Radiological and morphological characteristics of the femoral head osteonecrosis in type I Gaucher disease

BACKGROUND: Osteonecrosis of the femoral head in Gaucher disease type I is an irreversible bone manifestation of the disease. The cause and mechanisms of osteonecrosis in Gaucher disease are still unknown, and their clinical and radiological characteristics must be taken into account when choosing treatment strategy. AIM: To analyze the radial and morphological changes in the proximal femur after osteonecrosis of the femoral head in type I Gaucher disease. MATERIALS AND METHODS: The study included 251 adult patients with type I Gaucher disease from the Russian National Registry; histological examination of 22 removed femoral bone fragments obtained during total hip replacement in 20 patients with Gaucher disease and 9 in patients of the control group was performed. RESULTS: Aseptic necrosis of the femoral head was found in 30% adults with Gaucher disease, and in 20% patients it was associated with femoral head collapse. Osteosclerosis of the cancellous bone of the metaphysis, enlargement / swelling of the medullary cavity with secondary osteopenia and osteoporosis of the proximal femoral diaphysis often accompanied osteonecrosis of the femoral head, causing technical difficulties during surgery. The histological findings revealed a picture of chronic bone tissue ischaemia of the proximal femoral metaphysis, which was confirmed by the detection of widespread areas of osteosclerosis on radiography and MRI. Bone marrow infiltration by Gaucher cells in histological preparations persisted regardless of the duration of enzyme replacement therapy against the background of preserved regenerative potential of bone tissue. CONCLUSIONS: The features of the radiological, MRI and histological picture should be taken into account when planning and performing orthopaedic surgery for aseptic necrosis of the femoral head in patients with type I Gaucher disease.