ABSTRACT
Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic disorders caused by defects in biliary epithelial transporters. It mostly presents as low γ-glutamyltransferase cholestasis. Recently, USP53 has been identified as one of the novel genes associated with PFIC. Herein, we report a 21-year-old Korean male patient with a late-onset PFIC. Initial work-up, including whole genome sequencing, did not find any associated gene. However, reviewing sequencing data identified novel compound heterozygous variants in splicing site of USP53 (NM_001371395.1:c.972+3_972+6del, and c.973-1G>A). The patient’s bilirubin level fluctuated during the disease course. At 4.5 years after the initial presentation, the patient’s symptom and high bilirubin level were normalized after administration of high-dose ursodeoxycholic acid. Recognition of this disease entity is important for prompt diagnosis and management. USP53 is recommended for the work-up of low γ-glutamyltransferase cholestasis.
ABSTRACT
Background@#/Aim: The Barcelona Clinic Liver Cancer (BCLC) guidelines recommend systemic therapy as the only first-line treatment for patients with BCLC stage C hepatocellular carcinoma (HCC) despite its heterogeneity of disease extent. We aimed to identify patients who might benefit from combined transarterial chemoembolization (TACE) and radiation therapy (RT) by subclassifying BCLC stage C. @*Methods@#A total of 1,419 treatment-naïve BCLC stage C patients with macrovascular invasion (MVI) who were treated with combined TACE and RT (n=1,115) or systemic treatment (n=304) were analyzed. The primary outcome was overall survival (OS). Factors associated with OS were identified and assigned points by the Cox model. The patients were subclassified into three groups based on these points. @*Results@#The mean age was 55.4 years, and 87.8% were male. The median OS was 8.3 months. Multivariate analysis revealed a significant association of Child-Pugh B, infiltrative-type tumor or tumor size ≥10 cm, main or bilateral portal vein invasion, and extrahepatic metastasis with poor OS. The sub-classification was categorized into low (point ≤1), intermediate (point=2), and high (point ≥3) risks based on the sum of points (range, 0–4). The OS in the low, intermediate, and high-risk groups was 22.6, 8.2, and 3.8 months, respectively. In the low and intermediate-risk groups, patients treated with combined TACE and RT exhibited significantly longer OS (24.2 and 9.5 months, respectively) than those who received systemic treatment (6.4 and 5.1 months, respectively; P<0.0001). @*Conclusions@#Combined TACE and RT may be considered as a first-line treatment option for HCC patients with MVI when classified into low- and intermediate-risk groups.
ABSTRACT
Background/Aims@#Anti-hepatitis B virus (HBV) therapy is required for patients with HBV infection receiving biologics because of the high risk of HBV reactivation. However, it is unclear when to start biologics after anti-HBV treatment. We investigated the risk of HBV reactivation according to the timing of biologics initiation after anti-HBV treatment in immune-mediated inflammatory disease (IMID) patients with HBV infection. @*Methods@#We retrospectively evaluated the incidence of HBV reactivation in IMID patients who received biologics between July 2005 and April 2020. The patients were divided into two groups (within 1-week and after 1-week) according to the timing of biologics initiation after anti-HBV treatment. The cumulative probabilities and factors associated with HBV reactivation were evaluated. @*Results@#A total of 60 hepatitis B surface antigen-positive patients with IMID received biologics (within 1-week group, n=23 [38%]; after 1-week group, n=37 [62%]). During a median follow-up of 34 months (interquartile range, 20 to 74 months), three patients (5%) developed HBV reactivation. In univariate analysis, the timing of biologics after anti-HBV treatment was not significantly associated with the risk of HBV reactivation (hazard ratio, 0.657; 95% confidence interval, 0.059 to 7.327; p=0.733). The cumulative probabilities of HBV reactivation did not significantly differ according to the timing of biologics (p=0.731). @*Conclusions@#The risk of HBV reactivation was not significantly associated with the timing of biologics administration after anti-HBV treatment. Thus, biologics may be initiated early in patients with IMID undergoing treatment for HBV.
ABSTRACT
Background/Aims@#The safety of direct oral anticoagulants (DOACs) compared with warfarin in patients with both nonvalvular atrial fibrillation (AF) and clinically confirmed liver cirrhosis (LC) has not been well studied. We compared the risk of a major bleeding event between DOAC and warfarin treatments in this patient population. @*Methods@#A total of 238 cirrhotic patients with AF were retrospectively analyzed. The major bleeding event risk was compared between DOAC- and warfarin-treated groups. The median follow-up duration was 5.6 years. @*Results@#Among the 238 study patients with LC and AF, 128 (53.8%) received DOACs and 110 (46.2%) received warfarin. The mean patient age was 68.8 years, and 78.2% were men. A major bleeding event occurred in 10 and 20 patients in the DOAC and warfarin groups, respectively, most commonly caused by gastrointestinal bleeding (70.0%). The cumulative risk of major bleeding did not differ between the groups by log-rank test (p = 0.12). This finding did not change when using 60 propensity score-matched pairs. A multivariable Cox regression model indicated that the concomitant use of antiplatelet agents (adjusted hazard ratio [aHR], 2.06; 95% confidence interval [CI], 1.00 to 4.30; p = 0.048) and presence of esophageal or gastric varices confirmed by endoscopic examination (aHR, 2.31; 95% CI, 1.03 to 5.17; p = 0.04) were associated with major bleeding in the entire cohort. @*Conclusions@#A major bleeding event risk is not increased by DOAC compared with warfarin treatment. Antiplatelet agent use and varices are independently associated with a higher risk of major bleeding during anticoagulation.
ABSTRACT
Background/Aims@#The impact of liver cirrhosis (LC) on the clinical outcomes of patients with coronavirus disease 2019 (COVID-19) remains elusive. This study evaluated the association between LC and the development of severe complications from COVID-19. @*Methods@#We used the National Health Insurance claims data of Korea. We included 234,427 patients older than 19 years who tested for severe acute respiratory syndrome coronavirus 2. Patients with LC who were infected with COVID-19 (n = 67, LC+ COVID+) were matched with those with cirrhosis only (n = 332, LC+ COVID–) and those with COVID-19 only (n = 333, LC– COVID+) using a propensity score in a 1:5 ratio. The primary outcome was the development of severe complications. @*Results@#Of the matched patients, the mean age was 60 years and 59.7% were male. Severe complications occurred in 18, 54, and 60 patients in the LC+ COVID+, LC+ COVID–, and LC– COVID+ groups, respectively. After adjusting for comorbidities, there was no significant difference in the risk of developing severe complications from COVID-19 between the LC+ COVID+ and LC– COVID+ groups but significant difference exists between the LC+ COVID+ and LC+ COVID–. Older age, hypertension, cancer, chronic obstructive pulmonary disease, and a higher Charlson comorbidity index were associated with a higher risk of severe complications in patients with cirrhosis and COVID-19. @*Conclusions@#Our study suggests that LC was not independently associated with the development of severe complications, including mortality, in patients with COVID-19. Our results need to be evaluated through a large, prospective study.
ABSTRACT
Background/Aims@#Hepatocellular carcinoma (HCC) is the sixth most common cancer and the second leading cause of cancer-related death in Korea. This study evaluated the characteristics of Korean patients newly diagnosed with HCC in 2015. @*Methods@#Data from the Korean Primary Liver Cancer Registry (KPLCR), a representative sample of patients newly diagnosed with HCC in Korea, were analyzed. A total of 1,558 patients with HCC registered in the KPLCR in 2015 were investigated. @*Results@#The median age was 61.0 years (interquartile range, 54.0-70.0 years), and men accounted for 79.7% of the subjects. Hepatitis B virus infection was the most common underlying liver disease (58.1%). According to the Barcelona Clinic Liver Cancer (BCLC) staging system, stage 0, A, B, C, and D HCCs accounted for 14.2%, 26.3%, 12.7%, 39.0%, and 7.8% of patients, respectively. Transarterial therapy (29.5%) was the most commonly performed initial treatment, followed by surgical resection (25.1%), best supportive care (20.2%), and local ablation therapy (10.5%). Overall, 42.4% of patients were treated in accordance with the BCLC guidelines: 61.7% in stage 0/A, 39.0% in stage B, 18.1% in stage C, and 71.6% in stage D. The 1-, 3-, and 5-year OS rates were 66.5%, 49.0%, and 17.0%, respectively. @*Conclusions@#In 2015, approximately 40% of Korean HCC cases were diagnosed at a very early or early stage, and 35% of patients underwent potentially curative initial treatment. BCLC guidance was followed in 42.4% of patients; in patients with stage B or C disease, there was relatively low adherence.
ABSTRACT
Over the past several decades, entecavir (ETV) and tenofovir disoproxil fumarate (TDF) have remained the first-line antiviral agents in several international guidelines. These two antiviral agents have shown similar short to intermediateterm efficacy, including virologic, biochemical, serologic, and histologic responses. However, huge controversies regarding the antiviral efficacy of ETV and TDF in preventing the development of hepatocellular carcinoma (HCC) still exist. In this review, we summarized recent studies that compared the treatment efficacy of ETV and TDF in terms of HCC development.
ABSTRACT
Background/Aims@#The impact of liver cirrhosis (LC) on the clinical outcomes of patients with coronavirus disease 2019 (COVID-19) remains elusive. This study evaluated the association between LC and the development of severe complications from COVID-19. @*Methods@#We used the National Health Insurance claims data of Korea. We included 234,427 patients older than 19 years who tested for severe acute respiratory syndrome coronavirus 2. Patients with LC who were infected with COVID-19 (n = 67, LC+ COVID+) were matched with those with cirrhosis only (n = 332, LC+ COVID–) and those with COVID-19 only (n = 333, LC– COVID+) using a propensity score in a 1:5 ratio. The primary outcome was the development of severe complications. @*Results@#Of the matched patients, the mean age was 60 years and 59.7% were male. Severe complications occurred in 18, 54, and 60 patients in the LC+ COVID+, LC+ COVID–, and LC– COVID+ groups, respectively. After adjusting for comorbidities, there was no significant difference in the risk of developing severe complications from COVID-19 between the LC+ COVID+ and LC– COVID+ groups but significant difference exists between the LC+ COVID+ and LC+ COVID–. Older age, hypertension, cancer, chronic obstructive pulmonary disease, and a higher Charlson comorbidity index were associated with a higher risk of severe complications in patients with cirrhosis and COVID-19. @*Conclusions@#Our study suggests that LC was not independently associated with the development of severe complications, including mortality, in patients with COVID-19. Our results need to be evaluated through a large, prospective study.
ABSTRACT
Background/Aims@#Hepatocellular carcinoma (HCC) is the sixth most common cancer and the second leading cause of cancer-related death in Korea. This study evaluated the characteristics of Korean patients newly diagnosed with HCC in 2015. @*Methods@#Data from the Korean Primary Liver Cancer Registry (KPLCR), a representative sample of patients newly diagnosed with HCC in Korea, were analyzed. A total of 1,558 patients with HCC registered in the KPLCR in 2015 were investigated. @*Results@#The median age was 61.0 years (interquartile range, 54.0-70.0 years), and men accounted for 79.7% of the subjects. Hepatitis B virus infection was the most common underlying liver disease (58.1%). According to the Barcelona Clinic Liver Cancer (BCLC) staging system, stage 0, A, B, C, and D HCCs accounted for 14.2%, 26.3%, 12.7%, 39.0%, and 7.8% of patients, respectively. Transarterial therapy (29.5%) was the most commonly performed initial treatment, followed by surgical resection (25.1%), best supportive care (20.2%), and local ablation therapy (10.5%). Overall, 42.4% of patients were treated in accordance with the BCLC guidelines: 61.7% in stage 0/A, 39.0% in stage B, 18.1% in stage C, and 71.6% in stage D. The 1-, 3-, and 5-year OS rates were 66.5%, 49.0%, and 17.0%, respectively. @*Conclusions@#In 2015, approximately 40% of Korean HCC cases were diagnosed at a very early or early stage, and 35% of patients underwent potentially curative initial treatment. BCLC guidance was followed in 42.4% of patients; in patients with stage B or C disease, there was relatively low adherence.
ABSTRACT
Over the past several decades, entecavir (ETV) and tenofovir disoproxil fumarate (TDF) have remained the first-line antiviral agents in several international guidelines. These two antiviral agents have shown similar short to intermediateterm efficacy, including virologic, biochemical, serologic, and histologic responses. However, huge controversies regarding the antiviral efficacy of ETV and TDF in preventing the development of hepatocellular carcinoma (HCC) still exist. In this review, we summarized recent studies that compared the treatment efficacy of ETV and TDF in terms of HCC development.