Gaucher’s disease – diagnosis and examination

Although Gaucher’s disease is not difficult to diagnose, the symptoms are often not recognized as an indication of the disease and, consequently, not interpreted. How is the diagnosis carried out, and who can inherit the genetic predisposition? Find out below.

How is Gaucher’s disease diagnosed?

The diagnosis is not difficult to make: the examination of the bone marrow and special blood tests give clear indications. The difficulty, however, is that the treating physician must first consider this rare disease because many of the symptoms can also be easily assigned to other diseases. 

Diagnosis by blood test

Enzyme activity is significantly reduced in Gaucher patients. The exact diagnosis of Gaucher’s disease is determined by a blood test, in which glucocerebrosidase activity is determined. 

However, these tests can only be carried out in a few specialized laboratories in Germany. A genetic test is usually also carried out to confirm the finding and analyze the gene mutation in more detail.

Who should be examined?

Since Gaucher disease is a genetic condition, all close blood relatives are at risk of having the disease or being carriers of the “Gaucher gene”. Gaucher disease is inherited in an autosomal recessive manner:

• Autosomal means that the genetic information for the altered enzyme is not on a sex chromosome.
• Recessive means that the disease only breaks out when two altered genes – one from each parent – ​​are passed on to the offspring simultaneously. In most cases, the parents are only carriers (each has one modified and unchanged gene) and are not ill. However, they can turn their children into carriers themselves or both pass on their defective genes, which leads to the disease in the affected child.

To assess the risk for their offspring, parents can take advantage of genetic counselling, in which, among other things, a family tree is drawn up.