British Journal of Radiology 75 (2002),A1 © 2002 The British Institute of Radiology
Introduction
B Bembi, MD
Burlo Garofolo Institute, Trieste, Italy
Gaucher disease is relatively rare, but, as the most frequent autosomal recessive sphingolipidosis, it is more widespread than is often appreciated. Because Gaucher disease affects the spleen, liver, bone marrow, skeleton, lungs, kidneys and central nervous system, initial diagnosis and subsequent monitoring can involve a range of physicians, including paediatricians, internists, haematologists, orthopaedic specialists, neurologists and radiologists. Radiological evaluation of bone involvement is particularly important for several reasons:
- Gaucher bone disease is associated with a diverse set of complications: marrow packing, failure of remodelling, osteopenia, osteonecrosis, osteosclerosis, bone crisis or other bone pain, osteomyelitis, pathological fracture and growth retardation.
- Severe radiological involvement is not necessarily associated with other clinical symptoms.
- Few, if any, reliable prognostic indicators of severity exist.
- If untreated, Gaucher bone disease has a variable rate of progression, to the point of becoming disabling.
- Gaucher bone disease can be stabilized or reversed with enzyme replacement therapy.
A Roundtable (supported through an educational grant from Genzyme Corporation) entitled "Skeletal Aspects of Gaucher Disease" was held in Trieste, Italy on 19 April, 2001, to describe and discuss the current radiological modalities for evaluating Gaucher bone disease and recent developments in improving these imaging methods. The meeting brought together some of the world's foremost researchers and clinicians in the field of Gaucher disease, including radiologists and paediatricians from the USA, Germany, Italy, Spain and The Netherlands.
The participants at the Roundtable shared their recent experiences in the radiological assessment of Gaucher bone disease and sought agreement on an optimum radiological monitoring protocol that is simple, non-invasive and practicable. The radiological variables that need to be studied in Gaucher disease and the timing of radiological assessments were considered. The best use of radiological methods to monitor the short-term and long-term response of bone disease to enzyme replacement therapy was discussed, as was the potential role of bone markers.
This BJR Supplement represents the key content of the presentations and discussions at the Roundtable. The observations on imaging methods and quantitative measurements of Gaucher bone disease add to our understanding of this disease and the response of skeletal complications to enzyme replacement therapy. We hope that the publication of this debate will stimulate new ideas on the radiological assessment of skeletal aspects of Gaucher disease.
