Abstract: A male patient of 59 year old presented with recurrent abdominal distension for more than 10 years. Physical examination: clear mind, slight yellowing of skin and mucous membrane, no touch under the liver costal, spleen subcostal reached about 20cm, positive mobile turbidity, skin pigmentation of both lower limbs. Laboratory examination: WBC 1.75×10⁹/L, RBC 2.92×10¹²/L, HGB 97.00g/L, PLT 22.00×10⁹/L; AFP increased from 2.2μg/L to 82.25μg/L in recent 9 months, and AFP-L3 3.0μg/L. Hepatitis B surface antigen and hepatitis B e antigen were positive. CT and MRI of abdomen showed chronic hepatitis B cirrhosis, splenomegaly, ascites, primary liver cancer and multiple splenic aneurysms. Gene detection: GBA gene detected suspected pathogenic variation of chromosome position 1q22, Exonll, cDNA level: c.1448T>A, protein level: P (Leu483Gln), which is consistent with the gene detection of his sister (confirmed GD patient). The patient was diagnosed as adult Gaucher disease.

Key words: Gaucher disease, Chronic viral hepatitis B, Liver cirrhosis, Splenomegaly, Primary liver cancer, Diagnosis