Clinical Analysis Of 385 Cases With Specific Portal Hypertension-Abernethy Malformation

Background:Abernethy malformation is a disease in which the portal vein is absent or hypoplastic due to the abnormal development of embryonic umbilical vein and yolk vein,the portal vein blood flow cannot return or the return is not smooth,and then portal hypertension occurs,and the abnormal shunt between portal vein and vena cava system occurs.Portal hypertension caused by Abernethy malformation is easy to be missed and misdiagnosed.Imaging examination is an important diagnostic method for this disease.This study reviewed the clinical data of five patients with Abernethy malformation treated in Army Specialized Medical Center,and summarize the clinical data of 380 patients with Abernethy malformation from domestic and foreign literature from January 1989 to August 2021.A total of 385 patients with Abernethy malformation were statistically analyzed for their clinical symptoms,laboratory tests,imaging features,diagnosis,treatment,and prognosis.The purpose of this study is to analyze its clinical characteristics in order to improve the ability of clinicians to diagnose and treat Abernethy malformation.Methods:1.Patients1.1 Collect the clinical data of 5 patients with Abernethy malformation confirmed by Army Specialized Medical Center.1.2 Collect clinical data of Abernethy malformation patients in domestic and foreign literature from January 1989 to August 2021.2.Data collectionGender,age,clinical characteristics,complications,laboratory tests,endoscopy,pathology,imaging,treatment,and prognosis information of patients with Abernethy malformation.3.Statistical methodsCategorical variables were reported as numbers,percentages(%),and continuous variables as mean ± standard deviation.Chi-square and Fisher exact tests were used for categorical variables and t test or Mann-Whitney U test for continuous variables for comparisons between groups.The difference was considered statistically significant with a P < 0.05.Result:1.Five patients with Abernethy malformation diagnosed treated in Army Specialized Medical Center1.1 General clinical dataAmong the 5 patients with Abernethy malformation,there were 2 males and 3 females,aged 16-67 years,with digestive symptoms as the main manifestations.1.2 Laboratory and endoscopic examination5 patients had basically normal liver function,and 2 cases had increased blood ammonia.Endoscopic examination: 3 patients showed esohageal or gastric varices.1.3 Pathological examination3 cases of liver biopsy were performed without liver cirrhosis.1.4 Imaging examination and diagnosisAbdominal contrast-enhanced CT scans of 5 patients showed a slender main portal vein,sparse intrahepatic portal vein,and extrahepatic portosystemic shunt.1.5 OthersWhole-exome sequencing of one patient revealed ATP7 A variant.1.6 Treatment and prognosisExcept for one patient who gave up treatment due to liver cancer resection and postoperative liver failure,the prognosis of the other four patients was good.2.380 patients with Abernethy malformation in the literatures2.1 LiteraturesFinally,262 domestic and foreign literature on Abernethy malformations were included.2.2 Classification,gender and age distribution of patients with Abernethy malformationThere were 86 males and 114 females in type I patients.There were 106 males and 74 females in type II patients.The average age of patients with type I and type II Abernethy malformations was 17.08 ± 19.42 years and 14.85 ± 19.60 years,respectively.2.3 Reasons for the initial visit of patients with Abernethy malformationPatients with Abernethy malformation mainly seek medical attention due to digestive system related symptoms(70.6%).2.4 Patients with Abernethy malformationwith combined with other malformations45.0% and 37.8% of patients with type I and type II Abernethy malformations combined with one or more other developmental malformations,respectively.2.5 Complications of patients with Abernethy malformation63.5% and 58.3% of patients with type I and type II Abernethy malformation had complications caused by Abernethy malformation,respectively.There were significant differences in the incidence of total liver lesions,liver cirrhosis and splenomegaly between patients with type I and type II Abernethy malformations(P<0.05).2.6 Imaging examination of patients with Abernethy malformation59.0% of Type I patients underwent abdominal CT,while 76.1% of Type II patients underwent abdominal CT.Typical imaging manifestations include missing or slender main portal vein,and significant tortuous dilation of portal systemic shunt vessels visible outside the liver.2.7 Endoscopic and pathological examination of patients with Abernethy malformation41.7% and 61.5% of patients with type I and type II Abernethy malformations were suggestive of lesions by gastroscopy,respectively.In colonoscopy,85.7% and 76.9% of the lesions were suggestively.27.1% of patients had liver pathological examination.The pathological manifestations were no portal vein branches or hypoplasia in the liver,and no typical histological features of liver cirrhosis.2.8 Laboratory examination of patients with Abernethy malformationThe proportion of liver function damage in type I and type II patients was not high,with 87.5%-89.1% having elevated blood ammonia levels.2.9 Treatment of patients with Abernethy malformation35.5% of type I patients underwent liver transplantation,while 24.5%-32.0%underwent shunt vessel occlusion in type II patients.2.10 Prognosis of patients with Abernethy malformationThe improvement rate of liver transplantation in patients with type I was 77.8% of.The improvement rate of shunt vessel occlusion surgery in patients with type II was 89.4%-97.6%.Conclusion:1.Abernethy malformation is a rare disease with congenital anomalies of portal vein development leading to significant portal hypertension and portosystemic shunt.Type I is more common in women,type II is more common in men.2.The clinical manifestations of patients with Abernethy malformation are diverse,and digestive system related symptoms are the most common.The degree of liver function impairment in patients with Abernethy malformation is mild,and there are often no laboratory findings of typical cirrhosis such as inverted white globe ratio,jaundice and coagulation damage.3.Imaging examination is the main diagnostic method for patients with Abernethy malformation,with imaging features of missing or slender main portal vein and significant tortuous dilation of portal systemic shunt vessels visible outside the liver.4.The pathological manifestations of patients with Abernethy malformation are no portal vein branches or intrahepatic portal vein dysplasia in the liver,and no typical histological manifestations of liver cirrhosis.5.Patients with type I prefer liver transplantation,while patients with type II often choose shunt vessel occlusion.