BACKGROUND Alpha-1 antitrypsin deficiency is a rare genetic disease and a leading cause of inherited alterations in plasma protein metabolism(APPM).AIM To understand the prevalence,burden and progression of liver dise...BACKGROUND Alpha-1 antitrypsin deficiency is a rare genetic disease and a leading cause of inherited alterations in plasma protein metabolism(APPM).AIM To understand the prevalence,burden and progression of liver disease in patients with APPM including alpha-1 antitrypsin deficiency.METHODS We conducted a retrospective analysis of anonymized patient-level claims data from a German health insurance provider(AOK PLUS).The APPM cohort comprised patients with APPM(identified using the German Modification of the International Classification of Diseases-10th Revision[ICD-10-GM]code E88.0 between 01/01/2010-30/09/2020)and incident liver disease(ICD-10-GM codes K74,K70.2-3 and K71.7 between 01/01/2012-30/09/2020).The control cohort comprised patients without APPM but with incident liver disease.Outcomes were incidence/prevalence of liver disease in patients with APPM,demographics/baseline characteristics,diagnostic procedures,progression-free survival(PFS),disease progression and mortality.RESULTS Overall,2680 and 26299 patients were included in the APPM(fibrosis,96;cirrhosis,2584)and control(fibrosis,1444;cirrhosis,24855)cohorts,respectively.Per 100000 individuals,annual incidence and prevalence of APPM and liver disease was 10-15 and 36-51,respectively.In the APPM cohort,median survival was 4.7 years[95%confidence interval(CI):3.5-7.0]and 2.5 years(95%CI:2.3-2.8)in patients with fibrosis and cirrhosis,respectively.A higher proportion of patients in the APPM cohort experienced disease progression(92.0%)compared with the control cohort(67.2%).Median PFS was shorter in the APPM cohort(0.9 years,95%CI:0.7-1.1)compared with the control cohort(3.7 years,95%CI:3.6-3.8;P<0.001).Patients with cirrhosis in the control cohort had longer event-free survival for ascites,hepatic encephalopathy,hepatic failure and esophageal/gastric varices than patients with cirrhosis in the APPM cohort(P<0.001).Patients with fibrosis in the control cohort had longer event-free survival for ascites,cirrhosis,hepatic failure and esophageal/gastric varices than patients with fibrosis in the APPM cohort(P<0.001).In the APPM cohort,the most common diagnostic procedures within 12 mo after the first diagnosis of liver disease were imaging procedures(66.3%)and laboratory tests(51.0%).CONCLUSION Among patients with liver disease,those with APPM experience substantial burden and earlier liver disease progression than patients without APPM.展开更多
文摘BACKGROUND Alpha-1 antitrypsin deficiency is a rare genetic disease and a leading cause of inherited alterations in plasma protein metabolism(APPM).AIM To understand the prevalence,burden and progression of liver disease in patients with APPM including alpha-1 antitrypsin deficiency.METHODS We conducted a retrospective analysis of anonymized patient-level claims data from a German health insurance provider(AOK PLUS).The APPM cohort comprised patients with APPM(identified using the German Modification of the International Classification of Diseases-10th Revision[ICD-10-GM]code E88.0 between 01/01/2010-30/09/2020)and incident liver disease(ICD-10-GM codes K74,K70.2-3 and K71.7 between 01/01/2012-30/09/2020).The control cohort comprised patients without APPM but with incident liver disease.Outcomes were incidence/prevalence of liver disease in patients with APPM,demographics/baseline characteristics,diagnostic procedures,progression-free survival(PFS),disease progression and mortality.RESULTS Overall,2680 and 26299 patients were included in the APPM(fibrosis,96;cirrhosis,2584)and control(fibrosis,1444;cirrhosis,24855)cohorts,respectively.Per 100000 individuals,annual incidence and prevalence of APPM and liver disease was 10-15 and 36-51,respectively.In the APPM cohort,median survival was 4.7 years[95%confidence interval(CI):3.5-7.0]and 2.5 years(95%CI:2.3-2.8)in patients with fibrosis and cirrhosis,respectively.A higher proportion of patients in the APPM cohort experienced disease progression(92.0%)compared with the control cohort(67.2%).Median PFS was shorter in the APPM cohort(0.9 years,95%CI:0.7-1.1)compared with the control cohort(3.7 years,95%CI:3.6-3.8;P<0.001).Patients with cirrhosis in the control cohort had longer event-free survival for ascites,hepatic encephalopathy,hepatic failure and esophageal/gastric varices than patients with cirrhosis in the APPM cohort(P<0.001).Patients with fibrosis in the control cohort had longer event-free survival for ascites,cirrhosis,hepatic failure and esophageal/gastric varices than patients with fibrosis in the APPM cohort(P<0.001).In the APPM cohort,the most common diagnostic procedures within 12 mo after the first diagnosis of liver disease were imaging procedures(66.3%)and laboratory tests(51.0%).CONCLUSION Among patients with liver disease,those with APPM experience substantial burden and earlier liver disease progression than patients without APPM.
