How is Gaucher's disease diagnosed?
The diagnosis is actually 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 means of blood test
In Gaucher patients, the enzyme activity is greatly reduced. The exact diagnosis of Gaucher disease is made by a blood test that determines the activity of glucocerebrosidase.
However, these tests can only be carried out in a few specialized laboratories in Germany. In order to confirm the findings and to analyze the gene change in more detail, a Gent test is usually performed in addition.
Who should be examined?
Since Gaucher disease is a genetic disease, all close blood relatives are at risk of having the disease or are carriers of the "Gaucher gene". Gaucher disease is inherited as an autosomal recessive trait.
Autosomal means that the genetic information for the engineered enzyme is not on a sex chromosome.
Recessive means that the disease only comes to the onset when two altered genes - from each parent one - are simultaneously passed on to the offspring. The parents are in most cases only transmitters themselves (they each have a modified and an unchanged gene) and therefore not ill. But they can make their own children to transmitters or both pass on their defective gene, resulting in the affected child to the disease.
In order to estimate the risk to their offspring, parents may seek genetic counseling, including the creation of a family tree.