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Gaucher Disease (GD) is a rare inherited lysosomal storage disease caused by biallelic mutations in the gene encoding the lysosomal enzyme acid β-glucocerebrosidase, with progressive accumulation of the sphingolipid glucosylceramide in the lysosomes of macrophages, mainly in the liver, spleen, bone, and bone marrow. It is characterized by anemia, thrombocytopenia, hepatosplenomegaly, sometimes severe bone involvement and, in certain forms, neurological involvement. We present the case of a 77-year-old male, diagnosed in 2006, at 63, with GD type1. At the onset, the patient presented fatigue, asthenia, upper abdominal discomfort, skin pallor and minor bone pain. During follow-up, CT was performed and displayed an enlarged spleen (25 cm) and a well-defined mass in the kidney cortex, but it could not establish whether it was malignant or not. Considering the patient refused surgery at that moment, a new CT exam was performed six months later, and the kidney tumor significantly increased in size. Nephrectomy and necessity splenectomy were performed, and recovery was uneventful. The histopathological examination revealed clear cell renal cell carcinoma, grade 2 Fuhrman. Enzyme substitution therapy with Imiglucerasum was initiated in 2012 with favorable evolution. Seven years later, during a routine ultrasound follow-up, a 4/3.8 cm hyperechoic mass was found in the eighth liver segment. The biological tests revealed a high value of alpha-fetoprotein (AFP-185.2 ng/mL). Considering the patient’s history, possible diagnoses of the newly found focal liver lesion were: gaucheroma, metastasis secondary to kidney cancer, or a primitive liver tumor. Core biopsy was performed, and it was suggestive of a poorly differentiated hepatocellular carcinoma G3. A non-anatomical resection of liver segments VII and VIII with partial resection of inferior vena cava was performed, followed by full post-operative recovery. A histopathological examination confirmed the initial diagnosis. Currently, one month postoperatively, the patient in good clinical condition, continues the enzyme replacement treatment and is undergoing oncological follow-up. We presented a complex case of GD, diagnosed at an advanced age, who responded well to substitution therapy in regard to hematologic and bone symptoms, but who unfortunately developed two types of cancer managed aggressively despite the advanced age.

Keywords: Gaucher Disease; hepatocarcinoma; renal carcinoma; malignancy