Abstract
Introduction: Lysosomal storage disorders are a rare group of diseases with genetic origin in which Gaucher Disease (GD) stands out as the most frequent. GD type 1 is the most common form of this condition, and patients with this pathology present with unexplained cytopenias, in addition to hepatosplenomegaly, bone involvement, and in other cases neurological disorders. A case of a patient is presented, whose results showed thrombocytopenia and leukopenia in addition to hepatosplenomegaly. In Latin America, there are very few reported cases of this clinical entity, and information on this disease is very limited. Case: We present a case of a patient diagnosed with GD, who presented with thrombocytopenia and leukopenia in addition to hepatosplenomegaly, with the aim of emphasizing the importance of early recognition of this pathology, especially in patients with unexplained cytopenia’s or hepatosplenomegaly’s. In suspicion of GD, enzymatic quantification of β-glucocerebrosidase was performed, showing its deficit in addition to alteration in the GBA gene. Unfortunately, enzymatic replacement could not be done because the Cerazyme (imiglucerase for injection) is not available in Ecuador. Nevertheless, the patient was treated with analgesic (1g of paracetamol generally three times a day) and vitamin supplements (Dayamineral). Currently the patient is waiting for transfer to a foreign institution; she continues with bicytopenia and hepatosplenomegaly, her conditions are expected to be remit once the enzymatic treatment has been administered. Conclusion: We believe that the timely recognition of this disease will allow the initiation of enzymatic replacement therapy in an effective manner, in order to reduce morbidity and improve the clinical aspects of the patient.
Highlights
Lysosomal storage disorders are a rare group of diseases with genetic origin in which Gaucher Disease (GD) stands out as the most frequent
Lysosomal deposit disorders constitute a rare group of recessive hereditary monogenic diseases, resulting from the abnormal accumulation of non-degraded material in the lysosomes of different cells of the organism, as a result of the total or partial functional loss of specific lysosomal enzymes or cofactors involved in the degradation of these materials; the resulting lysosomal dysfunction leads to cell dysfunction and clinical anomalies[1]
The most common lysosomal storage disease is Gaucher disease (GD), with an estimated frequency of 1:40.000 to 1:86.000 inhabitants in the general population, except for the Jewish Ashkenazi ethnic group were it is estimated to be 1:850 births[2], characterized by the defective function of the catabolic β-glucocerebrosidase enzyme, which leads to an accumulation of glucocerebroside in the lysosomes of different cells[3], causing pancytopenia, hepatosplenomegaly, bone involvement and, sometimes neurological alteration[4]
Summary
Weinreb , Department of Human Genetics and Medicine (Hematology), UHealth Sylvester Coral Springs, Coral Springs, USA. Any reports and responses or comments on the article can be found at the end of the article. Keywords Gaucher disease, lysosomal storage disorders, cytopenia, βglucocerebrosidase
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