One of the most common sites for accumulation of Gaucher cells is the spleen. Typically, the effects of Gaucher cell accumulation in this organ cause it to become enlarged and overactive. It may cause the abdomen to become distended so that a person appears overweight or looks pregnant.
Normally, the spleen breaks down old blood cells at the same rate that new ones are produced in the bone marrow. When the spleen becomes overactive, it tends to break down red cells more rapidly than can be produced and a deficiency develops which results in anaemia. Red cells carry oxygen from the lungs to all cells in the body so because anaemic patients lack sufficient red cells, they suffer from the effects of insufficient oxygen. As a result, muscle cells cannot produce the energy they need, and the tendency is to become easily fatigued.
The liver is another frequent site for Gaucher cell accumulation. The liver can become enlarged and function abnormally. In some individuals, the liver enlarges along with the spleen. In patients who have had their spleens removed, the liver may become dramatically enlarged due to the displacement of Gaucher cell accumulation from the spleen to the liver. The effects of abnormal liver function are usually minor, although a few people may develop cirrhosis where the liver develops scar tissue.
Another common site where Gaucher cells collect is the marrow inside your bones. The accumulated Gaucher cells reduce normal bone marrow function in the areas where the Gaucher cells are most concentrated. This can lead to the variety of bone problems that are commonly found in people with Gaucher disease. For example, Gaucher cells in the bone marrow can interfere with the production of blood cells, compounding the deficiencies caused by an overactive, enlarged spleen.
Bones affected by Gaucher disease may be more prone to infection. The bones may be thinner or weaker than normal, or they may be deformed. In addition, ‘bone crises’ can occur when there is a sudden lack of oxygen in an area where Gaucher cells have interfered with normal blood flow. These episodes can be extremely painful, feeling like a ‘heart attack of the bone.’ The restriction in blood flow can also result in destruction of bone tissue (‘aseptic necrosis’) and can lead to permanent mobility problems.
In addition, the bones may become brittle and subject to spontaneous fractures. If these fractures occur in the spinal column, they are called compression fractures and can cause nerve damage. Individuals with Gaucher disease often complain of general bone and joint pain. This pain is most likely due to inflammation in the skeletal system caused by the presence of Gaucher cells.