http://www.raredr.com/casestudies/diagnosing-gaucher-disease-in-adults/zachary-spigelman-md--61-year-old-white-male-with-skin-rash-and-thrombocytopenia
Zachary Spigelman, MD: 61-year-Old White Male with Skin Rash and Thrombocytopenia





I was presented with a case of a middle-aged man who had progressive difficulty with bruising and some early satiety. The patient actually had, at the initial exam, a palpable spleen, but he was told that he had low platelets for almost 10 years and counting. He didn’t have any significant history of any prior aspirin use or anticoagulant use, and he never really had bone pain per se. Over time, he eventually went on atorvastatin and aspirin later on, and he was asked to be assessed for the rash and the low platelet count. The patient was assessed physically by his primary physician, and identified that he had basically a normal ENT exam. He had clear lungs. The most identifiable findings were the fact that he had an enlarged spleen and significant macular rashes over his trunk and extremities.
 
There are several things you can start with; either the rash, the low platelets, or the spleen. Splenomegalic disease is typically in the younger population, mostly infectious, CMV, mono, the hepatitides. As we get into the older patients, splenomegaly becomes more likely to become hematologic and pathologic. However, there is a population that progresses with it from birth, and that can be patients with blood disorders, genetic deficiencies in enzymes, and issues with genetic circulatory changes. So, it’s important to broaden your differential when you’re presented with patients with splenomegaly.
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