Current Developments in the Diagnosis and Treatment of Gaucher Disease

Abstract

Gaucher disease is a rare hereditary condition characterized by a glucocerebrosidase enzyme deficiency. This deficiency leads to a buildup of fatty substances called lipids in specific organs, such as the spleen and liver, which can cause the organs to enlarge and affect their function. The lipids can also build up in bone tissue, weakening it and increasing the risk of fractures. The accumulated lipids form fibrillar aggregates that accumulate in macrophages, giving the cell cytoplasm a characteristic "crumpled tissue paper" appearance. These cells, known as Gaucher cells, infiltrate various organs and are responsible for the significant signs of the disease. Gaucher cells are seen in the macrophage-monocyte system, notably in the bone marrow, which is the pathologic characteristic of the disease. The most commonly seen presenting signs and symptoms are painless hepatomegaly, splenomegaly, hypersplenism, and pancytopenia.