KK, Sousa T., J Am Acad Orthop Surg. 2013 Jan;21(1):12-22. doi:
10.5435/JAAOS-21-01-12. PMID: 23281467
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.
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 email@example.com
or firstname.lastname@example.org .