Gaucher’s disease can occur in different forms, types I to III are distinguished. What symptoms are characteristic of each type of fat storage disease and what is the life expectancy? You can read about that here.
Incidence of Gaucher disease
The most common form is Gaucher disease type I, with an incidence of 1 in 40,000. The disease can occur in early childhood, but can also occur in adulthood and is chronic.
What are the symptoms?
There are different forms of the disease. They differ in terms of when the disease first appears, central nervous system involvement, and life expectancy.
Probably the most typical feature is enlargement of the spleen, which can swell up to twenty times its normal size, and/or the liver. The enlarged spleen is often the first indication of the disease and can be detected in babies as young as six months of age. Splenic enlargement also leads to increased breakdown of blood cells, causing anemia and increasing the tendency to bleed. Most patients experience increased bruising.
Bone changes (regression of bone mass, disturbed bone structure, deformations, destruction of bone tissue, fractures) can occur at any age. They are usually accompanied by painful “bone crises”. They are triggered when a sudden lack of oxygen occurs at sites where Gaucher cells disrupt normal blood flow.
General bone and joint pain is probably caused by inflammation of the skeleton, due to the presence of Gaucher cells. If the disease begins in childhood, there is often delayed growth and failure to thrive.
Other symptoms include:
- Swelling of the lymph nodes
- Brownish discoloration of the skin
- Bloated abdomen
- Yellow fat deposits in the eye (on the sclera)
- Impaired liver function
Type forms of Gaucher’s disease
Gaucher disease type II is a very rare and rapidly progressing form of the disease, which involves the central nervous system, but also all organs affected in type I. Due to severe complications of the central nervous system, affected children die within the first two years of life.
Gaucher disease type III is characterized by gradual damage to the nervous system. It manifests itself in a progressive deterioration of mental abilities. Although this form has a milder course than type II, affected individuals rarely reach the third decade of life.
Additional general symptoms
Most Gaucher patients are plagued by a general decrease in performance, fatigue, and lack of interest. This is due on the one hand to changes in the blood count, but also to increased energy consumption, the causes of which are not yet known.
In addition, patients often have little appetite. The enlargement of the spleen and liver ensure that increased pressure is constantly exerted on the stomach. Even the smallest amounts of food evoke a strong feeling of satiety in those affected.
Important to know: Not everyone who genetically has the condition will become symptomatic; some people are symptom-free throughout their lives or have only a mild course.
