Walsh Keifer, Park James
Family Medicine, Naval Hospital Camp Pendleton, Oceanside, USA.
Cureus. 2022 Jul 11;14(7):e26760. doi: 10.7759/cureus.26760. eCollection 2022 Jul.
Primary biliary cholangitis (PBC) is a chronic autoimmune condition with many extrahepatic manifestations that are commonly encountered as a patient's primary presenting complaints. Rarely, PBC co-exists as an "overlapping syndrome" with other liver-related autoimmune conditions such as autoimmune hepatitis (AIH). Presented is a rare case of PBC with features of AIH diagnosed in a patient who initially presented with hemoptysis and worsened sicca symptoms due to advanced Sjögren's syndrome. The patient had a three-year evolution of abnormal liver biochemistry and was found to be a heterozygous carrier for hereditary hemochromatosis (H63D mutation). Given that patients with PBC-AIH are at an increased risk of complications compared to isolated disease from either disorder, early diagnosis and prompt management can help spare patients from cirrhosis, liver failure and transplantation, or even death.
原发性胆汁性胆管炎（PBC）是一种慢性自身免疫性疾病，有许多肝外表现，这些表现常作为患者的主要就诊主诉。PBC很少作为一种“重叠综合征”与其他肝脏相关自身免疫性疾病如自身免疫性肝炎（AIH）共存。本文报道了一例罕见的具有AIH特征的PBC病例，该患者最初因晚期干燥综合征出现咯血和干燥症状加重。患者有三年的肝脏生化异常演变过程，被发现是遗传性血色素沉着症（H63D突变）的杂合子携带者。鉴于与单一疾病相比，PBC-AIH患者发生并发症的风险增加，早期诊断和及时治疗有助于使患者避免肝硬化、肝衰竭和移植，甚至死亡。
