How Gaucher disease affects Does the body?
Signs and symptoms of Gaucher disease result from the accumulation of Gaucher cells in the body. Gaucher cells generally accumulate in the spleen, liver and bone marrow. They may also accumulate in the lymphatic system, lungs, skin, eyes, kidneys, heart and nervous system.
Gaucher cells in the spleen
Accumulation of Gaucher cells in the spleen causing it to expand (splenomegaly) and hyperactivity. Spleen up to 25 times its normal size and protrude from the abdomen, giving the impression that the person affected is obese or pregnant.
When the spleen becomes overactive, it tends to break down red blood cells faster than they are produced, resulting in a deficiency called anemia. Red blood cells carry oxygen from the lungs to all other body cells. As people with anemia do not have enough red blood cells, they suffer from a lack of oxygen. This is why people with Gaucher disease has affected the spleen may lack energy and endurance.
An overactive spleen may also cause a reduction in the number of platelets (a condition called thrombocytopenia). Decreased platelet count reduces the body's ability to clot blood, which increases the tendency to bleeding and bruising. Therefore, people with Gaucher disease may bleed more frequently and more abundantly from the nose and gums than other people. In women, the rules can also be heavier and last longer.
In addition, hyperactivity of the spleen may cause a decrease in white blood cells in response to excessive filtering. It is normal that the number of white cells in the body fluctuates depending on the presence or absence of invaders. For example, the white blood cell count may increase to fight against bacteria or viruses. However, a decrease in white blood cells due to the presence of Gaucher cells in the spleen may reduce the body's ability to fight infections. People with Gaucher disease are sick more often than others.
Before the enzyme replacement therapy (ERT) is available, people with Gaucher disease often had to undergo removal of their enlarged spleen (an operation called splenectomy). Splenectomized patients, doctors have noted an increased accumulation of Gaucher cells in the liver. Therefore, splenectomy is (usually) longer recommended as a treatment for Gaucher disease.
Gaucher cells in the liver
Gaucher cells can also accumulate in the liver. The liver then increases in volume (a condition called hepatomegaly). Accumulation of Gaucher cells may also lead to cirrhosis, a scarring of the liver or other organ dysfunction. Patients may be predisposed to gallstone formation.
Gaucher cells in bone
For most people with Gaucher disease, the bones are affected. This damage is usually progressive and may become one of the most disabling aspects of the disease.
Accumulation of Gaucher cells in bone marrow can damage bone in several ways. It can reduce blood flow, destroy bone (aseptic necrosis or avascular necrosis) and cause permanent problems of mobility.
Accumulation of Gaucher cells in the bone can also result in decreased bone mass (osteopenia). Minerals (calcium and phosphorus) that act together to maintain the strength and form normal bones lose their effectiveness. Therefore, the bones are prone to infections, they are thinner, more brittle and fracture more easily.
Bone involvement in Gaucher disease can cause areas to appear abnormally hard (sclerosis) along the body of the bone or structural changes such as flattening of the upper femur (thigh bone). For example, if healthy bones are characterized by a rounded shape, a femur affected by Gaucher disease may have a flattened shape at the tip of his head. This condition is called "Erlenmeyer flask deformity" because the bone has a shape similar to a laboratory instrument known as "Erlenmeyer flask". The unusual shape indicates an abnormal formation of new bone (remodeling) because of the presence of Gaucher cells in the marrow.