Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients.
BACKGROUND
Bone disease is a serious complication of Gaucher disease. Untreated, it can result in pain, permanent bone damage and disability. Enzyme replacement therapy reverses many of the clinical signs of Gaucher bone disease but early assessment and treatment, and regular monitoring, are essential in optimising outcomes.


METHODS
In September 2005, a group of European experts met to review current knowledge and identify best practice and unmet needs in the monitoring of Gaucher bone disease and the response to enzyme replacement therapy.


METHODS
Medline searches of peer-reviewed literature (no date restrictions) were conducted and supplemented by additional information considered relevant by panellists to furthering discussions.


CONCLUSIONS
The group's recommendations included: currently used biochemical bone markers are not clinically practical or reliable; plain X-rays should not be the sole method of assessing bone disease; MRI is the most sensitive method for monitoring bone marrow infiltration by Gaucher cells; semi-quantitative methods for assessing bone marrow infiltration in routine clinical practice should use readily available technology, include an assessment of Gaucher cell infiltration in the lumbar spine and femur, and be validated for inter-rater reliability and in comparison to other methods; a multidisciplinary approach is required for the treatment of Gaucher patients; all Gaucher patients should receive a comprehensive initial radiologic evaluation for bone disease and ongoing radiological monitoring at least once every 2 years.
Vom Dahl
Stephan
S
Department of Internal Medicine, St Franziskus Hospital, Cologne, Germany. s.vomdahl@st-franziskus-koeln.de
Poll
Ludger
L
Di Rocco
Maja
M
Ciana
Giovanni
G
Denes
Carmencita
C
Mariani
Giuliano
G
Maas
Mario
M
D015502:Absorptiometry, Photon / Q000379:methods; D015415:Biomarkers / Q000378:metabolism; D001847:Bone Diseases / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000209:etiology / Q000378:metabolism; D005269:Femur / Q000000981:diagnostic imaging*; D005776:Gaucher Disease / Q000150:complications / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000378:metabolism; D006287:Health Planning Guidelines; D006801:Humans; D008161:Lumbosacral Region / Q000000981:diagnostic imaging*; D008279:Magnetic Resonance Imaging; D008991:Monitoring, Physiologic / Q000379:methods
D015415:Biomarkers