Abstract：
UNASSIGNED: There are about 7,000 rare diseases that affect 10% of the world population. Primary biliary cholangitis, an autoimmune chronic liver disease of the interlobular bile ducts, is one of the most common causes of chronic cholestasis. However, it is a rare, often underdiagnosed and undertreated, disease which can lead to cirrhosis and liver failure. We aimed to assess the proportion of undetected primary biliary cholangitis patients in primary care through a clinical management process.
UNASSIGNED: We made two extractions of the clinical data concerning liver diseases, risk factors and laboratory tests from the databases of a sample of general practitioners, with a check and correction of mistakes. The clinical data of the patients without liver disease and major risk factors, and with serum Alkaline Phosphatase above the laboratory reference values, were re-evaluated by each general practitioner with an expert gastroenterologist. The patients with elevated Alkaline Phosphatase values and without evidence of intrahepatic or extrahepatic causes of cholestasis were considered suspected for primary biliary cholangitis and assessed for antimitochondrial antibodies test and specialist\' s evaluation, according to present guidelines.
UNASSIGNED: A total of 20,480 adults attending 14 general practitioners in the province of Brescia, Northern Italy, were included in the study. Nine patients had a prior primary biliary cholangitis diagnosis, with a prevalence of 43.9/100000. After excluding 2094 (10.2%) patient with liver diseases or other causes of cholestasis, 121 subjects with Alkaline Phosphatase above the reference values were re-evaluated by the general practitioners and gastroenterologist, and 27 patients without symptoms or signs of cholestasis were considered suspected for primary biliary cholangitis: 9 of them were tested for antimitochondrial antibodies, and three new primary biliary cholangitis cases were detected (+33%).
UNASSIGNED: This study shows that there is a not negligible burden of undetected cases of adult rare diseases that can be diagnosed in primary care, through a disease management procedure, without modifying the routine clinical practice.
UNASSIGNED: We made two extractions of the clinical data concerning liver diseases, risk factors and laboratory tests from the databases of a sample of general practitioners, with a check and correction of mistakes. The clinical data of the patients without liver disease and major risk factors, and with serum Alkaline Phosphatase above the laboratory reference values, were re-evaluated by each general practitioner with an expert gastroenterologist. The patients with elevated Alkaline Phosphatase values and without evidence of intrahepatic or extrahepatic causes of cholestasis were considered suspected for primary biliary cholangitis and assessed for antimitochondrial antibodies test and specialist\' s evaluation, according to present guidelines.
UNASSIGNED: A total of 20,480 adults attending 14 general practitioners in the province of Brescia, Northern Italy, were included in the study. Nine patients had a prior primary biliary cholangitis diagnosis, with a prevalence of 43.9/100000. After excluding 2094 (10.2%) patient with liver diseases or other causes of cholestasis, 121 subjects with Alkaline Phosphatase above the reference values were re-evaluated by the general practitioners and gastroenterologist, and 27 patients without symptoms or signs of cholestasis were considered suspected for primary biliary cholangitis: 9 of them were tested for antimitochondrial antibodies, and three new primary biliary cholangitis cases were detected (+33%).
UNASSIGNED: This study shows that there is a not negligible burden of undetected cases of adult rare diseases that can be diagnosed in primary care, through a disease management procedure, without modifying the routine clinical practice.
摘要：
■大约有7,000种罕见疾病影响了10％的世界人口。原发性胆汁性胆管炎,小叶间胆管的自身免疫性慢性肝病，是慢性胆汁淤积最常见的原因之一。然而,这是一种罕见的，经常诊断不足和治疗不足，可导致肝硬化和肝功能衰竭的疾病。我们旨在通过临床管理流程评估初级保健中未发现的原发性胆汁性胆管炎患者的比例。
■我们提取了两个关于肝脏疾病的临床数据，来自全科医生样本数据库的风险因素和实验室测试，检查和纠正错误。无肝病患者的临床资料及主要危险因素,血清碱性磷酸酶高于实验室参考值，由每位全科医生与胃肠病专家进行重新评估。碱性磷酸酶值升高且无肝内或肝外胆汁淤积的证据的患者被认为怀疑为原发性胆汁性胆管炎，并进行抗线粒体抗体测试和专家评估。根据目前的指导方针。
■布雷西亚省共有20,480名成年人参加了14名全科医生，意大利北部,包括在研究中。九名患者先前有原发性胆管炎诊断，患病率为43.9/100000。排除2094（10.2％）患有肝病或其他胆汁淤积的患者后，121例碱性磷酸酶高于参考值的受试者由全科医生和胃肠病学家重新评估，27例没有胆汁淤积症状或体征的患者被认为怀疑为原发性胆汁性胆管炎：其中9例接受了抗线粒体抗体测试，发现3例新的原发性胆汁性胆管炎病例（+33%）。
■这项研究表明，在初级保健中可以诊断出未被发现的成人罕见疾病病例具有不可忽视的负担，通过疾病管理程序，而不改变常规的临床实践。
■我们提取了两个关于肝脏疾病的临床数据，来自全科医生样本数据库的风险因素和实验室测试，检查和纠正错误。无肝病患者的临床资料及主要危险因素,血清碱性磷酸酶高于实验室参考值，由每位全科医生与胃肠病专家进行重新评估。碱性磷酸酶值升高且无肝内或肝外胆汁淤积的证据的患者被认为怀疑为原发性胆汁性胆管炎，并进行抗线粒体抗体测试和专家评估。根据目前的指导方针。
■布雷西亚省共有20,480名成年人参加了14名全科医生，意大利北部,包括在研究中。九名患者先前有原发性胆管炎诊断，患病率为43.9/100000。排除2094（10.2％）患有肝病或其他胆汁淤积的患者后，121例碱性磷酸酶高于参考值的受试者由全科医生和胃肠病学家重新评估，27例没有胆汁淤积症状或体征的患者被认为怀疑为原发性胆汁性胆管炎：其中9例接受了抗线粒体抗体测试，发现3例新的原发性胆汁性胆管炎病例（+33%）。
■这项研究表明，在初级保健中可以诊断出未被发现的成人罕见疾病病例具有不可忽视的负担，通过疾病管理程序，而不改变常规的临床实践。
