Osteogenesis Imperfecta (OI) family case in Latvia

Abstract

Osteogenesis imperfecta (OI), known as brittle bone or glass bone disease, presents a captivating narrative intertwining historical landmarks with contemporary medical exploration. This case report delves into the multifaceted landscape of OI, shedding light on its genetic intricacies, clinical manifestations, and therapeutic challenges. This report centers around a 29-year-old male from Latvia with a history of recurrent multiple fractures and familial inheritance of OI total in 4 generations. Through comprehensive evaluation and genetic analysis, the patient was finally diagnosed with type I OI, a milder variant characterized by fractures and minimal skeletal deformities. Remarkably, genetic confirmation revealed the transmission of OI to the patient's older daughter, illustrating the intergenerational transmission of this genetic predisposition within the family lineage. Following a thorough clinical assessment, the patient underwent multiple imaging testing, when in the end genetic analysis confirmed the diagnosis of type I OI, with laboratory findings together confirming osteoporosis from the age of 16. Patient underwent treatment with bisphosphonates and now continuing denosumab. Additionally, in future interdisciplinary collaboration would facilitate the implementation of monitored physical activity programs to prevent bone mass loss. This case report underscores the complexities inherent to OI, emphasizing the importance of interdisciplinary collaboration, genetic counseling, and personalized management approaches. By unrevealing the genetic fabric of this Latvian OI family, the report enriches our understanding of OI pathogenesis, management strategies, and prognostic practices. Furthermore, it highlights the imperative for ongoing research endeavors to advance clinical care and empower individuals navigating the complexities of OI.