Rare Disease Report

Zachary Spigelman, MD: Diagnosing Gaucher Disease

FEBRUARY 04, 2016

The important thing to note is there’s a classic presentation at a young age which is low platelets, enlarged spleen, and bone pain. And knowing those three as initial presentation is important because the patients will likely have some form of pathology, mostly Gaucher’s. There are other disorders that cause that. The Gaucher’s itself when given those sort of diagnostic hints in surveys that have been looked at by hematologists, are not even thought of in the majority of differentials. When those three symptoms are given, we find that only one out of five hematologists will even include Gaucher’s in the differential. So it’s important to make sure that that strikes a note. More commonly, when they see an Ashkenazic-Jewish patient, they’ll begin to slowly put it in their differential, but it’s a pan-ethnic, pan-religious disease. Yes, the genes are enriched in Ashkenazics as they are in Norrbottian Swedish populations and other populations throughout the world. But yet, the studies that we are going to discuss will show that it’s much more common than initially thought.
Initial epidemiology suggests that 1 out of 40,000 who are non-Ashkenazic might have it, and perhaps 1 out of 800 to 900  will have it who are Ashkenazic Jews. But surprisingly these studies identified that it may be much more common. I think the issue is that it can be anywhere from a lethal disease to a very mild form of the disease in certain patients, and the cause of these variations, even with the exact same genetic profile, are unknown at the present time, the phenotypic change. And there have been twin studies looking at both twins with the same Gaucher’s-like phenotype which is the glucocerebrosidase mutation, the GBA mutation, and they’ll have totally different phenotypes, one perhaps severe and one not so severe. So we don’t know a lot right now about the stimulus for the phenotype. Nevertheless, if it’s in your mind, you may be able to find out that there are several patients within your population that have it.

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