Ho Duy Binh1,2,3, Katre Maasalu4,5, Vu Chi Dung6, Can T Bich Ngoc6, Ton That Hung7, Tran V Nam8, Le N Thanh Nhan9, Ele Prans10, Ene Reimann10, Lidiia Zhytnik4, Sulev Kõks10, Aare Märtson4,5. 1. Hue University of Medicine and Pharmacy, Hue University, 06 ngo Quyen, Hue, 530000, Vietnam. binhthuybi@yahoo.com. 2. Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia. binhthuybi@yahoo.com. 3. Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Puusepa 8, 51014, Tartu, Estonia. binhthuybi@yahoo.com. 4. Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia. 5. Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Puusepa 8, 51014, Tartu, Estonia. 6. National Hospital of Pediatrics, 18/879 La Thanh, Dong Da, 100000, Hanoi, Vietnam. 7. OI Booming Diamond Center, 303/38 Ha Huy Giap, 12th District, 700000, Ho Chi Minh City, Vietnam. 8. Traditional Medicine Institute, 273 Nguyen Van Troi, Phu Nhuan, 700000, Ho Chi Minh City, Vietnam. 9. Hue University of Medicine and Pharmacy, Hue University, 06 ngo Quyen, Hue, 530000, Vietnam. 10. Pathophysiology Department, University of Tartu, Ravila 19, Tartu, 50411, Estonia.
Abstract
PURPOSE: Osteogenesis imperfecta (OI) has not been studied in a Vietnamese population before. The aim of this study was to systematically collect epidemiological information, investigate clinical features and create a clinical database of OI patients in Vietnam for future research and treatment strategy development. METHOD: Participants underwent clinical and physical examinations; also medical records were reviewed. Genealogical information was collected and family members' phenotypical manifestations recorded. Cases were classified according to the Sillence classification. RESULTS: In total, 146 OI patients from 120 families were studied: 46 with OI Type I, 46 with Type III and 54 with Type IV. Almost patients had skeletal deformations. One hundred and forty-two had a history of fractures, 117 blue sclera, 89 dentinogenesis imperfecta and 26 hearing loss. The total number of fractures was 1,932. Thirty-four patients had intra-uterine fractures and nine had perinatal fractures. Surgery was performed 163 times in 58 patients; 100 osteosyntheses and 63 osteotomies. Bisphosphonate treatment was used in 37 patients. The number of affected individuals and predominance of severe forms of OI indicate that the disease is under diagnosed in Vietnam, especially in cases without a family history or with mild form of OI. Deformities appeared in all patients with different severity and localisation, affecting mostly the lower limbs. OI medical and surgical treatment rates are low and in most cases surgery was performed due to fractures. CONCLUSIONS: Compared to previous studies, our results indicate a lower OI prevalence and greater severity of symptoms in the Vietnamese population when compared with other areas. Further investigation, improved diagnosis and treatment are needed to increase the patients' quality of life.
PURPOSE:Osteogenesis imperfecta (OI) has not been studied in a Vietnamese population before. The aim of this study was to systematically collect epidemiological information, investigate clinical features and create a clinical database of OI patients in Vietnam for future research and treatment strategy development. METHOD:Participants underwent clinical and physical examinations; also medical records were reviewed. Genealogical information was collected and family members' phenotypical manifestations recorded. Cases were classified according to the Sillence classification. RESULTS: In total, 146 OI patients from 120 families were studied: 46 with OI Type I, 46 with Type III and 54 with Type IV. Almost patients had skeletal deformations. One hundred and forty-two had a history of fractures, 117 blue sclera, 89 dentinogenesis imperfecta and 26 hearing loss. The total number of fractures was 1,932. Thirty-four patients had intra-uterine fractures and nine had perinatal fractures. Surgery was performed 163 times in 58 patients; 100 osteosyntheses and 63 osteotomies. Bisphosphonate treatment was used in 37 patients. The number of affected individuals and predominance of severe forms of OI indicate that the disease is under diagnosed in Vietnam, especially in cases without a family history or with mild form of OI. Deformities appeared in all patients with different severity and localisation, affecting mostly the lower limbs. OI medical and surgical treatment rates are low and in most cases surgery was performed due to fractures. CONCLUSIONS: Compared to previous studies, our results indicate a lower OI prevalence and greater severity of symptoms in the Vietnamese population when compared with other areas. Further investigation, improved diagnosis and treatment are needed to increase the patients' quality of life.
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