Abdominal localization of Tangier disease mimicking a pancreatic neoplasm

Tangier disease is a rare genetic disorder of lipid metabolism, characterized by severe deficiency of plasma high-density lipoprotein cholesterol, low-plasma total cholesterol, and accumulation of cholesteryl ester in macrophages. Abdominal manifestation of Tangier disease is extremely rare, being reported only once in the English literature. We describe a 55-year-old patient with this condition, who underwent splenectomy 37 years before, because of splenomegaly with thrombocytopenia, and subsequently presented with abdominal pain and pancreatic mass, simulating a pancreatic tumor. The preoperative diagnosis of endocrine or solid-cystic neoplasm was made, and the tumor was successfully resected with distal pancreatectomy. Histological examination showed that the mass was composed of histiocytic cells containing lipids; some aggregates of giant polynucleated histiocytes with intracytoplasmic cholesterol crystals. To our knowledge, this is the first report of pancreatic manifestation of Tangier disease. As suggested earlier, splenectomy in these patients seems to predispose to deposition of lipids and infiltration of the abdomen by inflammatory cells.