ISSN (print) 1997-6933     ISSN (online) 2500-2139
Vol. 18 No. 1 (2025), RARE HEMATOLOGICAL TUMORS AND SYNDROMES
Vol. 18 No. 1 (2025)
RARE HEMATOLOGICAL TUMORS AND SYNDROMES

Bone Lesions in Adults with Gaucher Disease Type 1: Incidence, Clinical Features, Bone and Joint Complications, as well as Disability Issues

Published 01.01.2025
Vasilii Evgenevich Mamonov
National Research Center for Hematology, 4 Novyi Zykovskii pr-d, Moscow, Russian Federation, 125167
https://orcid.org/0000-0001-7795-4564
Yu.A. Chabaeva
National Research Center for Hematology, 4 Novyi Zykovskii pr-d, Moscow, Russian Federation, 125167
https://orcid.org/0000-0001-8044-598X
R.V. Ponomarev
National Research Center for Hematology, 4 Novyi Zykovskii pr-d, Moscow, Russian Federation, 125167
https://orcid.org/0000-0002-1218-0796
E.A. Lukina
National Research Center for Hematology, 4 Novyi Zykovskii pr-d, Moscow, Russian Federation, 125167
https://orcid.org/0000-0002-8774-850X
2025-1
PDF_2025-18-1-92-104 (Russian)

Keywords

adult Gaucher disease
bone involvement
orthopedic complications

How to Cite

Mamonov V.E., Chabaeva Y.A., Ponomarev R.V., Lukina E.A. Bone Lesions in Adults with Gaucher Disease Type 1: Incidence, Clinical Features, Bone and Joint Complications, as well as Disability Issues. Clinical Oncohematology. 2025;(1):92–104. doi:10.21320/2500-2139-2025-18-1-92-104.
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Abstract

BACKGROUND. Although highly effective enzyme replacement therapy (ERT) for Gaucher disease (GD) is accessible and affordable, orthopedic issues in patients appear often to be the main factor leading to their disability. Bone lesions are essentially observed in 100 % of GD patients. The nature and severity of bone and joint changes, however, are reported to be extremely heterogeneous, whereas their incidence and clinical features have until now remained underresearched.

AIM. To assess the incidence and clinical value of bone and joint lesions which complicate the course of GD type 1 with bone involvement.

MATERIALS & METHODS. This trial enrolled 267 GD type 1 patients aged 17–85 years (median 38 years), who were followed-up at the National Research Center for Hematology from 2004 to 2024. There were 109 men and 158 women. The analysis focused on the following MRI findings: bone marrow infiltration (BMI), Barnett-Nordin cortical index (BNI), bone deformity, osteolytic and osteonecrotic lesions, as well as orthopedic pathologies progressing to disability.

RESULTS. BMI was identified in 213/267 (79.8 %) patients. Erlenmeyer flask-like femoral expansion was observed in 95 % patients (n = 254). The mean BNI was 42.9 % (the normal BNI in adult population exceeds 45 %). Low BNI values were associated with osteolytic lesions, disability, and BMI. No significant association of decreased BNI was seen with osteonecroses. The incidence of osteolytic lesions was 11.2 % (n = 30). New osteolytic lesions were reported neither in ERT nor in substrate reduction therapy recipients. Medullary osteonecrosis was detected in 206/267 (77.15 %) patients, and epiphyseal osteonecrosis was identified in 74/267 (27.72 %) patients. Along with osteonecroses, in contrast to osteolytic manifestations, new lesions (n = 8) were reported to occur under long-term (> 5 years) ERT. The rate of bone fractures was 6.7 % (n = 18). In 18 patients, 64 fractures were observed at various locations. Disability associated with bone and joint complications of GD occurred in 58/267 (21.72 %) patients. After reconstructive surgery, including total articular replacement arthroplasties, 37 patients achieved complete functional recovery.

CONCLUSION. Bone changes are essentially observed in all adult patients with GD type 1. However, clinical severity and disability of patients depend on secondary bone and joint complications, among them arthroses resulting from epiphyseal osteonecrosis, pathologic fractures, bone and joint infections. These complications developing on effective ERT were identified in 67/267 patients, which accounted for 25 %.

PDF_2025-18-1-92-104 (Russian)

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