Morbus Gaucher a diagnostic challenge

Morbus Gaucher is an inherited disease of fat deposition caused by autosomal recessive defect in the gene encoding enzyme β-glucocerebrosidase, responsible for accumulation glucosylceramides reticuloendothelial cells, turning this multidimensional into a debilitating and are found mainly spleen, liver, bone marrow rarely lung. The level glucocerebrosidase enzymatic activity patients with seen to reach around 5–25% normal activity. Measurement leukocytes or cutaneous fibroblasts considered “Gold Standard” diagnosis. Although most common lysosomal it remains rare cases present gradual installation clinic which explains delay It very important include as possible diagnosis splenomegaly / thrombocytopenia. study, "Predicting probability subjects thrombocytopenia," published Scientific Reports, managed reconstruct diagnostic algorithm that identify relationship between platelet count, ferritin transferrin saturation, thus making achieve approach regarding GD, sake truth continues be undiagnosed misdiagnosed pathology.