Type 1 Gaucher disease is a heterogeneous disorder – with some patients being without clinical manifestations, others being mildly affected, while others can be severely affected.
The reason for this heterogeneity is the fact that Gaucher disease can affect many different systems of the body, and to varying degrees.
In addition, the time to development of clinical symptoms can vary dramatically between patients – some with a rapid onset of clinically relevant symptoms and others with much slower progression.
Some Gaucher patients will never develop clinically visible symptoms, whilst in others (such as infants) the progression of disease can be very rapid.
A diagnosis of Gaucher disease is made by a combination of assessments:
Based on clinical suspicion (an assessment of a patient’s clinical symptoms and manifestations) the diagnosis is confirmed by enzymatic measurement of the glucocerebrosidase activity in the patient's cells, and genetic analyses.
In the past, Gaucher cell counts in bone marrow biopsies were used to confirm diagnosis, but this procedure is now obsolete.
Bone assessment (X-rays, MRI and Dexa), is extremely important, as bone manifestations are one of the most painful and debilitating components of the disease.