Morbus Gaucher a diagnostic challenge

Abstract

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