Zachary Spigelman, MD: Adult vs Pediatric Gaucher Disease
FEBRUARY 05, 2016
The presentation, when it’s diagnosed in a child, seems to be much more acute, much more severe. You can, although if you have a family that you’re aware of who might have it, you may find it asymptomatic in a child or when you have patients who have different phenotypic presentations, just like those twins we’ve just discussed, you may well see that it becomes mild in one and more severe in another. But, typically, when a physician diagnoses it, it’s due to the child’s bone pain, due to the child’s thrombocytopenia, due to the child’s spleen enlargement. They become uncomfortable, sick, and in pain, generally when they present to a doctor with no prior family history. The adult who presents with Gaucher’s tends to present more with the asymptomatic spleen, the asymptomatic thrombocytopenia. And then subsequently, assessments reveal that they might have bone infiltration of the disease.
Now, what is Gaucher disease? Gaucher disease is the deficiency of glucocerebrosidase. It can be partial or total, and the lack of that enzyme which is an enzyme that actually metabolizes lipids within the lysosome, will cause the back up of the lipids within the lysosome, filling up usually macrophages or cells that metabolize the lipids further and further to become larger, larger, and therefore infiltrate the spleens, bones, livers.
What’s interesting is that only about 2% or so of the spleen is made up of those cells, suggesting that it’s really the hormones or the cytokines that are spewed out by these cells that create the true phenotype. So it’s really never been looked at in terms of addressing directly into the hormones. We’ve always used enzymatic replacement, but certainly that may be the mediator of the pathology here.