TY - JOUR
T1 - Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives
AU - Oussoren, Esmee
AU - Wagenmakers, Margreet A. E. M.
AU - Link, Bianca
AU - van der Meijden, Jan C.
AU - Pijnappel, W. W. M. Pim
AU - Ruijter, George J. G.
AU - Langeveld, Mirjam
AU - van der Ploeg, Ans T.
N1 - Publisher Copyright: © 2020 The Author(s)
PY - 2021/2/1
Y1 - 2021/2/1
N2 - The hips are frequently involved in inheritable diseases which affect the bones. The clinical and radiological presentation of these diseases may be very similar to common hip disorders as developmental dysplasia of the hip, osteoarthritis and avascular necrosis, so the diagnosis may be easily overlooked and treatment may be suboptimal. Mucopolysaccharidosis (MPS) and Mucolipidosis (ML II and III) are lysosomal storage disorders with multisystemic involvement. Characteristic skeletal abnormalities, known as dysostosis multiplex, are common in MPS and ML and originate from intra-lysosomal storage of glycosaminoglycans in cells of the cartilage, bones and ligaments. The hip joint is severely affected in MPS and ML. Hip pathology results in limitations in mobility and pain from young age, and negatively affects quality of life. In order to better understand the underlying process that causes hip disease in MPS and ML, this review first describes the normal physiological (embryonic) hip joint development, including the interplay between the acetabulum and the femoral head. In the second part the factors contributing to altered hip morphology and function in MPS and ML are discussed, such as abnormal development of the pelvic- and femoral bones (which results in altered biomechanical forces) and inflammation. In the last part of this review therapeutic options and future perspectives are addressed.
AB - The hips are frequently involved in inheritable diseases which affect the bones. The clinical and radiological presentation of these diseases may be very similar to common hip disorders as developmental dysplasia of the hip, osteoarthritis and avascular necrosis, so the diagnosis may be easily overlooked and treatment may be suboptimal. Mucopolysaccharidosis (MPS) and Mucolipidosis (ML II and III) are lysosomal storage disorders with multisystemic involvement. Characteristic skeletal abnormalities, known as dysostosis multiplex, are common in MPS and ML and originate from intra-lysosomal storage of glycosaminoglycans in cells of the cartilage, bones and ligaments. The hip joint is severely affected in MPS and ML. Hip pathology results in limitations in mobility and pain from young age, and negatively affects quality of life. In order to better understand the underlying process that causes hip disease in MPS and ML, this review first describes the normal physiological (embryonic) hip joint development, including the interplay between the acetabulum and the femoral head. In the second part the factors contributing to altered hip morphology and function in MPS and ML are discussed, such as abnormal development of the pelvic- and femoral bones (which results in altered biomechanical forces) and inflammation. In the last part of this review therapeutic options and future perspectives are addressed.
KW - Acetabulum
KW - Bone disease
KW - Dysostosis multiplex
KW - Embryonic development
KW - Femoral head
KW - Hip disease
KW - Joint disease
KW - ML
KW - MPS
KW - Mucolipidosis
KW - Mucopolysaccharidosis
KW - Osteoarthritis
KW - Skeletal disease
UR - http://www.scopus.com/inward/record.url?scp=85094900372&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.bone.2020.115729
DO - https://doi.org/10.1016/j.bone.2020.115729
M3 - Review article
C2 - 33130340
SN - 8756-3282
VL - 143
JO - Bone
JF - Bone
M1 - 115729
ER -