Gaucher's disease - symptoms

Occurrence of Gaucher's disease

The most common form is Gaucher type I disease, with a prevalence of 1:40 000. The disease can occur in early childhood, but also in adulthood and is chronic.

Which symptoms occur?

There are different forms of the disease. They differ in the time when the disease first appears, the involvement of the central nervous system, and life expectancy.

The most typical feature is an enlargement of the spleen, which can swell up to twenty times its normal size, and / or the liver. The enlargement of the spleen is often the first indication of the disease and can be detected in babies at the age of six months. The enlargement of the spleen also leads to an increased reduction of blood cells, which causes anemia (anemia) and increases 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. Most of them are accompanied by painful "bone crises". They are triggered when oxygen deficiency suddenly occurs at sites where Gaucher cells interfere with 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, it often comes to a delayed growth and failure to thrive.

Type forms of Gaucher's disease

Gaucher disease type II is a very rare and rapidly progressive form of the disease, involving the central nervous system, but also all organs affected by type I. Severe complications of the central nervous system cause the affected children to die within the first two years of life.

Gaucher disease type III is characterized by creeping damage to the nervous system. It manifests itself in a progressive depletion of mental faculties. Although this form has a milder course than Type II, those affected rarely reach the third decade of life.

Additional general symptoms

Most Gaucher patients suffer from general disability, fatigue and disinterest. This is partly due to the changes in the blood picture, but also an increased energy consumption, whose causes are not yet known. In addition, patients often have little appetite. The enlargement of the spleen and liver ensure that an increased pressure is constantly exerted on the stomach. Even the smallest amounts of food cause a strong feeling of satiety in those affected.

Important to know: Not everyone who is genetically aware of the disease gets symptoms, some people are symptom-free throughout their lives or have only a mild course.

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