Hematology

The most common hematologic abnormalities observed in people with Gaucher disease are anemia (low red blood cell count) and thrombocytopenia (low platelet count).  These symptoms can be attributed to two factors associated with Gaucher disease – splenomegaly (enlargement of the spleen), as well as the progressive infiltration of the bone marrow with Gaucher cells. 

The spleen is responsible for a number of functions, including the production of lymphocytes (cells that fight infection), filtration of the blood, storage of blood cells, and destruction of aging blood cells.  As the spleen enlarges, as is typical with Gaucher disease, it can trap and store an excessive number of red blood cells and platelets.  Splenectomy (surgical removal of the spleen) was once used to help manage these complications; however, studies have demonstrated that this may result in worsening bony disease¹. Therefore, splenectomies should only be performed in rare circumstances.

Bone marrow, the spongy tissue located within bones, is involved in the production of white cells, red cells, and platelets.  With Gaucher disease, as the fatty substance accumulates in cells of the bone marrow, the normal function of the bone marrow may be disrupted, thereby inhibiting the production of blood cells and platelets. 

The excess storage of blood cells and platelets in the spleen, coupled with the inhibition of their production in the bone marrow, may result in such problems as decreased resistance to infection, fatigue, easy bruising, frequent nosebleeds, and even bleeding complications secondary to trauma or surgery.

One of the therapeutic goals when treating Gaucher disease is the normalization of all hematologic parameters, which is partially achieved through a reduction in spleen volume after treatment has been initiated.  Labs are drawn on a quarterly basis to monitor each patient’s progress.

¹ Rose JS, Grabowski GA, Barnett SH, Desnick RJ.  Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease. AJR Am J Roentgenol.  1982; 139: 1202–1204.