Gaucher Disease: A Honduran case with genetic confirmation

Abstract

Background: Gaucher Disease is a lipid storage disease caused by the accumulation of the glycolipid glucocerebroside in cells of the macrophage system due to a deficiency of glucocerebrosidase enzyme. Three major forms of the disease have been described. It has a worldwide prevalence of 1 case in 40,000-60,000 to 100,000 births, and in askenazi jewish heritage incidence is as high as 1 in 850 individuals. Definite diagnosis is obtained through direct observation of Gaucher Cells in bone marrow and genetic confirmation of the mutations in chromosome 1q21.31. Case Description: 30 years old female patient with a history of 4 months of hepato-splenomegaly, leukopenia, neutropenia and thrombocytopenia. Laboratory workup confirmed hematologic alterations. Gaucher Cells were observed in bone marrow biopsy. Exon 4 and Exon 10 heterozygous variants were confirmed in chromosome 1q2. Patient was treated with folic acid 5 mg daily and multivitamins. She is candidate for Enzyme Replacement Therapy with imiglucerase, but this treatment is not available in Honduras due to its high price. Nowadays, follow up continues 5 years from clinical debut. Conclusion: Honduras´ local incidence is still unknown and since GD is a complex diagnosis to be made in primary health care, most cases could remain undetected. Metabolic diseases are a real challenge in our health care system due to limited access to quality health care and few specialized physicians able to diagnose complex metabolic diseases. Genetic confirmation is not available. One of the strengths of this case report is a complete diagnostic work up including genetic confirmation.