Characteristics and management of the haemophilia‐associated pseudotumours

Abstract

| INTRODUC TI ONHaemophilia-associated pseudotumours (HPT) were first described by Starker in 1918 and are a continuing cause of severe morbidity and mortality for patients with congenital haemophilia. 1 The prevalence of HPT has been described between 1% and 2% of patients with haemophilia with similar levels persisting despite the use of recombinant factor replacement over the last decades. 2,3 The clinical course of HPT can be heterogenous due to a variety of factors including age of onset, disease severity, presence of an inhibitor and inadequate factor replacement. 4 They can result in a variety of problems including bleeding, organ compression and loss of function, bone destruction and fistula formation.HPT typically develops at a site of injury such as a bone fracture, or from spontaneous bleeding in subperiosteal and soft tissues. A preceding traumatic event has been described in 57%-75% of patients with HPT. 3,5 Subsequent bleeding, inadequate blood reabsorption and capsular formation around the haematoma lead to progressive enlargement of the HPT. This can ultimately lead to the eventual mass effect on local structures or bone and skin AbstractThe management of haemophilia-associated pseudotumours presents an ongoing challenge to the haematologist, surgeon and interventional radiologist alike. There is a range of therapeutic approaches including factor replacement, embolization, radiotherapy and a variety of surgical interventions. However, there remains little evidence regarding the most appropriate treatment. We aimed to evaluate the available options of management for the haemophilia-associated pseudotumour. A literature review was performed using relevant terminology and reviewed for treatment approaches and outcomes. The results demonstrated that most of the data is from single case reports with a small number of single-and multicentre case series. In total, 133 patients with 134 described pseudotumours were identified. Adequate haemostatic control with factor replacement was a key component to successful treatment. Surgical excision was the most commonly reported surgical intervention with various composites used for filling of the surgical cavity. The use of radiotherapy has been described particularly in the paediatric population and sites of difficult surgical access. Embolization can be considered as a method of presurgical optimization.Patients with both factor inhibitors and pseudotumours have poorer postoperative outcomes. This review demonstrates that although a lack of large-centre, randomized studies, timely surgical intervention with adequate haemostatic support and the consideration adjuvant therapies in selected cases can achieve acceptable outcomes in this cohort of patients. K E Y W O R D Scomplication, haemophilia A, haemophilia B, pseudotumour, surgery S U PP O RTI N G I N FO R M ATI O NAdditional supporting information may be found online in the Supporting Information section.

Clinical characteristics and surgical treatment of haemophilic pseudotumor: A retrospective analysis of thirty‐four patients

“…With regard to the most frequent locations in total HPT patients, our finding agrees with Zhai's 26 on the top two locations: thigh and ilium. A review including 134 described HPTs by Doyle et al also showed the same result 33 . One author 26 pointed out that HPT had occurred outside a joint, but we found two cases around the knee.…”

Surgical treatment for patients with hemophilic pseudotumor-related femoral fracture: a retrospective study

“…HPTs are classified into 3 types according to the imaging features and location: soft tissue, subperiosteal, and intraosseous types [6]. HPTs normally involve adjacent bone and result in massive bone destruction [7].…”

“…Surgeons may encounter many challenges during surgery, such as abnormal anatomy, multiple fixation options, and bone reconstruction considerations. Complications, including nonunion, infection, fixation failure, inhibitor development, and pseudotumor recurrence, should not be ignored because they exert a profound influence on patient outcomes [7,12]. Avoiding complications is challenging for surgeons, and sometimes these complications are difficult to resolve.…”

Surgical Treatment for Patients With Hemophilic Pseudotumor-Related Femoral Fracture: A Retrospective Study

“…Besides, according to the imaging features and location of HPTs, they can be classi ed into 3 types: soft-tissue, subperiosteal and intraosseous types [6]. HPTs will normally involve adjacent bone, result in massive bone destruction [7].…”

“…Surgeons may encounter many challenges during operation, such as abnormal anatomy and multiple xation options and bone reconstruction programs. In addition, complications including nonunion, infection, xation failure, inhibitor development and pseudotumor recurrence should not be ignored, as they exert a profound in uence on patient outcomes [7,12]. Due to the rarity of these fractures, reports of surgical treatment for patients with HPT-related femoral fractures are scarce.…”