http://www.raredr.com/casestudies/diagnosing-gaucher-disease-in-adults/cryoglobuminemia-bone-pain
Zachary Spigelman, MD: Cryoglobuminemia and Bone Pain




It was interesting that people latched on to a lab result that came from the case study which, as it’s defined, it’s a patient with cryoglobulinemia. Cryoglobulinemia is classically in most American settings either a side effect of hepatitis C, or monoclonal gammopathy, or autoimmune disease. So you search for that, you search for that, and you search for that, and it was not found. And that’s suggesting, that what it really is, is a reflection of the immune stimulation brought on by the Gaucher’s cell. Most patients with Gaucher’s have very high levels of immunoglobulin, the protein that protect us from various bacteria, infectious organisms, and other potential invaders. However, the subsequent assessment of the patient also showed that these not only were high, these immunoglobulins, but there was a clonal population, meaning a potential thought of a malignancy like myeloma. When the Gaucher was treated, this was not the case. It turned out to be a reflection of the immune stimulation of the Gaucher’s disease. So, all in all, I think you’re dealing with many red herrings.
 
Now, are there reverse red herrings? Can you actually get a patient you think is Gaucher’s and actually not? And that can happen because the diagnostic finding in Gaucher’s for pathologic bone marrow assessment is the classic tissue paper cell called the Gaucher’s cell, very big, looks like you crumpled a piece of tissue paper and put a nucleus in it. Well, it turns out that cell is also reflective of an immune stimulatory effect and can be seen in TB, can be seen in myeloma, can be seen even in joint replacement sometimes, and therefore you can assume you saw it, and therefore, it was Gaucher’s case. That’s not necessarily the case. And, in Gaucher’s patients, you can have atypical cells with really very few of those cells or you sampled where they are atypical Gaucher’s cells and you don’t see them. So, if you’ve got the absolute triad or you’re very suspicious, look for the enzymatic testing and the dry blood testing.
 
First, is the classic triad that we spoke about which is, especially in pediatric patients, bone pain, spleen enlargement, and low platelets. That’s the classic Gaucher’s triad, but, as an adult, I believe this algorithm, that was defined by Pram Mistry and Marie Cappellini, is probably the next best thing in terms of sensing it. If they don’t have thrombocytopenia, if they absolutely don’t have the classic bone pain, and may not get it until your seventh decade sometimes, identifying splenomegaly and then screening appropriately, I think is the best approach clinically we now have. But the importance there is, it’s not difficult. It’s a blood-spot test. Call your local lab, ask for the appropriate filters, teach your lab people how to place it on the filter, send it in, and get the diagnosis. Albeit, a lot of them will not be true Gaucher’s patients, but we’ll be able to then get the more specific lymphocyte enzymatic testing or subsequent testing to prove it. But that is probably the best way at the present time.
Printer Printing...
$content$