Rare Disease Report

Zachary Spigelman, MD: Delayed Diagnosis Common in Gaucher Disease

FEBRUARY 05, 2016

The diagnosis is usually delayed months to years in Gaucher disease, and that’s because there are so many differential diagnoses that people pick up that might fit the bill. You can get classic ITP which is immune thrombocytopenia purpura. You can get vascular disease, infection, certainly the aches of pains of a severe mono can mimic it, but usually not for that long, hemochromatosis, various cirrhotic issues that cause enlargement of the spleen.
We have a myriad of diagnoses that could possibly diagnose for similar components of it. Malignancies, splenic malignancies will cause splenic enlargement and sometimes thrombocytopenia because they infiltrate the bone marrow as well. So, we always worry more about other diagnoses because of the urgency, but then the patients are left asunder. If they’re not malignant, if they don’t have a life-threatening diagnosis, they’re then let to follow up with their other physicians who sort of then depended on the hematologist to address it to begin with. They grow older. More of their issues, such as chronic bone discomfort, and bone destruction, and decreased ability to ambulate occur. So, in those side effects of bony destruction and subsequent infiltration of other organs, even lungs causing pulmonary hypertension, can occur unbeknownst and they’re irreversible. So the importance of diagnosing it early and moreover, then you’re not only diagnosing one person, you’re diagnosing a family. And that’s the key, is you’re going to address several people, rather than one when these are diagnosed correctly.

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