White KK, Sousa T., J Am Acad Orthop Surg. 2013 Jan;21(1):12-22. doi: 10.5435/JAAOS-21-01-12. PMID: 23281467
UW Orthopaedics and Sports Medicine faculty, Klane White, and resident, Ted Sousa, published a review article about a rare family of genetic disorders, mucopolysaccharidoses (MPSs). There are seven distinct types of MPS that show similar clinical symptoms but range in severity. MPSs are disorders characterized by the cell’s inability to degrade glycoaminoglycans (GAGs), long chains of sugar molecules that are the normal byproducts of cells. This inability is attributed to the lack of or malfunction of lysosomal enzymes that normally serve to break these byproducts down. Since the body is no longer able to break down GAGs, these accumulate in cells, disrupt normal cellular function and have a system wide effect on mental development, physical appearance and organ function.
According to the authors, skeletal abnormalities are early and prominent features of MPS, and the orthopaedic surgeon is often the first healthcare provider to raise suspicion for this diagnosis. So it is important for orthopaedic surgeons to have a basic understanding of the common clinical presentations (especially muscoskeletal) the pathophysiology, and radiographic findings associated with MPS. Current treatment is available for MPS, and although most have led to increase the lifespan of a patient, they have not had much effect on the development of skeletal deformities.
For the full article, view the January 2013 edition of the Journal of the American Academy of Orthopaedic Surgeons or contact the authors directly klane.white@seattlechildrens.org or tedsousa@uw.edu .