Gaucher disease typically affects the body in many ways, as a result of Gaucher cells accumulating in various organs, especially the liver, spleen, and bone marrow. The disease’s bone-related symptoms can be particularly painful and debilitating, and impair a child’s mobility.

Children with Gaucher disease may have delayed growth. Parents and teachers may have a tendency to “baby” children with Gaucher disease because, due to potential delayed growth, they appear much younger than their classmates. They may be below normal in growth and in weight for children of their age. Delay in reaching puberty may also occur.

The diagram below illustrates how Gaucher disease affects various parts of a child’s body. Please click on the numbers to view the various signs and symptoms of Gaucher disease in children.

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1. Enlarged liver and/or spleen

Children with Gaucher disease may have protruding abdomens, caused by the liver and/or spleen swelling to unusual sizes. Spleen enlargement is often the most frequent initial finding and may be first recognized when the child is as young as 6 months. The spleen may become so enlarged that a child may adopt a swayback posture to support the weight of an enlarged abdomen.

Body image can be a difficult challenge for children who have an enlarged spleen and/or liver. Children may be teased or ridiculed for looking fat, pregnant, small in stature or just “different.”

Enlarged liver and/or spleen can have many other effects on children, including appetite suppression and blood-related problems. Appetite suppression is caused by the enlarged organs pressing on the stomach and creating the sensation of feeling full.

2. Low blood platelet count

Platelets are the blood cells responsible for blood clottting; they are formed in bone marrow and then released into the blood. A build-up of Gaucher cells in bone marrow may cause fewer blood platelets to be produced. In addition, an enlarged, overactive spleen may break down blood cells faster than they are produced, thus also contributing to an overall lower platelet count. As a result, Gaucher patients’ blood may not clot well, and they may experience excessive bruising and bleeding, such as frequent nosebleeds and bleeding gums.

3. Low red blood cell count (anemia)

Red blood cells are responsible for carrying oxygen to all cells in the body. The spleen is responsible for breaking down these cells, but when it is enlarged, it may become overactive and break down blood cells faster than they are produced. The resulting red blood cell deficiency is called anemia, and it causes people to feel fatigued because the body is not getting enough oxygen. While anemia is often responsible for fatigue and low stamina in Gaucher patients, these symptoms may also result from a higher-than-normal metabolism found in many children suffering from Gaucher disease.

Some children may lack the energy and stamina to play with other children. They may have difficulty staying alert in the classroom, or concentrating on their homework. Children may even feel tired after a full night’s sleep. Ordinary activities may require more effort for a child with Gaucher disease. However, most children find that they can engage in their normal activities if they are careful to pace themselves and if they plan accordingly with family, friends, teachers, and others involved in their care.

4. Low white blood cell count

White blood cells are responsible for helping fight infection, such as when bacteria or viruses enter the body. The spleen is responsible for filtering these cells, but with Gaucher disease, it may become overactive and filter white blood cells faster than usual. The resulting white blood cell deficiency makes it harder for the body to fend off infection, so children with Gaucher disease may get sick more frequently than their peers.

5. Bone crisis

Gaucher patients may experience severe bone pain, called “bone crisis,” caused by insufficient blood circulation to the bone due to interference from Gaucher cells and by the local release of chemical factors. The pain is intense, often accompanied by fever, and can last from a few hours to a few days or even weeks, usually rendering patients bedridden during this time. Hospitalization may also be necessary.

6. Bone tissue death

As Gaucher cells accumulate in bone marrow, they can restrict normal blood flow - sometimes to the point that bone tissue dies. This bone destruction causes severe pain and can lead to fractures and joint collapse. Skeletal symptoms of bone involvement can occur in children as young as 2 years of age.

7. Bone thinning

Gaucher disease causes reduced mass and density of bone tissue, causing it to thin and weaken and thus be more susceptible to fractures. Skeletal symptoms of bone involvement can occur in children as young as 2 years of age.

8. Pathological fracture

Pathological fractures are broken bones caused by disease rather than by trauma (such as impact from a fall or accident). The accumulation of Gaucher cells in bone marrow can weaken bones in various ways, making them susceptible to such fractures simply from normal activity.

9. Erlenmeyer flask deformity

Gaucher disease includes abnormalities in the way bones develop, or remodel, resulting in irregular shapes. The most common among Gaucher patients is the Erlenmeyer flask deformity, named after the type of laboratory flask whose shape it resembles. The ends of the bone, most commonly the femur and tibia, develop a flared, flattened shape rather than the normal rounded form.

Gaucher Registry

For more than two decades, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »