Familial chylomicronemia syndrome: The first case reported in Ecuador. / Síndrome de quilomicronemia familiar: primer caso reportado en Ecuador.

Familial chylomicronemia syndrome (FCS) is a genetic entity with autosomal recessive inheritance. Mutations in genes (such as APOC2, APOAV, LMF-1, GPIHBP-1) that code for proteins that regulate the maturation, transport, or polymerization of lipoprotein lipase-1 are the most common causes, but not the only ones. The objective of this study was to report the first documented case in Ecuador. CLINICAL CASE: A 38-year-old man presented with chronic hepatosplenomegaly, thrombocytopenia, pancreatic atrophy, and severe hypertriglyceridemia refractory to treatment. A molecular analysis was performed by next generation sequencing that determined a deficiency of Lipoprotein Lipase OMIM #238600 in homozygosis. Genetic confirmation is necessary in order to establish the etiology of HTGS for an adequate management of this pathology.

Performance of pre-transplant criteria in prediction of hepatocellular carcinoma progression and waitlist dropout.

BACKGROUND & AIM: Liver transplantation (LT) selection models for hepatocellular carcinoma (HCC) have not been proposed to predict waitlist dropout because of tumour progression. The aim of this study was to compare the alpha-foetoprotein (AFP) model and other pre-LT models in their prediction of HCC dropout. METHODS: A multicentre cohort study was conducted in 20 Latin American transplant centres, including 994 listed patients for LT with HCC from 2012 to 2018. Longitudinal tumour characteristics, and patterns of progression were recorded at time of listing, after treatments and at last follow-up over the waitlist period. Competing risk regression models were performed, and model's discrimination was compared estimating Harrell's adapted c-statistics. RESULTS: HCC dropout rate was significantly higher in patients beyond (24% [95% CI 16-28]) compared to those within Milan criteria (8% [95% IC 5%-12%]; p < .0001), with a SHR of 3.01 [95% CI 2.03-4.47]), adjusted for waiting list time and bridging therapies (c-index 0.63 [95% CI 0.57; 0.69). HCC dropout rates were higher in patients with AFP scores >2 (adjusted SHR of 3.17 [CI 2.13-4.71]), c-index of 0.71 (95% CI 0.65-0.77; p = .09 vs Milan). Similar discrimination power for HCC dropout was observed between the AFP score and the Metroticket 2.0 model. In patients within Milan, an AFP score >2 points discriminated two populations with a higher risk of HCC dropout (SHR 1.68 [95% CI 1.08-2.61]). CONCLUSIONS: Pre-transplant selection models similarly predicted HCC dropout. However, the AFP model can discriminate a higher risk of dropout among patients within Milan criteria.

Liver transplantation for hepatocellular carcinoma: impact of expansion criteria in a multicenter cohort study from a high waitlist mortality region.

This study aimed to compare liver transplantation (LT) outcomes and evaluate the potential rise in numbers of LT candidates with hepatocellular carcinoma (HCC) of different allocation policies in a high waitlist mortality region. Three policies were applied in two Latin American cohorts (1085 HCC transplanted patients and 917 listed patients for HCC): (i) Milan criteria with expansion according to UCSF downstaging (UCSF-DS), (ii) the AFP score, and (iii) restrictive policy or Double Eligibility Criteria (DEC; within Milan + AFP score ≤2). Increase in HCC patient numbers was evaluated in an Argentinian prospective validation set (INCUCAI; NCT03775863). Expansion criteria in policy A showed that UCSF-DS [28.4% (CI 12.8-56.2)] or "all-comers" [32.9% (CI 11.9-71.3)] had higher 5-year recurrence rates compared to Milan, with 10.9% increase in HCC patients for LT. The policy B showed lower recurrence rates for AFP scores ≤2 points, even expanding beyond Milan criteria, with a 3.3% increase. Patients within DEC had lower 5-year recurrence rates compared with those beyond DEC [13.3% (CI 10.1-17.3) vs 24.2% (CI 17.4-33.1; P = 0.0006], without significant HCC expansion. In conclusion, although the application of a stricter policy may optimize the selection process, this restrictive policy may lead to ethical concerns in organ allocation (NCT03775863).

Recurrence of hepatocellular carcinoma after liver transplantation: Prognostic and predictive factors of survival in a Latin American cohort.

BACKGROUND & AIM: Recurrence of hepatocellular carcinoma (HCC) after liver transplantation (LT) has a poor prognosis, and the adjusted effect of different treatments on post-recurrence survival (PRS) has not been well defined. This study aims to evaluate prognostic and predictive variables associated with PRS. METHODS: This Latin American multicenter retrospective cohort study included HCC patients who underwent LT between the years 2005-2018. We evaluated the effect of baseline characteristics at time of HCC recurrence diagnosis and PRS (Cox regression analysis). Early recurrences were those occurring within 12 months of LT. To evaluate the adjusted treatment effect for HCC recurrence, a propensity score matching analysis was performed to assess the probability of having received any specific treatment for recurrence. RESULTS: From a total of 1085 transplanted HCC patients, the cumulative incidence of recurrence was 16.6% (CI 13.5-20.3), with median time to recurrence of 13.0 months (IQR 6.0-26.0). Factors independently associated with PRS were early recurrence (47.6%), treatment with sorafenib and surgery/trans-arterial chemoembolization (TACE). Patients who underwent any treatment presented "early recurrences" less frequently, and more extrahepatic metastasis. This unbalanced distribution was included in the propensity score matching, with correct calibration and discrimination (receiving operator curve of 0.81 [CI 0.72;0.88]). After matching, the adjusted effect on PRS for any treatment was HR of 0.2 (0.10;0.33); P < .0001, for sorafenib therapy HR of 0.4 (0.27;0.77); P = .003, and for surgery/TACE HR of 0.4 (0.18;0.78); P = .009. CONCLUSION: Although early recurrence was associated with worse outcome, even in this population, systemic or locoregional treatments were associated with better PRS.

Trasplante Hepático: Supervivencia global del receptor en el Hospital de Especialidades Carlos Andrade Marín / Liver Transplantation: Overall survival at the Carlos Andrade Marín Specialty Hospital

INTRODUCCIÓN. El primer trasplante hepático en el mundo se realizó en Estados Unidos en 1963 por Thomas Starzl, hasta la década de los 90 la supervivencia al año fue de 73% y a los 5 años de 64%, según diferentes series que abarcaron más de 1 000 trasplantes realizados hasta 1989. El Ecuador requiere de estas estadísticas. El Hospital de Especialidades Carlos Andrade Marín inició la actividad del programa en mayo del 2016. OBJETIVO. Conocer la supervivencia global de los pacientes sometidos a trasplante hepático. MATERIALES Y MÉTODOS. Estudio observacional, descriptivo, con una población igual a la muestra de 62 datos de Historias Clínicas del Programa de Trasplante Hepático en la Unidad Técnica de Trasplante del Hospital de Especialidades Carlos Andrade Marín en el período mayo 2016 a diciembre 2019. Criterios de inclusión: pacientes so-metidos a trasplante hepático, con seguimiento durante 43 meses. La información se obtuvo de la base de datos del sistema AS400; se analizaron en el programa estadístico International Business Machines Statistical Package for the Social Sciences, versión 23.0. RESULTADOS. La supervi-vencia global a los 12 meses fue 72% (17; 62) y a los 43 meses fue 69% (19; 62). DISCUSIÓN. Se evidenció similares resultados descritos de supervivencia en centros con actividad en periodos cortos, menor a 5 años. CONCLUSIÓN. Se pudo conocer la supervivencia global de los pacientes trasplantados del hospital, cuya expectativa motiva a potenciar el programa para mejorar la calidad de vida de los pacientes candidatos a trasplante.

INTRODUCTION. The first liver transplant in the world was performed in the United States in 1963 by Thomas Starzl, until the 90s the survival at one year was 73% and at 5 years it was 64%, accor-ding to different series that included more than 1 000 transplants carried out until 1989. Ecuador re-quires these statistics. The Carlos Andrade Marín Specialty Hospital began program activity in May 2016. OBJECTIVE. To know the overall survival of patients undergoing liver transplantation. MATE-RIALS AND METHODS. Observational, descriptive study, with a population equal to the sample of 62 data from the Medical Records of the Liver Transplant Program in the Technical Transplant Unit of the Carlos Andrade Marín Specialty Hospital in the period May 2016 to December 2019. Inclusion criteria: patients submitted to liver transplantation, with follow-up for 43 months. The information was obtained from the AS400 system database; were analyzed in the statistical program Internatio-nal Business Machines Statistical Package for the Social Sciences, version 23.0. RESULTS. Ove-rall survival at 12 months was 72% (17; 62) and at 43 months it was 69% (19; 62). DISCUSSION. Similar survival results described were evidenced in centers with activity in short periods, less than 5 years. CONCLUSION. It was possible to know the overall survival of the transplanted patients at the hospital, whose expectation motivates us to promote the program to improve the quality of life of the transplant candidates.

Direct-Acting Antivirals and Hepatocellular Carcinoma: No Evidence of Higher Wait-List Progression or Posttransplant Recurrence.

The association between direct-acting antivirals (DAAs) and hepatocellular carcinoma (HCC) wait-list progression or its recurrence following liver transplantation (LT) remains uncertain. We evaluated the impact of DAAs on HCC wait-list progression and post-LT recurrence. This Latin American multicenter retrospective cohort study included HCC patients listed for LT between 2012 and 2018. Patients were grouped according to etiology of liver disease: hepatitis C virus (HCV) negative, HCV+ never treated with DAAs, and HCV+ treated with DAAs either before or after transplantation. Multivariate competing risks models were conducted for both HCC wait-list progression adjusted by a propensity score matching (pre-LT DAA effect) and for post-LT HCC recurrence (pre- or post-LT DAA effect). From 994 included patients, 50.6% were HCV-, 32.9% were HCV+ never treated with DAAs, and 16.5% were HCV+ treated with DAAs either before (n = 66) or after LT (n = 98). Patients treated with DAAs before LT presented similar cumulative incidence of wait-list tumor progression when compared with those patients who were HCV+ without DAAs (26.2% versus 26.9%; P = 0.47) and a similar HCC-related dropout rate (12.1% [95% CI, 0.4%-8.1%] versus 12.9% [95% CI, 3.8%-27.2%]), adjusted for baseline tumor burden, alpha-fetoprotein values, HCC diagnosis after listing, bridging therapies, and by the probability of having received or not received DAAs through propensity score matching (subhazard ratio [SHR], 0.9; 95% CI, 0.6-1.6; P = 0.95). A lower incidence of posttransplant HCC recurrence among HCV+ patients who were treated with pre- or post-LT DAAs was observed (SHR, 0.7%; 95% CI, 0.2%-4.0%). However, this effect was confounded by the time to DAA initiation after LT. In conclusion, in this multicenter cohort, HCV treatment with DAAs did not appear to be associated with an increased wait-list tumor progression and HCC recurrence after LT.

Bowel obstruction due to the migration of the deflated intragastric balloon, a rare and potentially lethal complication.

Obesity is a worldwide epidemic that carries significant morbidity and mortality. There are many weight loss strategies available, yet to this date, none are risk-free. Intragastric balloons have been used for decades as a temporary measure for weight reduction and can be a useful approach for specific patients. Serious complications related to the device remain rare; however, prompt intervention is usually needed when they arise. We present the case of a 38-year-old female patient, she was using an intragastric balloon to treat her obesity. Regretfully, the balloon deflated causing intestinal migration and obstruction. After a successful surgery, the patient completely recovered.