Guidelines for Magnetic Resonance Imaging (MRI) Assessment of Gaucher Disease in adults

The Gaucher Disease Advisory Committee (GDAC) has asked that the following information be forwarded to treating doctors of Gaucher patients to assist in the assessment of these patients by radiologists following an MRI.

In this section:

In order to assess marrow changes in patients with Type 1 Gaucher disease, who are receiving enzyme replacement therapy, serial MRI's are requested at annual intervals. The aim is to compare features with the previous images to detect changes, which might suggest clearing of the accumulated metabolite from bone marrow cells during the course of therapy. The GDAC has arranged for central reading of MR images in addition to primary reading by the radiologist performing the MRI study. 'Guidelines for MRI assessment of Gaucher Disease in Adults" written by Patsy Robertson are attached. It is important that the MR examinations are conducted in a standard fashion so that serial central reading will provide objective information for assessing response to enzyme replacement therapy.

Guidelines for MR Assessment of Gaucher Disease in Adults.

Patsy Robertson, May 06

I prefer MR imaging for assessment and review of Gaucher patients as follows. Because changes occur slowly, yearly assessment is usually sufficient. This means that if patients have pain (?bone crisis, new fracture), they can have another MR assessment within Medicare guidelines during that same year.

1. Sagittal T1 and T2 weighted imaging of the lumbar spine (not fat-suppressed)

2. T1 weighted coronal and STIR imaging of the length of both femora.

a. STIR imaging is preferred over fat-suppressed T2 weighted imaging because there is often field inhomogeneity artifact with the latter because of the large FOV used. Gradient T2 weighted imaging is also more difficult to interpret in Gauchers.

b. Include from the hip joints to the tibial epiphyses.

Although hips to knees can be acquired in one FOV for short people, for most it is best to acquire from the hip joints to the distal femora in one sequence and from the knees to the distal tibia in another.

c. Include the length of the femur in one coronal image if possible.

This means using a sagittal scout so that the plane of the coronal images extends along the shaft of the femur.

d. Film T1 weighted images so that small vessels are visible in the subcutaneous fat.

3. For imaging review, save images to a CD in DICOM format. If this is not available, please make film copies for review.

Any queries, please feel free to contact Patsy Robertson at Patsy.Robertson@mh.org.au