It’s important to broaden your differential when you’re presented with patients with splenomegaly.
You may be able to find out there are several patients within your population that have it.
The presentation, when it’s diagnosed in a child, seems to be much more acute, much more severe.
The diagnosis is usually delayed months to years in Gaucher disease
There’s a great deal of Ashkenazic/non-Ashkenazic mixture now that is missed. It’s important to go back three generations in the family history.
Will the genetics supersede the enzymatic which will supersede the phenotypic test?
Cryoglobulinemia is classically, in most American settings, either a side effect of hepatitis C, monoclonal gammopathy, or autoimmune disease.