Skeletal characterization in a patient with Hajdu-Cheney syndrome undergoing total knee arthroplasty

Hajdu-Cheney syndrome (HCS) is a rare genetic connective tissue disorder caused by gain-of-function mutations in the NOTCH2 gene. We report a 38-year-old male HCS patient with a history of multiple pathologic fractures, poor bone stock under intermittent antiresorptive therapy, and secondary osteoar...

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Bibliographic Details
Published in:Osteoporosis international 2021-09, Vol.32 (9), p.1899-1904
Main Authors: von Vopelius, E., Oheim, R., Amling, M., Rolvien, T., Beil, F. T.
Format: Article
Language:English
Subjects:
Absorptiometry, Photon
Animal models
Animals
Arthroplasty (knee)
Arthroplasty, Replacement, Knee
Bone and Bones
Bone Remodeling
Bone turnover
Cartilage
Cartilage diseases
Case Report
Computed tomography
Connective tissue diseases
Cortical bone
Degeneration
Dual energy X-ray absorptiometry
Endocrinology
Energy metabolism
Fractures
Hajdu-Cheney Syndrome - diagnostic imaging
Homeostasis
Humans
Joint replacement surgery
Joint surgery
Male
Medicine
Medicine & Public Health
Mice
Notch2 protein
Orthopedics
Osteoarthritis
Osteoporosis
Rheumatology
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Summary:Hajdu-Cheney syndrome (HCS) is a rare genetic connective tissue disorder caused by gain-of-function mutations in the NOTCH2 gene. We report a 38-year-old male HCS patient with a history of multiple pathologic fractures, poor bone stock under intermittent antiresorptive therapy, and secondary osteoarthritis (OA) of the knee, in which we successfully performed total knee arthroplasty (TKA). Next to a detailed skeletal assessment including laboratory bone metabolism markers, dual energy X-ray absorptiometry (DXA), and high-resolution peripheral quantitative computed tomography (HR-pQCT), undecalcified histologic and histomorphometric analysis was performed on intraoperatively obtained tibial cut sections. This multiscale assessment revealed a severe, combined trabecular-cortical microarchitectural deterioration, increased bone turnover indices, and advanced cartilage degeneration, thus demonstrating the crucial role of Notch2 in skeletal and cartilage homeostasis, which is in line with the findings of previous mouse models.
ISSN:0937-941X
1433-2965
DOI:10.1007/s00198-021-05914-6