TIMELY TREATMENT RESCUES AUSTRALIAN TOURIST WITH RARE OSTEOPETROSIS DISEASE

While visiting Vietnam, an Australian tourist with a rare osteopetrosis condition unexpectedly fractured her femur. Thanks to the expert care at FV Hospital, she successfully regained her ability to walk.

For the first time, a patient with a rare and exceptionally uncommon disease, seldom seen worldwide, received treatment.

During her trip along the Mekong River in Vietnam’s Mekong Delta, Ms. B.K.A., a 42-year-old Australian tourist, unfortunately slipped and fell off the boat, suffering a broken femur. She was quickly taken to FV Hospital for emergency treatment.

At FV Hospital, Ms. B.K.A. disclosed her medical history of osteopetrosis, a rare congenital condition. This genetic disorder disrupts normal bone development and regeneration, resulting in brittle bones that are highly susceptible to fractures.

Osteopetrosis is an extremely rare genetic disorder characterised by abnormalities in bone development and regeneration, leading to brittle bones that are prone to fractures
Osteopetrosis is an extremely rare genetic disorder characterised by abnormalities in bone development and regeneration, leading to brittle bones that are prone to fractures

Dr Truong Hoang Vinh Khiem, from the Bone & Joint Centre at FV Hospital, who directly examined and treated Ms. B.K.A., noted that this was the first experience managing a patient with osteopetrosis – a condition so rare it affects only 1 in 500,000 people globally.

“Normally, bones have two main characteristics: strength and flexibility. However, in people with osteopetrosis, the abnormal calcium absorption process causes bones to lose their necessary elasticity, making them rigid but easily breakable. This disease is present from birth and can lead to severe complications, including blindness due to optic nerve compression, anaemia caused by the bone marrow’s inability to produce enough red blood cells, and other musculoskeletal problems,” Dr Khiem explained.

Osteopetrosis has led Ms. B.K.A. to suffer multiple fractures and significantly impaired her vision, rendering her blind in her right eye and leaving her with severely limited vision in her left. According to Dr Khiem, most individuals with this condition do not survive beyond their teenage years, making Ms. B.K.A.’s case exceptionally rare. Remarkably, despite the challenges posed by this rare disease, her passion for exploring the world remains unaffected.

The Complex Femur Fracture Surgery for an Osteopetrosis Patient

The fracture site on B.K.A.’s femur was severe, with a high risk of losing her ability to walk. The surgery carried significant risks due to the abnormal bone structure and severe anaemia.

After thoroughly reviewing medical literature, Dr Khiem determined that the surgery needed to be performed with utmost caution to prevent bone fractures and minimize blood loss.

The surgery, lasting approximately one and a half hours, required specialised surgical techniques: Bone drilling was performed slowly, beginning with a small drill bit and gradually increasing in size to reduce the risk of the drill breaking within the brittle bone. Dr Khiem also meticulously monitored the risk of bleeding throughout the procedure to ensure the patient’s safety.

Dr Truong Hoang Vinh Khiem and the surgical team perform the surgery for the patient
Dr Truong Hoang Vinh Khiem and the surgical team perform the surgery for the patient

During the surgery, doctors administered continuous blood transfusions to compensate for the significant blood loss. Each unit of blood was crucial for the patient, as her body was unable to produce new blood due to her condition.

Always Prepared to Treat Rare and Complex Cases

The surgery was a success, thanks to the meticulous preparation of the surgical team. “This is the first time I have encountered this condition in real life. The surgical procedure was very challenging, but through thorough research and detailed planning, we achieved a positive outcome,” Dr Khiem shared.

Dr Khiem highlighted that FV Hospital’s Bone & Joint Centre frequently manages complex cases, including rare and unusual conditions like B.K.A.’s. He emphasised that the experienced medical team at FV is always prepared to tackle challenging and rare cases to save patients’ lives.

Dr Truong Hoang Vinh Khiem re-examines the patient after surgery
Dr Truong Hoang Vinh Khiem re-examines the patient after surgery

Following the surgery, Ms. B.K.A. underwent physical therapy and rehabilitation. By the time she was discharged and ready to return to her home country, she had regained the ability to walk and manage personal activities independently. Dr Khiem noted that her full recovery would take additional time and require close monitoring by doctors once she returned to Australia.

“The doctors at FV are very skilled and confident, even though they had never encountered this situation before. I felt at ease throughout the treatment process. The staff at FV are very friendly and always made an effort to assist me. I was especially impressed with the physiotherapy technicians; they were very professional and knew how to handle my condition well,” Ms. B.K.A. shared gratefully before her discharge.

For more information on the treatment of musculoskeletal disorders, please contact the Bone & Joint Centre at FV Hospital at: (028) 54 11 33 33.