Author: z_popeye
"The right thigh bone has been gone, the doctor has never seen this disease... I can also treat it as a human body researcher! Hope you can help!" Recently, a netizen with an ID called "Ting Jing Bai Me" posted a help post on Weibo.
According to the netizen, after she broke a bone in an accidental fall, her bones began to inexplicably "dissolve and disappear". Although he has been to many top hospitals in China and has undergone many surgeries, the cause of bone dissolution has not been known.
Screenshot of Weibo
After the help post was issued, it was quickly forwarded to tens of thousands of times, which also caused a lot of discussion in medical circles.
What is the situation? What exactly is the possible diagnosis for this patient?
Unexplained bone dissolution
Xue Tong (pseudonym), who posted the help post, is a young girl now 23 years old.
In March 2014, Xue Tong, then 15 years old, suffered an accidental fall that fractured the femoral shaft of his right leg, and then underwent surgery at The A hospital in the local hospital and implanted a steel plate.
Xue Tong's mother recalled that when she went to the hospital for a review about a month after the operation, the doctor found that there was bone resorption at the fracture interface of Xue Tong.
After the fracture, the steel plate is implanted, and the bone discord appears on the re-examination
"At that time, the degree was relatively mild, and the doctor said that there was no good way to do it, so let's go home and recuperate." Then, the results of the subsequent two or three months of re-examination showed that the bone resorption did not improve, but became more serious.
In January 2015, on the recommendation of a doctor, Xue Tong went to the B hospital of another local tertiary hospital and underwent bone grafting surgery: the free left fibula was implanted into the right femur fracture.
According to the medical records of Hospital B, Xue Tong's discharge diagnosis at that time was: 1. Right femur bone defect and bone non-connection; 2. After right femur fracture surgery.
After the first bone graft
Discharge record of the first bone graft
However, after this operation, Xue Tong's re-examination X-ray showed that the upper femur was displaced. In April 2015, Xue Tong once again underwent "right femur non-connection, postoperative deformity incision reduction and internal fixation surgery" at Hospital B, and replaced the steel plate.
This time, Xue Tong's discharge diagnosis was: 1, right femoral bone defect, bone disconnection postoperative deformity; 2, severe osteoporosis.
Discharge records after the third surgery
In the following two years, during the review process, Xue Tong again found that bone resorption of implanted bone appeared. Xue Tong's parents took her medical records to many top hospitals in Beijing and Shanghai for consultation.
"It has always been said that bone resorption and bone dissolution have no other way but bone grafting."
In 2017, Xue Tong came to Beijing C Hospital for treatment. According to the admission data at that time, Xue Tong's admission diagnosis was: 1, the fracture was not linked (right thigh); 2, the old femoral shaft fracture (right); 3, after free fibula transplantation (left); 4, waste osteoporosis (right lower limb); 5, internal fixation failure (right femur).
In August 2017, Xue Tong underwent bone graft surgery again at the Beijing C Hospital, "under general anesthesia the femoral fracture internal fixator was removed, the steel plate was fixed, and the fibula flap and iliac flap free graft (right)" were performed.
Discharge records of Beijing C Hospital
"At that time, the operation was done by the directors of the two departments together and did it for thirteen hours." Xue Tong's mother said, "But what is the specific cause of bone resorption is still not determined."
However, after this operation, Xue Tong had bone resorption again during the review.
On February 4, 2022, Xue Tong's latest review results showed that the 23 cm bone implanted in the right thigh four years ago had almost completely disappeared.
Review the footage on February 4, 2022
Around the medical history information published by Xue Tong on Weibo, several questions have become the focus of discussion: what is the possible diagnosis of bone dissolution and bone resorption that occurred in Xue Tong's body? What is the cause? Is there any hope for treatment?
Ding Xiangyuan invited Zhang Zhenlin, director of the Department of Osteoporosis and Osteopathy of the Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Xie Zhao, chief physician of the Department of Orthopedics of southwest hospital affiliated to the Army Military Medical University, Wang Anzhen, director of the Department of Orthopedics of Shanghai Shende Hospital, and Li Binghao, chief physician of the Department of Orthopedics of the Second Affiliated Hospital of Zhejiang University School of Medicine, to discuss the case.
What are the possible diagnoses?
Xie Zhao, chief physician of the Department of Orthopedics of the Southwest Hospital affiliated to the Army Military Medical University, told Lilac Garden that after the internal fixation of fractures, there will indeed be local osteolysis clinically, and there are many of them, most of which are related to local infections.
However, bone dissolution like Xue Tong's is different from ordinary cases.
"Clinically encountered osteolysis is often accompanied by ectopic neosthogenesis. However, in a patient like this, it is extremely rare for a postoperative bone dissolution to be so extensive and without the presence of new bone." Xie Zhao said, "Like this patient, not only the bone graft is dissolved, but the normal bones are also dissolved, I have never seen it, this is the first time."
Li Binghao, chief physician of the Department of Orthopedics of the Second Affiliated Hospital of Zhejiang University School of Medicine, also believes that xue tong's large bone dissolution is very rare: "In most cases, it will be manifested as the resorption of implanted bone, and it will not destroy the original normal bone." But as can be seen in this patient's condition, it is clear that the normal bone has also been destroyed and absorbed."
So, what is Xue Tong's possible diagnosis?
In the comments section of the help post, several replies invariably mention a very rare disease , massive osteolysis.
Massive osteolysis, also known as bone autolysis (Gorham-Stout syndrome), is a rare disease characterized by the gradual replacement of local bone tissue with fibrous connective tissue rich in parenchymal lymphatic vessels, typically manifested by progressive dissolution of local bone (including the bone cortex), clear boundaries, non-swelling, and no surrounding soft tissue mass.
This is very similar to Xue Tong's performance.
During the discussion, several experts tended to agree on the diagnosis of massive osteolysis.
"The diagnosis of bulk osteolysis should be valid, this disease is very rare and rarely reported." Zhang Zhenlin, director of the Department of Osteoporosis and Osteopathy at the Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, said, "The difficulty lies in finding the cause of dissolution, which is more commonly caused by hemangiomas and lymphangiomas, and if the cause needs to be determined, a pathological biopsy is required."
The pathological report of Xue Tong's last bone graft surgery, according to her and her family's recollection, is also the only pathological report at present
According to Li Binghao, previously, the second hospital of Zhejiang University and the two centers of Beijing Jishuitan Hospital had reported a total of 12 similar cases of osteolysis, but most of them occurred in the shoulder cyvicular joint and pelvic bone area. "There are very few cases like her in the femur."
In the above-mentioned article reporting similar cases, the authors of the paper wrote: "The cause of bone autolysis is still unclear, and it is generally believed in the industry that it is caused by local bone metabolism imbalance and osteoclasting. Stabilizing lesions as soon as possible and reducing bone destruction are the basis for bone autolysis treatment, but there is no recognized effective method."
Is there any hope for treatment?
Before sending out the help post, Xue Tong had undergone four surgeries, including two bone grafts. Although the cause is not yet clear, many experts have agreed with Xue Tong's previous diagnosis and treatment plan.
"Generally speaking, as long as we encounter obvious bone defects, bone graft surgery on the defect area is a very routine practice, there is no problem." Li Binghao said so.
Wang Anzhen, director of the Department of Orthopedics at Shanghai Shende Hospital, told Lilac Garden that under normal circumstances, the indications for bone graft surgery in orthopedics are divided into the following categories.
The first category, post-fractured bone resorption. "Some post-fracture patients may have gaps at the end of the fracture due to poor reduction and fixation, infection and other reasons, resulting in a poor prognosis of the fracture and bone resorption. For this type of patient, we consider a second surgery to fill in the gaps by implanting bone, helping to heal, and re-fixing."
The second category, defects after the lesion is removed. "Diseases such as bone tumors and bone cysts may form cavities or large defects after surgical removal of lesions, affecting the weight-bearing capacity of bones. Bone grafting also needs to be considered at this time."
The third category, joint fusion. "For example, interbody fusion, if the disc is removed for disease reasons, a gap will be formed in the place where the disc was originally, and joint stability can be provided through bone graft fusion."
However, Xue Tong experienced bone resorption after two bone graft surgeries, and the results of the latest review showed that the femur of the right leg had almost completely dissolved and disappeared. Under such circumstances, Wang Anzhen said that it is not recommended that patients undergo bone graft surgery again.
"After two bone grafts, the patient's bone mass is already very limited. If a bone graft is rushed without an unknown cause, it is very likely that bone dissolution will occur again."
"However, the follow-up can also consider whether the patient has autoimmune problems." Wang added.
Professor Zhang Zhenlin of the Sixth Shanghai Hospital recommended two possible drug treatment options, namely zoledronic acid and disumab.
Zoledronic acid
By forming a stable combination with calcium ions on the bone surface by phosphonic acid groups, when osteoclasts resorption, they are released from the bone surface and absorbed and bound to osteoclasts, thus achieving the effect of inhibiting osteoclasts. The current domestically approved indications of this drug in mainland China are for the treatment of osteoporosis in deformed osteitis and postmenopausal women.
Source: Medication Assistant
Diszumab
It is a human IgG2 monoclonal antibody that is primarily used to treat giant cell tumors of osteosocytoma that cannot be inoperated or surgically removed that may lead to severe dysfunction.
In terms of pharmacotherapy, it is also mentioned in the case report literature that bisphosphonates or interferon have been tried many times to treat bone autolysis, and most of the results suggest that the treatment is effective. "However, due to the rarity of the disease, the difficulty of conducting large-scale case-control studies, and the fact that some patients receive multiple treatments at the same time, the accurate efficacy of the above treatment modalities is difficult to assess."
"These two drugs are effective in the repair of bones." Professor Zhang Zhenlin said, "But the treatment of bone autolysis itself is very difficult, and there is still no effective treatment that can be determined."
In addition to drug treatment, Director Li Binghao of the Second Hospital of Zhejiang University mentioned another possibility: surgical treatment.
"Bone dissolution is not a malignant disease after all, it does not metastasize, but it will continue to spread outward locally. We can actually consider local surgery. If the patient is already considering a destructive amputation, we can try to remove the entire confirmed area, including the bone lysis area, to stop its continued spread." Li Binghao said, "That is, treat it as a benign tumor."
However, there is still uncertainty about this plan: Xue Tong's right leg femur has almost completely dissolved, involving a very large range.
"For this patient's condition, whether it is possible to complete large-segment resection reconstruction or to combine imaging data." If circumstances permit, total femur removal may also be considered."
However, Li Binghao also mentioned that the cost and risk pressure of this surgical plan are not small. "If, as the patient says, their lower extremities feel normal and their blood supply is normal, amputation may not be a choice worth considering."
Under Xue Tong's help post, there are also many enthusiastic netizens to help recommend famous hospitals and doctors, hoping to provide reference and help for Xue Tong's next diagnosis and treatment.
"Our family conditions are relatively limited, and it may be difficult to go abroad for treatment." Xue Tong's mother said, "We also know that this disease is very rare, but we still hope to find out the cause."
On February 23, 2022, Xue Tong, accompanied by his father, flew to Guangzhou. With the help of media reporters, they will meet with a local orthopedic specialist on Friday to discuss the next treatment plan. (Planner: z_popeye; Producer: Gyouza)
Note: The patient's medical history information is limited, and no face-to-face examination and further examination have been carried out, and this article is for discussion and reference only
Caption and some illustrations from: provided by Xue Tong
Resources:
Tao Huimin, Ji Yingyao, Chen Weishan, et al. Post-traumatic osteolysis[J]. Chin J Orthop, 2004, 24(7):5.
Liao Feng, Liu Weifeng, Xu Hairong, et al. Clinical characteristics and treatment of bone autolysis in six cases[J]. Chinese Journal of Bone and Joint, 2018, 007(001):60-65.