[Reappraisal on the clinical diagnosis and treatment of hereditary liver diseases].

Abstract

Hereditary liver diseases are rare conditions characterized by a wide variety of types and very low incidence rate for each one. Their clinical manifestations are diverse, and diagnosis often requires specialized testing, posing a high likelihood of missed or misdiagnosis. Systemic learning the basic knowledge and classification of hereditary liver diseases, as well as an understanding of the clinical features, laboratory findings, imaging, and pathological features of the relatively common hereditary liver diseases in adults, such as Wilson's disease, hemochromatosis, and alpha-1 antitrypsin deficiency, is essential. Targeted genetic testing can aid in the timely identification and correct diagnosis of these diseases. Once the etiology is revealed, appropriate treatment can often improve the clinical outcomes and quality of life. Cell therapy and gene therapy represent future directions and may offer the chance of cure for certain conditions. Currently, for patients who have progressed to end-stage liver disease, liver transplantation remains the ultimate treatment option and mostly yield excellent long-term prognosis if the indication and timing are appropriate.