Hip pathologies in mucopolysaccharidosis type III
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Hip pathologies in mucopolysaccharidosis type III. / Breyer, Sandra Rafaela; Vettorazzi, Eik; Schmitz, Leonie; Gulati, Amit; von Cossel, Katharina Maria; Spiro, Alexander; Rupprecht, Martin; Stuecker, Ralf; Muschol, Nicole Maria.
In: J ORTHOP SURG RES, Vol. 16, No. 1, 201, 19.03.2021.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Hip pathologies in mucopolysaccharidosis type III
AU - Breyer, Sandra Rafaela
AU - Vettorazzi, Eik
AU - Schmitz, Leonie
AU - Gulati, Amit
AU - von Cossel, Katharina Maria
AU - Spiro, Alexander
AU - Rupprecht, Martin
AU - Stuecker, Ralf
AU - Muschol, Nicole Maria
PY - 2021/3/19
Y1 - 2021/3/19
N2 - BACKGROUND: Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MPS III patients. The purpose of this study was to describe hip pathologies and influencing parameters in MPS III patients.METHODS: A retrospective chart review was performed for 101 MPS III patients. Thirty-two patients met the inclusion criteria of enzymatically or genetically confirmed diagnosis and anteroposterior radiograph of the hips. Modified Ficat classification, Wiberg's center-edge angle, and Reimer's migration percentage were measured.RESULTS: The mean age at data assessment was 11.0 years (SD 5.7). Osteonecrosis of the femoral head was observed in 17/32 patients. No statistically significant association was found between these changes and age, sex, or MPS III subtype. Patients with a severe phenotype showed significantly higher rates of osteonecrosis (14/17) than patients with an intermediate phenotype. Hip dysplasia was present in 9/32 patients and was significantly associated with osteonecrosis of the femoral head (p = 0.04).CONCLUSIONS: The present study demonstrates a high rate of hip pathologies in MPS III patients. Hip dysplasia and severe phenotype were significantly correlated with osteonecrosis of the femoral head. Therefore, radiographs of the hips are highly recommended in baseline and follow-up assessments of MPS III patients.TRIAL REGISTRATION: Retrospectively registered.
AB - BACKGROUND: Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MPS III patients. The purpose of this study was to describe hip pathologies and influencing parameters in MPS III patients.METHODS: A retrospective chart review was performed for 101 MPS III patients. Thirty-two patients met the inclusion criteria of enzymatically or genetically confirmed diagnosis and anteroposterior radiograph of the hips. Modified Ficat classification, Wiberg's center-edge angle, and Reimer's migration percentage were measured.RESULTS: The mean age at data assessment was 11.0 years (SD 5.7). Osteonecrosis of the femoral head was observed in 17/32 patients. No statistically significant association was found between these changes and age, sex, or MPS III subtype. Patients with a severe phenotype showed significantly higher rates of osteonecrosis (14/17) than patients with an intermediate phenotype. Hip dysplasia was present in 9/32 patients and was significantly associated with osteonecrosis of the femoral head (p = 0.04).CONCLUSIONS: The present study demonstrates a high rate of hip pathologies in MPS III patients. Hip dysplasia and severe phenotype were significantly correlated with osteonecrosis of the femoral head. Therefore, radiographs of the hips are highly recommended in baseline and follow-up assessments of MPS III patients.TRIAL REGISTRATION: Retrospectively registered.
U2 - 10.1186/s13018-021-02340-6
DO - 10.1186/s13018-021-02340-6
M3 - SCORING: Journal article
C2 - 33741007
VL - 16
JO - J ORTHOP SURG RES
JF - J ORTHOP SURG RES
SN - 1749-799X
IS - 1
M1 - 201
ER -