Long bone fracture in a child with haemophilia- surgical management under factor coverage: A case report and literature review

1 Introduction

Haemophilia is an X-linked inherited genetic bleeding disorder where there is reduced factor VIII (Haemophilia A) or factor IX (Haemophilia B) ^1,2 The quality of treatment and, thereby the quality of life changed dramatically as factor concentrates development began in the 1950s and with the introduction of cryoprecipitate in the treatment practice in the 1970s.³ This even made surgeries possible for selected cases of persons with haemophilia (PWH). Untreated cases of haemophilia lead to muscle atrophy, osteoporosis, joint stiffness and malalignment, which may increase the risk of fracture. We report the successful surgical management of a child with haemophilia who presented to the emergency room with a supracondylar femur fracture, highlighting the importance of multidisciplinary collaboration, optimized clotting factor levels, and careful surgical and postoperative management to minimize bleeding risks.

2 Case report

An 11-year-old boy presented in the emergency room with pain in the right thigh after an alleged history of accidental slip and fall from bed 3 days before the date of presentation. He was a known case of haemophilia B. On radiological evaluation, he was diagnosed to have a supracondylar fracture of the femur right(AO 33-M/3.1) (Fig. 1). According to AO guidelines, the ideal treatment for such fractures would be surgical fixation by closed/open reduction and k-wire fixation. However, considering the Haemophilia status of the child, there were concerns both from the parents as well as the medical team concerning the risk of bleeding and associated complications if a surgical fixation were to be attempted for this patient. Thirty per cent of patients undergoing a major hip or knee surgery had a major bleeding complication if the patient had haemophilia.⁴

Close

Fig. 1 Pre-op x-ray of the patient.

Export to PPT

The patient was admitted and the routine workup was done. After a clinical haematology workup, the child was found to be Factor IX (FIX) inhibitor negative. For major surgeries, aim for peak factor levels of 80 %–100 % pre-surgery, gradually reducing levels over the first 14 postoperative days ⁵ Factor supplementation according to body weight was planned and the patient was scheduled for the surgical fixation.

Pre-operative optimisation:

Factor supplementation was done per the following protocol the clinical haematology team had planned.

Injection FIX 100 per cent correction pre-op (1 h before taking to operation theatre) (total 3000 IU before surgery)

Postoperative day 1–3: Factor IX 90 per cent i.e., 2400 IU every 24 hours.

Postoperative day 4–6: Factor IX 70 per cent i.e., 1800 IU every 24 hours.

Postoperative day 7–9: Factor IX 45 per cent i.e., 1200 IU every 24 hours.

Postoperative day 10–14: Factor IX 30 per cent i.e., 600 IU every 24 hours.

The patient was kept on Haemophilia Comprehensive Care Centre follow-up.

Intra-operative:

Prophylactic Tranexamic acid injection, according to body-weight of child, was given just before the incision. The fracture was managed by open reduction and internal fixation with K-wires, since the intra-operative closed reduction of fracture was unsuccessful (due to delay in surgery). The surgery went uneventfully. Immediate post-operative x-ray film is shown in Fig. 2.

Close

Fig. 2 Immediate post op x-ray of the patient.

Export to PPT

Post-operative:

The suture removal was done on postoperative day 14. Immobilization for the knee joint with cylinder cast application was continued for 8 weeks in the post-operative period. The cast was removed and the patient radiologically and clinically assessed for the fracture union. The 8-week post-operative x-ray film is shown in Fig. 3.

Close

Fig. 3 Follow up X rays of the patient.

Export to PPT

Since the fracture had clinically and radiologically united the patient was started on knee range of motion and quadriceps strengthening exercises. Toe-touch weight bearing with walker assistance was begun after 8 weeks of the surgery. K- wires were removed 12 weeks after the surgery on an outpatient clinic basis, following which x-ray radiological evaluation was done (Fig. 4) and full-weight bearing was allowed for the patient.

Close

Fig. 4 Follow up x rays of the patient after removal of K- wires.

Export to PPT

3 Discussion

Research indicates that 27 % of individuals with haemophilia experience osteoporosis, while 43 % have reduced bone density, which seems to start in childhood.⁶

It has been observed that there is an increase in urinary calcium excretion among children with haemophilia who have normal renal function, potentially impacting bone mineralisation. Numerous studies reveal that individuals with haemophilia tend to have significantly lower vitamin D levels than healthy individuals, with vitamin D deficiency potentially leading to reduced bone density. Knowles et al. found that in patients with haemophilia, macrophage polarisation was altered leading to a decrease in the ratio of M2 polarised macrophages, accounting for the lower bone mass.⁷Flow chart showing how clotting factors affect bone⁸.Image 1

Gay and colleagues noted a higher occurrence of fractures in individuals with haemophilia compared to those without condition (24.8 fractures per 1000 patient-years versus 9.6 fractures per 1000 patient-years in the control group).⁹ Nowadays, prophylactic factor replacement therapy encourages patients to take more risks in sports, traffic, and at work, potentially increasing the incidence of fractures after trauma, especially among younger patients with haemophilia.⁹ Surgical procedures in individuals with haemophilia carry a greater risk of both intraoperative and postoperative bleeding, complications with wound healing, and infections following surgery.⁹ The use of external fixators is not advised in patients with haemophilia because of the risk of pin tract infection, loosening of pins due to poor bone quality and bleeding.¹⁰ Effective management of fractures in patients with bleeding disorders necessitates appropriate perioperative factor replacement from the time of emergency admission until discharge. This requires close interdisciplinary collaboration between surgeons and haematologists, ensuring timely and individualised factor replacement. Unexpectedly, the length of preoperative hospital stay following acute admission was not extended for patients with haemophilia.⁹

Given that the lower leg often experiences swelling following an injury, managing soft tissue in patients with PWH may be more complicated than in healthy individuals. As coagulation was properly managed, there was no need for extra surgical time to attain haemostasis or to address bleeding issues.⁹

Before the availability of factors, PWH who had fractures of upper and lower limbs ended up having joint stiffness due to prolonged immobilization and those particularly with lower limb fractures had difficulties due to malalignment.³ In a review by Rodriguez-Merchan in 2002, they suggested that fractures in haemophilia should be fixed surgically for better outcomes.¹¹ Case reports mentioning the core management of a trauma-associated fracture in PWH were limited in our literature search.

Recombinant factor concentrates are produced using transfected mammalian cells and have been available since 1992. In terms of biochemical and haemostatic properties, recombinant factors have proven to be remarkably similar to plasma-derived factors, yet they possess a better safety profile. Furthermore, they exhibit nearly identical pharmacokinetic profiles concerning half-life and dosage ¹²

Fracture healing in patients with haemophilia is largely endosteal.¹³ According to various similar case reports the majority of the complications associated with orthopaedic surgical procedures in PWH are intraoperative massive bleeding, haemarthrosis, synovitis, poor soft tissue healing, eventual arthritis, delayed bone healing, need for bone marrow injections, implant loosening and the need for re-surgery.^11,14 With some good preoperative preparation combining replacement therapy, fractures in persons with haemophilia were safe for surgical treatment ¹²

The surgical techniques used were focused on minimizing bleeding including the use of perioperative tranexamic acid injection and the FIX cover. Post-operatively compression dressings were given up until suture removal was done. Calcium, vitamin D and Vitamin C supplementation were given in the postoperative period to the patient to minimize the chance of non-union, delayed union or delayed wound healing due to nutritional deficiency.

4 Conclusion

Surgery in persons with Haemophilia is not commonly attempted due to the risks associated with profuse bleeding during the procedure like multiorgan failure, seizure, coma or even death ⁴ Here we have successfully surgically treated a supracondylar femur fracture on an 11-year-old child with haemophilia B by seeking support from the clinical Haematology and the anaesthesiology departments, extensive pre-operative planning and by following a supervised peri-operative protocol of Factor IX supplementation. This goes on to show the importance of inter-departmental cooperation in the successful management of such rare and difficult fracture cases.

CRediT authorship contribution statement

Suresh Chand: Primary Research and Writing of Article. Shailendra Prasad Verma: Primary research and Writing of the Article. Praseeth K. Radhakrishnan: Research, Contribution to Discussion and Reporting, Correspondence. Syed Faisal Afaque: Research and Contribution to the Introduction and Case Discussion. Vikas Verma: Research of Literature and Case Discussion. Rashmi Kushwaha: Research of Literature and Case discussion.

Consent

Informed written consent was taken from the parent of the child regarding the information of the child used in this case report and for the x-ray films and imaging pictures used for this case report.

Ethical statement

Written informed consent was obtained from the participant/parent for publication of the details of their medical condition and any accompanying images.

Funding Statement

This case report was not supported by any sponsor or funder.