OBJECTIVE

Using case series show the need to include Gaucher disease in the differential diagnosis of the splenohepatomegaly and cryptogenic cirrhosis.

MAIN POINTS

Liver cirrhosis (LC) is one of the leading causes of mortality among gastrointestinal tract diseases. In addition, it is associated with the development of fatal and poorly controlled complications. Hence we need effective diagnostic and preventive methods.

About 75% of patients with LC first learn about their disease after complications development such as — liver failure, variceal bleeding, or ascites. 75—80% of all LC cases in the Russian Federation are due to alcoholic liver disease, or hepatitis B and C. Rare causes of LC include autoimmune hepatitis, vascular and hereditary metabolic liver diseases. The central clinical, instrumental, and laboratory syndromes in LC are splenohepatomegaly and hypersplenism, which occurs in liver diseases and pathology of the mononuclear phagocyte system such as Gaucher’s disease.

CONCLUSION

Knowledge of Gaucher disease signs and symptoms allows for timely diagnosis and initiation of the specific therapy, preventing irreversible changes in the organism and avoiding patient disability.