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Background: Gaucher disease (GD) is a rare genetic disorder characterized by an abnormal accumulation of glucocerebroside in the cells of the phagocytic system due to an enzymatic deficiency in glucocerebrosidase. Although hematological involvement is usually the most common and severe, it is a systemic disease that can affect multiple organs such as the osteoarticular system.
Objectives: The aim of our study was to evaluate bone damage in GD and to assess the impact of enzymatic treatment on its evolution.
Methods: Retrospective descriptive study of the tunisian registry of GD patients aged above 16 years old treated in the two reference centers which are the internal medicine department of Mongi Slim University Hospital and pediatrics department of La Rabta University Hospital. Clinical, biological and imaging data was collected at diagnosis and after 2 years of substitutive treatment.
Results: Among 105 patients of the national registry, 74 were included. Forty-eight patients had bone involvement (64,9%), which was the third most frequent organ manifestation after hematological abnormalities and hepato/splenomegaly. Seven patients reported bone pain (23%). It was the first symptom revealing the disease for all of them. Twenty-two patients had elevated alkaline phosphatases (29,8%), among which, 14 had bone involvement. Fifty-six patients had at least one radiological bone assessment (75,7%). Standard skeletal X-rays were performed for 20 patients (27%) revealing femur deformity in Erlenmeyer flask shape in four patients and lytic bone lesions in two other patients for whom screening for malignancies was negative. Magnetic resonance imaging of the spine and lower limbs was performed for 27 patients (36%) revealing bone marrow infiltration in 19 patients as follows: right femur (n=16); left femur (n=14); lumbar spine (n=11); cervical spine (n=5); dorsal spine (n=5). Aseptic osteonecrosis was found on 6 patients MRI (22%). Forty-nine patients underwent Bone densitometry measurement (66%). It demonstrated osteoporosis in 7 cases (14%) and osteopenia in 17 others (35%). Osteoporosis was predominantly in the lumbar region. No fractures nor vertebral compression occurred. Bone densitometry mean scores were as follows: lumbar Z-score: -1,27 [-5,2;-3,8]; femoral Z-score: 0,52 [-1,2; 5,2]; lumbar T-score: -1,43 [-4,5;-4,3]; femoral T-score: 0,26 [-2,1;5,7]. Thirty-one patients received substitutive enzymatic treatment with either velaglucerase alfa (n=22; 59%) or imiglucerase (n=9; 24%) as part of a clinical trial or compassionate use. Five patients received phospho-calcium supplementation while 2 had bisphosphonate treatment. Substitutive enzymatic treatment was associated with improvement of bone pain and bone densitometry parameters at 2 years of treatment. Yet, this improvement was not statistically significant. Diffuse osteocondensation at the level of the lumbar spine and pelvis was found on the computed tomography scan after 2 years of treatment in a patient with a lumbar Z-score of 3.8 and a femoral site Z-score of 5.2 on bone densitometry. Screening for neoplasm was negative for her.
Conclusion: Bone involvement was frequent in our cohort with poor response to treatment. This can be explained by the late start substitutive treatment in our patients due to diagnosis and access to therapies delay. In fact, most studies suggest that the greatest effect is seen in younger subjects during the period when peak bone densitometry is accrued. Osteoarticular manifestations of GD mimic other osteosclerotic diseases that are more frequent, especially lymphoproliferative syndromes. Even though it’s rare, rheumatologists must always keep in mind this disease especially when other diseases are ruled out, especially in a context of consanguinity and a history of cytopenias.
REFERENCES: NIL.
Acknowledgements: NIL.
Disclosure of Interests: None declared.
© The Authors 2025. This abstract is an open access article published in Annals of Rheumatic Diseases under the CC BY-NC-ND license (