The proband was a 32-year-old female patient who sought medical attention for over 9 months of pregnancy, reduced fetal movement, and discomfort in the lower abdomen. The proband and her father had normal activated partial thromboplastin time and prothrombin time, decreased fibrinogen activity and antigen levels, and prolonged thrombin time, whereas the test results of her mother were normal. Ultrasonography showed intermuscular vein thrombosis in the left calf of the proband. Peripheral blood DNA was extracted from the proband and her parents, and Sanger sequencing was performed to detect the base sequences of the FGA, FGB, and FGG genes. The proband and her father had heterozygous missense mutations in exon 6 c.615A > C (p. Leu205Phe) and exon 8 c.1121A > C (p. Tyr374Ser) of the FGG gene. Bioinformatics analysis suggested that the two gene mutations may be the pathogenic mechanism of this congenital hypodysfibrinogenemia family.

Autoimmune liver diseases (AILDs) is a group of chronic inflammatory liver diseases mediated by autoimmune disorders, while viral hepatitis is a group of infectious diseases mainly induced by hepatotropic viruses, resulting in liver inflammation and necrotic lesions. A viral infection is a risk factor for AILDs, and the two conditions may coexist. This article provides a review of the diagnosis and treatment of AILDs combined with viral hepatitis in recent years.

The proband was a 32-year-old female patient who sought medical attention for over 9 months of pregnancy, reduced fetal movement, and discomfort in the lower abdomen. The proband and her father had normal activated partial thromboplastin time and prothrombin time, decreased fibrinogen activity and antigen levels, and prolonged thrombin time, whereas the test results of her mother were normal. Ultrasonography showed intermuscular vein thrombosis in the left calf of the proband. Peripheral blood DNA was extracted from the proband and her parents, and Sanger sequencing was performed to detect the base sequences of the FGA, FGB, and FGG genes. The proband and her father had heterozygous missense mutations in exon 6 c.615A > C (p. Leu205Phe) and exon 8 c.1121A > C (p. Tyr374Ser) of the FGG gene. Bioinformatics analysis suggested that the two gene mutations may be the pathogenic mechanism of this congenital hypodysfibrinogenemia family.

At present,there are still certain problems in the diagnosis and treatment of primary biliary cholangitis(PBC),such as a low rate of early diagnosis,limitations in the selection of therapeutic drugs.For patients with atypical PBC and a normal level of alkaline phosphatase,IgM,age,and sex can be used as important indicators for the diagnosis of PBC.By shortening the cycle for evaluation,"Xi'an criteria"can facilitate early identification of patients who have a suboptimal response to ursodesoxycholic acid after 1-month treatment and allows clinicians to initiate second-line therapeutic agent.It provides significant platform in the clinical evaluation of prognostic information.Based on the optimization of existing models for prognostic evaluation,new dynamic models should be established based on serum indicators and liver stiffness to facilitate accurate prognostic assessment and active new drug research and development.

Autoimmune liver disease (AILD) is a group of chronic inflammatory liver diseases mediated by autoimmune disorders. Early-stage diagnosis and standardized treatment are key to controlling the progression of AILD. Clearing mechanism and exploring new treatment options has always been an important research direction. Herein, the research progress emphasizing the field of AILD in 2024 is reviewed.

Objective:To retrospectively analyze the current status of consultation, clinical characteristics, and treatment status of patients with IgG4-related disease (IgG4-RD) in order to provide assistance and a basis for early and standardized diagnosis and treatment.Methods:IgG4-RD cases admitted to our hospital from June 2015 to October 2023 were collected. The details of patients' basic information, initial symptoms, department visits, laboratory and imaging findings, histopathological examination results, and treatment plans were recorded. A statistical descriptive analysis was performed on the data.Results:A total of 105 patients with IgG4-RD were included, with a median age of 59.0 (18.0, 78.0) years. The main departments visited were clinical immunology and gastroenterology (83.8%, 88/105). The median diagnostic duration was eight months, with a maximum of 300 months, and 33.3% (35/105) of patients needed over one year for diagnosis. 92 cases underwent histopathological examinations and IgG4 staining, with a total positivity rate of 87.0% (80/92). Among these, sixteen cases underwent pathological examination after surgery, with a positivity rate of 100%; the remaining 76 cases out of 92 underwent liver biopsy, with a positivity rate of 76.1%. Out of these, there were 22 cases from the pancreas, 21 from the submaxillary gland, nine from the labial gland, and seven each from the duodenal papilla and liver, with positivity rates of 81.8%, 81.0%, 55.6%, 85.7%, and 85.7%, respectively. Eleven cases (10.5%) with normal serum IgG4 were diagnosed based on multi-organ involvement and pathological results. 94 cases (89.5%) had elevated IgG4, with a predominance of＞2.70 g/L. The median follow-up period for the 87 cases was 14 months. Two cases had poor response, twelve patients relapsed, five cases relapsed without combined drug treatment after surgery, five cases relapsed due to drug withdrawal, and two cases relapsed while tapering off steroids.Conclusions:As a multisystem disease, IgG4-RD still faces the difficulties of time-consuming diagnosis and inappropriate treatment. Therefore, it is necessary to rely on a multidisciplinary collaboration model to improve the awareness level and promote the early and standardized diagnosis and treatment of patients with IgG4-RD.

At present,there are still certain problems in the diagnosis and treatment of primary biliary cholangitis(PBC),such as a low rate of early diagnosis,limitations in the selection of therapeutic drugs.For patients with atypical PBC and a normal level of alkaline phosphatase,IgM,age,and sex can be used as important indicators for the diagnosis of PBC.By shortening the cycle for evaluation,"Xi'an criteria"can facilitate early identification of patients who have a suboptimal response to ursodesoxycholic acid after 1-month treatment and allows clinicians to initiate second-line therapeutic agent.It provides significant platform in the clinical evaluation of prognostic information.Based on the optimization of existing models for prognostic evaluation,new dynamic models should be established based on serum indicators and liver stiffness to facilitate accurate prognostic assessment and active new drug research and development.

Autoimmune liver diseases (AILDs) is a group of chronic inflammatory liver diseases mediated by autoimmune disorders, while viral hepatitis is a group of infectious diseases mainly induced by hepatotropic viruses, resulting in liver inflammation and necrotic lesions. A viral infection is a risk factor for AILDs, and the two conditions may coexist. This article provides a review of the diagnosis and treatment of AILDs combined with viral hepatitis in recent years.

Autoimmune liver disease (AILD) is a group of chronic inflammatory liver diseases mediated by autoimmune disorders. Early-stage diagnosis and standardized treatment are key to controlling the progression of AILD. Clearing mechanism and exploring new treatment options has always been an important research direction. Herein, the research progress emphasizing the field of AILD in 2024 is reviewed.