Researchers found that combining a new, noninvasive technique called trabecular bone score (TBS) with bone mineral density techniques helps to better identify Gaucher disease patients at increased risk for bone fractures.
The study, “Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density,” was published in the journal Blood Cells, Molecules & Diseases.
Bone problems are common in patients with type 1 Gaucher disease, including deformities, osteopenia (decreased bone density), osteoporosis (bone fragility), pathological fractures, and bone marrow infiltration by abnormal tissue.
Enzyme replacement therapy (ERT) currently is the most common treatment for Gaucher disease patients. While ERT has shown to improve or sometimes even reverse several of the disease’s symptoms, its effects on bone disease vary considerably.
“[ERT] has been demonstrated to be effective in reducing bone crisis, pain and infarction, all complications associated with bone marrow infiltration, whereas the improvement of bone mineral density (BMD) can require a very long treatment span,” the study’s authors wrote.
The use of techniques to accurately estimate the severity of bone disease is another important issue for better understanding Gaucher disease. Several imaging techniques have been used in the past. Two densitometric (DXA) tools recently were found to effectively evaluate bone quality in several bone metabolic diseases. However, their potential for use in Gaucher disease had not been established.
In this study, the authors proposed to identify Gaucher disease patients at higher risk for bone complications and to evaluate the effectiveness of new DXA-based techniques, particularly the assessment of bone microarchitecture and geometry.
They used noninvasive DXA-based techniques — TBS and Hip Structural Analysis (HSA) — to assess bone quality in 23 patients with type 1 Gaucher disease, who at baseline had received ERT for an average of seven years.
The analysis showed that bone microarchitecture and proximal femur geometry were significantly worse in patients with pathological fractures and avascular osteonecrosis — a condition in which bone tissue begins to die due to blood loss in the bone. In contrast, assessing only bone mineral density, and not bone quality, did not allow for these groups to be differentiated.
Overall, the study’s results support “the potential usefulness of the combined evaluation of TBS and bone mineral density in identifying GD patients suffering from severe skeletal involvement, which are at increased risk of pathological fractures and avascular osteonecrosis,” the authors concluded.