres, síntomas biliares en adultos jóvenes y excelente respuesta al ácido ursodesoxicólico (AUDC). Presentamos el caso de un hombre de 48 años con hepatitis C, genotipo 1b, fibrosis F3, nula respuesta Peg-IFN-α-2b/ribavirina y cólicos nefríticos de repetición. En 2011 desarrolló ictericia, prurito y dolor cólico epigástrico acompañado de aumento sérico de AST, ALT, GGT, bilirrubina y alfafetoproteína, y carga viral (14.600.000 UI/ml). La endoscopia oral, la ecoendoscopia, la angio-TAC y la ecografía-doppler evidenciaron hepatopatía crónica no cirrótica. El cuadro se autolimitó y un año después sufrió un episodio similar. Iniciamos tratamiento con AUDC, con excelente respuesta clínica. El estudio inmunohistoquímico y la secuenciación completa del gen ABCB4 no mostraron alteraciones. La técnica MLPA® detectó deleción heterocigota del exón 4 completo y confirmó la sospecha de síndrome LPAC. Low-phospholipid-associated cholelithiasis syndrome (LPAC) is associated with ABCB4 genetic mutation. ABCB4 encodes MDR3 protein, involved in biliary phosphatidylcholine excretion. Higher prevalence in women, biliary symptoms in young adults and ursodesoxycholic acid (UDCA) response are the main features. We report the case of a 48-year-old man with hepatitis C, genotype 1b, fibrosis F3, null responder to Peg-IFNα2b/ribavirin and nephritic colic. In 2011 he developed jaundice, pruritus and epigastric pain. He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14,600,000IU/mL). Pancreatic CT, endoscopic ultrasonography and echo-Doppler showed non cirrhotic chronic liver disease. The episode resolved spontaneously and one year later he suffered a similar episode. UDCA was started with excellent response. An immunohistochemistry study and sequencing of ABCB4 did not find alteration. MLPA® technique detected heterozygous deletion of the full exon 4 confirming LPAC syndrome diagnosis.