Abstract
Mucopolysaccharidoses (MPS) are
inborn errors of metabolism caused by deficient lysosomal
enzymes, leading to organomegaly,
hip osteonecrosis, coarse facial features,
bone deformities,
joint stiffness, cardiac and pulmonary symptoms (MPS VI) or hypermobility (
MPS IVA). Some
patients may present with non-classical forms of the
disease in which osteoarticular
abnormalities are the initial symptoms of non-classical forms. As
orthopedists and
surgeons are the
specialists most frequently consulted before the
diagnosis, it is critical that MPS may be considered as a
differential diagnosis for
patients with
bone dysplasia. Experts in
Latin America reviewed
medical records focusing on
disease onset, first symptoms and the follow-up clinical and surgical outcomes of non-classical MPS VI and IVA
patients. All
patients displayed orthopedic issues, which worsened over
time, followed by cardiac and ophthalmological
abnormalities. Our findings enlighten the necessity of including non-classical MPS as possible
diagnosis for
patients who report osteoarticular
abnormalities in absence of
inflammation.