MR imaging in adults with Gaucher disease type I: evaluation of marrow involvement and disease activity

Abstract

An investigation was conducted to determine the usefulness of magnetic resonance imaging (MRI) in the evaluation of bone marrow involvement in patients with Gaucher disease type I. T1- and T2-weighted images were obtained of the lower extremities of 29 adult patients. Patients were classified into one of three groups based on marrow signal patterns on T1- and T2-weighted images as well as change in signal intensity from T1- to T2-weighted images. An increase in signal intensity from T1- to T2-weighted images was the criterion for an "active process" within the bone marrow. Classification of the 29 patients produced the following results: group A: normal, 4 patients; group B: marrow infiltration, 16 patients; group C: marrow infiltration plus active marrow process, 9 patients. Correlation with clinical findings revealed that all nine patients with evidence of an active marrow process on MRI (group C) had acute bone pain. Conversely, only one of the remaining 20 patients (groups A and B) had bone pain. There was no correlation between disease activity and findings on conventional radiographs. We conclude the MRI provides an excellent noninvasive assessment of the extent and activity of marrow involvement in type I Gaucher disease.

Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis

“…MR imaging is the preferred modality, due to its sensitivity for the detection of both focal and diffuse disease. [37][38][39] Ideally, quantification is done by fat fraction measurements of the lumbar spine obtained through the use of Dixon QCSI, 40,41 which shows a close correlation with the occurrence of clinical complications. 31 However, since QCSI is not widely available and vertebral MRI was not performed in the HHU cohort, in this study, we resorted to use the BMB 30 of the femora, a semiquantitative scoring system that is significantly correlated to QCSI.…”

Bone and joint complications related to Gaucher disease

“…Bright signals on T2-weighted images during an acute bone pain episode may indicate fluid or blood within the medullary cavity occurring as a response to bone ischemia or venous obstruction [20,21]. Complications such as osteomyelitis and intra-osseous or subperiosteal hemorrhage also may lead to a bright signal on T2-weighted images [22].…”

56-jährige Patientin mit pathologischer subkapitaler Humerusfraktur bei Morbus Gaucher

“…Die aufwendigste, aber als einzige quantitative Methode ist die MR-Messung des Fettanteils im Knochenmark QCSI (quantitatives chemisches Shift-Imaging [2,4]). …”

“…Das Therapiemonitoring erfolgt 3-, später 6-bis 12-monatlich laborchemisch über die Chitotriosidase (korreliert mit dem gespeicherten Glucocerebrosid) und jährlich radiologisch mittels MRT (Verän-derungen der unteren Extremität/LWS), [2,3,4].…”