How does Gaucher disease affect the body?


The signs and symptoms of Gaucher disease are the result of an accumulation of Gaucher cells (cells with accumulation of non-broken substances) in the body. Gaucher cells usually accumulate in the spleen, liver and bone marrow. They can also accumulate in the lymphatic system, the lungs, the skin, the eyes, the kidneys, the heart and the nervous system.


Gaucher cells in the spleen


The accumulation of Gaucher cells in the spleen leads to enlargement (splenomegaly) and hyperactivity of the organ. The spleen can swell up to 25 times the normal size, causing the abdomen to swell and it looks like the person is overweight or pregnant.





When the spleen becomes hyperactive, it tends to break down red blood cells faster than they can be produced, resulting in a condition called anemia.Red blood cells transport oxygen from the lungs to all cells in the body.




Because people with anemia have insufficient red blood cells, the oxygen supply in them is insufficient, leading to fatigue. Therefore, people whose Gaucher disease has affected the spleen can suffer from a lack of energy and resistance against disease. They are often tired.


A hyperactive spleen can also reduce the number of platelets (this condition is called thrombocytopenia). A decrease in the number of platelets reduces blood clotting in the body, which can lead to increased susceptibility to bleeding and bruising. People who suffer from Gaucher disease can therefore suffer more often than other people from excessive and frequent nosebleeds and bleeding gums. Menstruation can be more severe and can also last longer.


In addition, a hyperactive spleen can also lead to a lack of white blood cells due to excessive filtration. It is normal for the number of white blood cells to fluctuate in the body, depending on the presence or absence of foreign invaders. For example, the number of white blood cells can rise to remove threats such as bacteria or viruses. However, a low white blood cell count due to Gaucher cells in the spleen can lead to a reduced ability of the body to ward off infections. As a result, people suffering from Gaucher disease can become ill more often than others.

Before the enzyme replacement therapy was available, Gaucher patients often had their enlarged spleen removed (a surgical procedure called splenectomy). In patients in whom the spleen was removed, doctors noticed an increase in the accumulation of Gaucher cells in the liver. Consequently, splenectomy is no longer considered a recommended treatment for Gaucher disease.

Gaucher cells in the liver

Gaucher cells can also accumulate in the liver. As a result, the liver can enlarge (a condition known as hepatomegaly). The accumulation of Gaucher cells can also lead to cirrhosis (shrinkage and hardening of the liver), scarring of the liver and other liver disorders. Some patients have an increased chance of forming gallstones.


Gaucher cells in the bones


In most patients, Gaucher disease has a certain influence on the bones. This is usually progressive and is one of the most undermining aspects of the condition.

The accumulation of Gaucher cells in the bone marrow can damage the bones in different ways. Due to the accumulation of Gaucher cells, blood flow can be reduced, bone tissue can be damaged (aseptic bone necrosis or avascular necrosis) and this can lead to permanent mobility problems.

The accumulation of Gaucher cells in the marrow can also lead to a reduction in bone mass (osteopenia). The minerals (calcium and phosphorus) that work together to keep the bones their strength and correct shape also work less effectively. Consequently, the bones can become more susceptible to infection, dilute and weaken, making them break more easily.

The damage to the bones in Gaucher disease can also lead to abnormal hardening (sclerosis) on the shaft of the bones, or to structural changes such as a flattening of the tip of the femur. For example, where healthy bone is characterized by a rounded shape, a bone affected by Gaucher disease may show a flattened shape at the end of the femoral head. This condition is called "Erlenmeyer flask deformity" since the resulting form of the bone resembles an Erlenmeyer flask, a scientific instrument. This unusual form indicates an abnormal formation of new bone in response to the presence of Gaucher cells in the marrow.


X-ray of femur with Erlenmeyer Flask Deformity

X-ray of normal femur


Compare these X-rays and clearly see the difference between a normal thigh and bones with "Erlenmeyer flask deformity". This deformation can be extremely painful or cause the patient to limp because the movement of the joints no longer runs smoothly.


Bone crises occur when a sudden lack of oxygen occurs in an area where Gaucher cells prevent normal blood flow. These episodes are characterized by intense, acute pain (some people describe it as "a heart attack in the bone") that can last for hours or even days. Bone crises are caused by a swelling in and around the bone (edema) and by a reduced blood supply to the bone (vascular occlusion).


Other possible symptoms
Delayed growth: children with Gaucher disease who are not treated, often grow slower than their peers. Delayed puberty often occurs in untreated girls. They often start to menstruate late in their teenage years.
Lack of appetite: an enlarged liver and / or spleen can press the stomach, so that people suffering from Gaucher disease feel satisfied after a few bites.
Intestinal complaints.


Three forms of Gaucher disease
Gaucher specialists divide the disorder into three categories: Type 1, 2, and 3. This classification is based on the specific symptoms and the course of the disease. The three forms have one thing in common: they can worsen over time (so they are progressive).

  • The type 1 Gaucher disease is the most common form and does not affect the nervous system. The course of Gaucher type 1 disease can be variable: some people have no symptoms and can lead a normal life, while others have many symptoms and symptoms that can even be life-threatening.
  • Types 2 and 3 of Gaucher disease are less common and affect less than 10% of all patients suffering from Gaucher disease. Types 2 and 3 of Gaucher disease are characterized by a neurological impact on top of the symptoms of Type 1. The neurological impact of Type 3 is less severe than with Type 2. A child suffering from Gaucher type 2 disease will usually notget  older than 2 years of age as a result of the serious impact on the nervous system. In people with Gaucher type 3 disease, the signs and symptoms may appear in early or late childhood; those who reach their adolescence usually live to the age of 30 to 40 years old.