Introduction: Gaucher disease (GD1) is caused by the enzymatic deficiency of β-glucocerebrosidase. This leads to accumulation of sphingolipids in organs, such as the liver, spleen, and bone marrow. Bone involvement is frequent in GD1, causing pain, necrosis and even fractures or growth deficits in children, leading to painful surgeries and progressive decrease in quality of life.
Methodology: A non-experimental retrospective observational study was performed using a database of 30 patients with clinical suspicion and enzymatic and/or molecular confirmation of GD1; the numbers and percentages of occurrence for each sign were determined.
Results: Bone pain was the most common symptom and was reported in 23% of the sample. 13/30 (43%) patients had report of at least one radiograph requested during the study : 6 of them, with some bone alteration, being the most frequent : increases in acetabular coverage with signs of femoroacetabular impingement, decrease in height and morphology and Erlenmeyer deformity; 14/30 (48%) of the patients presented at least one result of Magnetic Resonance Imaging (MRI); in the femur MRI of 4 patients there was a decrease in the signal intensity of the bone marrow, both in T1 and T2 sequences, involving various bone areas and changes of infiltrative bone disease; finally in 7/30 (7. 5%) presented at least one bone densitometry result (DEXA): 3 presented low bone mineralization. The patients who present the p. Asn409Ser allele may present more predisposition to bone disease.
Conclusion: The present study highlights the importance of early diagnosis, to access timely treatment, to prevent bone complications typical of the disease, improving prognosis, quality of life and morbi-mortality in GD1.
