Bone and joint complications related to Gaucher disease

Abstract

There is a broad spectrum of Gaucher disease-related skeletal complications, ranging from asymptomatic osteopenia to osteonecrosis (of the shoulders and hips) with secondary degenerative joint disease. Characterization of the pattern and severity of bone involvement in the individual patient requires the application of conventional and advanced radiographic techniques. The introduction of enzyme replacement therapy (ERT) for this inborn error of glycosphingolipid metabolism has focused great interest in determining the nature and extent of the bone responses with this mode of treatment. The multifactorial etiology of the bone complications necessitates a multifaceted approach, combining pharmacologic strategies with physical therapy and orthopedic intervention. As bone disease can lead to chronic pain and debility with a resultant adverse impact on quality of life, it is important that patients be monitored closely and that early intervention with ERT prior to established bone disease (infarction and fibrosis) be considered.

Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients

“…A major benefit of MRI is that it can image the bone marrow cavity without distortion from surrounding bone. MRI can also be used to image bone infarction, bone crises, and osteonecrosis, but it is not quantitative (Pastores et al 2000). On the other hand, plain radiography has the benefits of being relatively inexpensive and probably more widely available than any other radiological imaging technique; it can be used to image some but not all the skeletal pathology in patients with Gaucher disease (Maas et al 2002).…”

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

“…Orthopaedic surgical procedures are often needed to maintain function in patients with skeletal manifestations of Gaucher disease [8,34,36,38,42]. Pathological fractures may require surgical immobilisation and restoration.…”

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross‐sectional national survey

“…Although pain has been documented in detail for other lysosomal storage disorders -such as Fabry and Gaucher disease, in which the pathophysiologic origin of pain is more evident (Burlina et al 2011;Pastores et al 2000) -we know of few studies of pain in MPS. To date, these have used pain mainly to study the effects of enzyme-replacement therapy in specific types of MPS (Harmatz et al 2005;Clarke et al 2009); none included intellectually disabled patients or patients who underwent HSCT.…”