PhD defence W. (Wei) Zhou

Brief summary of the doctoral thesis:

Atypical Femur Fracture (AFF) is a type of rare fracture considered an adverse effect of bisphosphonate (BP) use. Distinct from typical osteoporotic fractures, these fractures often occur in the subtrochanteric region and diaphysis of the femur. They are characterized by atypical features, such as transverse morphology, absence of comminution, and localized thickening of the lateral cortex. Patients' fear of AFF and other rare side effects associated with BP therapy has led to a decline in its use, contributing to the under-treatment of osteoporosis, and addressing these concerns is crucial for treatment decisions. Genetic factors have also been implicated in the development of AFFs. The risk of AFFs varies among different ethnicities, with Asians having a higher risk compared to Europeans. Familial clustering of AFFs suggests a genetic predisposition, and rare genetic variants have been identified in genes related to bone quantity, quality, and function. However, the exact genetic architecture of AFFs is still not fully understood. Studying the genetic basis of AFFs will contribute to a better understanding of these fractures, which can aid in developing genetic screening tools for personalized treatment and guide clinical practice.