Biopsy Diagnosis of Inherited Liver Disease

Hepatic dysfunction during childhood can be due to acquired or inherited etiologies or a combination. The distinction can be difficult to make on liver biopsy, because the inherited disorders are rare and often lack pathognomonic light microscopic features. Recent progress in understanding the pathogenesis of these disorders has led to advances in molecular genetic screening and confirmatory tests. For a majority of these disorders, the liver biopsy continues to play a crucial role in primary diagnosis or confirmation. This article discusses algorithms that may aid pathologists in differential diagnosis of common inherited disorders of the liver, with emphasis on ancillary diagnostic tools and reference assays that are critical in establishing the diagnosis.