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Hip pathologies in mucopolysaccharidosis type III

Sandra Rafaela Breyer1,2,3, Eik Vettorazzi4, Leonie Schmitz4

  • 1Department of Pediatric Orthopedics, Children's Hospital Altona, Bleickenallee 38, 22763, Hamburg, Germany. sandra.r.breyer@gmail.com.

Journal of Orthopaedic Surgery and Research
|March 20, 2021
PubMed
Abstract

Insights

Mucopolysaccharidosis type III (MPS III) patients show high rates of hip pathologies, particularly osteonecrosis of the femoral head. Severe phenotypes and hip dysplasia significantly increase this risk, necessitating regular hip imaging.

Area of Science:

  • Orthopedics
  • Genetics
  • Rare Diseases

Background:

  • Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease.
  • While less common than in other MPS types, hip and spine pathologies occur in MPS III.
  • This study focuses on hip issues in MPS III patients.

Purpose of the Study:

  • To characterize hip pathologies in MPS III patients.
  • To identify factors influencing these hip conditions.

Main Methods:

  • Retrospective review of 101 MPS III patients.
  • Inclusion criteria: confirmed diagnosis and hip radiographs.
  • Evaluated hip dysplasia and femoral head osteonecrosis using specific classifications.

Main Results:

  • Osteonecrosis of the femoral head found in 17/32 patients.
  • Hip dysplasia present in 9/32 patients, linked to osteonecrosis (p=0.04).
  • Severe MPS III phenotype correlated with higher osteonecrosis rates.

Conclusions:

  • MPS III patients exhibit a high prevalence of hip pathologies.
  • Hip dysplasia and severe phenotype are risk factors for femoral head osteonecrosis.
  • Routine hip radiography is recommended for MPS III patients.
Keywords:
Dysostosis multiplexFemoral headHip dysplasiaMPSMucopolysaccharidosis type IIIOsteonecrosisPainSanfilippo syndromeSkeletal diseaseSkeletal dysplasia

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