Pant Mamta, Oshima Kiyoko
Department of Pathology, Medical College of Wisconsin, Milwaukee, United States.
Department of Pathology, Medical College of Wisconsin, Milwaukee, United States.
Ann Diagn Pathol. 2017 Dec;31:66-70. doi: 10.1016/j.anndiagpath.2017.02.005. Epub 2017 Feb 9.
Cholesteryl Ester Storage Disease (CESD), is a rare multisystem autosomal recessive disorder and belongs to the broad family of lysosomal storage disorders. It can present anytime from infancy and childhood to even adulthood. The clinical manifestations are generally severe in infants and with milder forms in adults. One of the prominent sites of involvement is liver. Due to low awareness of this condition among physicians including surgical pathologists, majority of the liver biopsies, especially from the adults are often misdiagnosed as non-alcoholic fatty liver disease/non-alcoholic steatohepatitis or cryptogenic cirrhosis. Given the recent availability of safe and effective enzyme replacement therapy that can alter the natural course of CESD, the pathologists signing out adult and pediatric liver biopsies should be aware of this entity, thus contributing to timely patient management. This review discusses the clinical features, pathogenesis, diagnostic approach, differential diagnosis and management of CESD in adults.
胆固醇酯贮积病（CESD）是一种罕见的多系统常染色体隐性疾病，属于溶酶体贮积病大家族。它可在从婴儿期、儿童期到成年期的任何时候出现。临床表现通常在婴儿期较为严重，在成人期则表现为较轻的形式。其中一个主要受累部位是肝脏。由于包括外科病理学家在内的医生对这种疾病的认识不足，大多数肝脏活检，尤其是来自成人的活检，常常被误诊为非酒精性脂肪性肝病/非酒精性脂肪性肝炎或隐源性肝硬化。鉴于最近有了可以改变CESD自然病程的安全有效的酶替代疗法，负责签发成人和儿童肝脏活检报告的病理学家应该了解这种疾病，从而有助于及时对患者进行管理。这篇综述讨论了成人CESD的临床特征、发病机制、诊断方法、鉴别诊断和管理。
