Although Gaucher disease is not difficult to diagnose, symptoms are often not recognized as indicative of the disease and, as a result, the disease is not diagnosed. How is the diagnosis made and who may inherit the genetic predisposition? Find out below.
How is Gaucher disease diagnosed?
The diagnosis is actually not difficult to make: Examination of the bone marrow and special blood tests provide clear clues. The difficulty, however, is that the attending physician must first consider this rare disease. This is because many of the symptoms can easily be attributed to other diseases.
Diagnosis by blood test
In Gaucher patients, enzyme activity is severely reduced. The exact diagnosis of Gaucher disease is made by a blood test in which the activity of glucocerebrosidase is determined.
However, these tests can only be performed in a few specialized laboratories in Germany. To confirm the findings and analyze the gene alteration in more detail, a gene test is usually also performed.
Who should get tested?
Because Gaucher disease is a genetic disorder, 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 located on a sex chromosome.
- Recessive means that the disease only comes to fruition when two altered genes – one from each parent – are passed on to offspring at the same time. Although in most cases the parents themselves are only carriers (they each have one altered and one unaltered gene) and thus do not become ill. However, they can make their children carriers themselves or both pass on their defective gene, which leads to the disease in the affected child.
To assess the risk to their offspring, parents can seek genetic counseling, which includes a family pedigree.
