Pseudotumours are uncommon complications of haemophilia, occurring in 1%-2% of patients with haemophilia.1 , 2 It is a slowly expanding haematoma as a result of recurrent haemorrhage, surrounded by a fibrous capsule. It can occur in both bone and soft tissue, and progressive enlargement may result in bone destruction and/or muscle and skin necrosis. Pseudotumours by themselves are usually painless though its mass effect can result in nerve compression resulting in pain or neurologic symptoms. It may also predispose to pathologic fractures (as in our case) and superimposed infections.2 , 3.

Haemophilia presents a significant challenge to the quality of life of affected individuals. Evaluating the health-related quality of life (HRQoL) of people with haemophilia (PwH) provides a valuable mean of assessing their perception of overall care outcomes, while also identifying influential factors across various age and condition severity demographics. This observational retrospective study determined the HRQoL of 100 adult PwH in Northern Greece through comprehensive analysis and interpretation of their HRQoL levels, particularly in domains concerning their physical, emotional, and mental well-being, obtained through the Haem-A-QoL index questionnaire. Disease severity and young age were significantly associated with the administration of prophylactic treatment (84.2% of patients with severe haemophilia and 65.2% of patients aged 18-30). The mean Haem-A-QoL score was 40.11 ± 17.38, with the lowest HRQoL observed in the 46-60 age group (46.16), and the highest in the ≥61 age groups (35.16). Notably, the \'Sports/Leisure\' and \'Physical Health\' domains exhibited the highest scores, in contrast to \'Family Planning\' and \'Relationships/Sexuality\'. Individuals with mild haemophilia recorded the lowest mean score (39.38), while those with a severe condition exhibited the highest (41.23). Age, disease severity, and physical activity emerged as primary determinants significantly affecting HRQoL outcomes.

Total knee arthroplasty (TKA) has been the gold standard for treating severe haemophilic arthropathy of the knee when all conservative measures fail. However, performing a TKA in patients with haemophilic arthropathy is difficult due to severe joint deformity and destruction, and poor bone quality. The aim of the present study was to evaluate the short-term results of TKA in the treatment of knee haemophilic arthropathy in a tertiary referral centre, with an emphasis on health-related quality of life and knee function. A prospective study was conducted that included 19 male patients with end-stage haemophilic knee arthropathy who underwent TKA in a tertiary referral centre. Clinical outcome and health-related quality of life were assessed by the Western Ontario and McMaster Universities Arthritis (WOMAC) index and the Short Form-36 (SF-36) both pre-operatively and at 1-year post-operatively. The mean age of the patients was 50.37±7.63 years (range, 40-65 years). Pre-operative health-related quality of life was impaired in all patients in all SF-36 domains but was markedly improved after TKA. Knee function in all dimensions (pain, stiffness and physical function), as measured by the WOMAC questionnaire, significantly improved after TKA. Pre-operative pain, stiffness and function, along with total WOMAC score, were strongly and negatively correlated with pre-operative SF-36. Overall, the present study indicated a significant improvement in quality of life and clinical outcome after TKA in patients with advanced haemophilic arthropathy. More studies with longer follow-up periods in a larger population are needed to fully elucidate the mid- and long-term values of TKA in haemophilic patients.

BACKGROUND: Adeno-associated virus (AAV)-based gene therapy for haemophilia has advanced substantially in the last 13 years; recently, three products have received approvals from regulatory authorities. Although the impact on quality of life seems promising, some limitations remain, such as the presence of pre-existing anti-AAV neutralising antibodies and the occurrence of hepatotoxicity. This review follows the CSL Behring-sponsored symposium at the 27th Congress of the European Hematology Association (EHA) 2022 that examined the haemophilia gene therapy process from a 360-degree multidisciplinary perspective. Here, the faculty (haematologist, nurse and haemophilia patient) summarised their own viewpoints from the symposium, with the aim of highlighting the key considerations required to engage with gene therapy effectively, for both patients and providers, as well as the importance of multidisciplinary collaboration, including with industry.
RESULTS: When considering these new therapies, patients face a complex decision-making process, which includes whether gene therapy is right for them at their current stage of life. The authors agreed that collaboration and tailored education across the multidisciplinary team (including patients and their carers/families), starting early in the process and continuing throughout the long-term follow-up period, is key for the success of gene therapy. Additionally, patient expectations, which may surround eligibility, follow-up requirements and treatment outcomes, should be continually explored. During these ongoing discussions, transparent communication of the unknown factors, such as anticipated clotting factor levels, long-term factor expression and safety, and psychological changes, is critical. To ensure efficiency and comprehensiveness, clearly‑defined protocols should outline the whole process, which should include the recording and management of long-term effects.
CONCLUSIONS: In order to engage effectively, both patients and providers should be familiar with these key considerations prior to their involvement with the haemophilia gene therapy process. The future after the approval of haemophilia gene therapies remains to be seen and real-world evidence is eagerly awaited.

Introduction: Patients with Haemophilia (PWH) need orthopaedic treatments and often they undergo surgery. Classically, PWH with inhibitors have to face such procedures earlier than other patients. Major orthopaedic surgery is not easy and complications are frequent. Emicizumab is the first monoclonal antibody introduced for haematological prophylaxis for PWH with inhibitors, achieving an efficacious haemostasis also in patients with severe haemophilia A with inhibitors, later demonstrated for PWH without inhibitors. A few years ago, emicizumab was also proposed for PWH undergoing surgery, as it supports excellent bleeding control. The literature on orthopaedic surgery using an emicizumab protocol is scarce: only isolated case reports with short-term follow-ups are available. Aim: The purpose of this study is the assessment of the mid-term outcomes of major orthopaedic surgery performed in a population of patients with and without inhibitors and an emicizumab regimen. Methods: We reviewed the records of 13 PWH (eight with high-titre inhibitors, five without) with a mean age of 54.6 years, undergoing 15 orthopaedic surgical procedures between 2017 and 2022: primary knee and hip arthroplasty, revision, pseudotumor excision, or amputation. Their prophylaxis consisted of the combination of emicizumab and boluses of rFVIIa (PWH with inhibitors) or rFVIII (PWH without inhibitors). The clinical parameters of evaluation were: VAS, Haemophilic Joint Health Score (HJHS), and standard radiologic studies. Follow-up was conducted at 1, 3, 6 months, and then yearly. The survival rate of all implants was also assessed. Results: The mean follow-up was 38.8 months (range: 12-65). All patients were successfully treated without complications during surgery. During the postoperative period, a patient affected by a septic complication two months after his pseudotumor excision underwent an above-the-knee amputation. All patients were regularly discharged to the rehabilitative ward, reporting satisfaction for pain reduction and improved joint and global function at the VAS and HJHS scores. No revisions or implant failures were recorded. Conclusions: A prophylaxis regimen with emicizumab and factor replacement in PWH with or without inhibitors undergoing major orthopaedic surgery ensures effective bleeding control and good postoperative clinical outcomes at mid-term follow-up, and may be routinely adopted in dedicated high-volume hospitals. This series is the most consistent to date reported at a single Haemophilia centre.

An extremely high prevalence (12.2%) of moderate-to-severe coronary artery stenosis (CAS) was documented in asymptomatic Japanese haemophiliacs living with HIV-1 (JHLH) in our previous study. The cause of this phenomenon remains unknown. We conducted the CAS screening in people living with HIV-1 without haemophilia (PLWH without haemophilia) to compare the prevalence of CAS in JHLH and PLWH without haemophilia and to identify the risk factors including inflammation markers. Ninety-seven age-matched male PLWH without haemophilia who consulted our outpatient clinic between June and July 2021 were randomly selected, and 69 patients who provided informed consent were screened for CAS using coronary computed tomography angiography (CCTA). The number of JHLH cases was 62 in this study. The prevalence of moderate (> 50%) to severe (> 75%) CAS was significantly higher in JHLH [14/57 (24.6%) vs. 6/69 (8.7%), p = 0.015], and the ratio of CAS requiring urgent interventions was significantly higher [7 (12.3%) vs. 1 (1.4%), p = 0.013] in JHLH than in PLWH without haemophilia. Among the inflammatory markers, serum titres of intercellular adhesion molecule-1 (p < 0.05) and interleukin-6 (p < 0.05) in JHLH were significantly higher than those in PLWH without haemophilia. Although some patient demographics were different in the age-matched study, it might be possible to speculate that intravascular inflammation might promote CAS in JHLH.

BACKGROUND: There are no specific recommendations for the management of patients with bleeding disorders (BD), such as haemophilia A (HA), haemophilia B (HB), or von Willebrand disease (WD), in urology surgery. Methods: We conducted a retrospective study of 32 patients with HA, HB, or WD of any severity. Fifty-seven procedures were performed between January 2017 and September 2023. Surgical interventions were divided into two groups: those with and without electrocoagulation. The control patients were successively matched in a 2:1 ratio. Results: The study group consisted of 30 men and 2 women, with 23 HA, 2 HB, and 7 WD. The median age of the patients was 69 years. The BD group had a longer hospital stay of 4 days compared to 1 day (p < 0.0001). The incidence of bleeding events was 21% versus 2% (p < 0.0001), and the incidence of complications was 21% versus 7% (p = 0.0036) for Clavien 1-2 respectively. In the subgroup with intraoperative coagulation, the readmission rate at 30 days was higher (17% vs. 3%, p = 0.00386), as was the transfusion rate (17% vs. 3%, p = 0.0386). Conclusions: This study showed that urological procedures in patients with bleeding disorders were associated with a higher risk of bleeding and complications.

BACKGROUND: Opinions in the literature on the impact of cancer on patients with haemophilia are contradictory. There is a lack of data on the clinical presentation and management of cancer in patients with haemophilia (PWH).
METHODS: Papers were found following a comprehensive search in PubMed, Google Scholar, and Scopus using the terms \"cancer\" and \"haemophilia\" without time limits and using the English language as a filter. The references from all the retrieved original articles and reviews were assessed for additional relevant articles.
RESULTS: The emergence of malignancies is one of the important causes of morbidity and mortality in PWH. In the past decade, the literature mainly focused on the epidemiology and outcome of blood-borne cancers in the haemophilia patient group, as the incidence of hepatitis B virus (HBV), hepatitis C (HCV), and HIV infection were high among them. However, with the introduction of recombinant clotting factor concentrates (CFCs), physicians now pay attention to non-virus-related malignancies. Bleeding and thrombotic complications are important causes of morbidity and mortality in critically ill patients with cancer; replacement therapy with factor VIII or IX or others should be maintained during antitumour treatment.
CONCLUSIONS: Overall, managing cancer in patients with haemophilia requires careful evaluation and individualised planning involving a multidisciplinary team of physicians experienced in haematology, oncology, and surgery.

UNASSIGNED: Due to the rarity of pelvic haemophilic pseudotumour (PHPT) and demanding surgical technique for PHPT excision, no study reports the mid-term follow-up outcomes of surgical treatment of PHPT in a relatively large cohort. PHPT with varying degrees of bony pelvic involvement and infection status necessitates different operative procedures, yet there is currently no classification system for PHPT based on surgical practice.
UNASSIGNED: The study was conducted between June 25, 2004 and July 18, 2023, in Peking Union Medical College Hospital and Nanfang Hospital in China. We performed a retrospective analysis involving 21 patients with 24 PHPTs with a mean follow-up period of 7.1 years. The demographic information, PHPT characteristics, surgical data, and perioperative complications were analysed.
UNASSIGNED: 21 consecutive male patients with 24 PHPTs (21 primary PHPTs and three recurrent PHPTs) that underwent surgical treatment were involved in the study. A classification system including four subtypes was introduced as (I) PHPT confined to soft tissue; (II) PHPT involving bony pelvic without pelvic discontinuity; (III) PHPT causing pelvic discontinuity; (IV) Infectious PHPT. Of the 24 PHPTs, 11 (45.8%) were identified as Type I, five (20.8%) as Type II, three (12.5%) as Type III, and five (20.8%) as Type IV. At the time of surgery, the patients had a mean age of 37.0 ± 9.5 years (Range, 24-52 years). The mean maximum diameter of PHPTs upon surgery was 17.0 ± 7.7 cm (Range, 4.3-40.0 cm). The mean surgical duration was 192 ± 77 min (Range, 60-330 min) and the median intraoperative blood loss was 400 mL (IQR, 225-950 mL, Range, 100-3000 mL). One patient (4.8%) underwent intraoperative cardiopulmonary arrest and expired the following week. Four PHPTs (16.7%) presented postoperative wound infections and poor wound healing. During the follow-up period, five PHPTs (20.8%) experienced pseudotumour recurrence.
UNASSIGNED: Our findings suggest that surgical treatment for PHPTs is feasible and relatively safe. Symptomatic and progressive PHPTs should undergo surgical intervention as early as possible to minimise the surgical risks. Intraoperative use of abundant gelatin sponges in PHPT excision draws attention to severe embolism complications.
UNASSIGNED: There are no sources of funding for this manuscript.

The treatment landscape for haemophilia is changing rapidly, creating opportunities for personalized treatment. As major morbidity is still caused by haemophilic arthropathy, understanding the factors affecting joint damage and joint damage progression might lead to more individualized treatment regimens. We investigated the association of HFE mutations or HMOX1 polymorphisms affecting iron/heme handling with radiographic joint damage in 252 haemophilia patients (severe and moderate). Although iron levels and transferrin saturation were significantly increased in the 95 patients with an HFE mutation, neither carrying this mutation nor the HMOX1 polymorphism was associated with radiographic joint damage, and the same was true after adjustment for well-known factors associated with arthropathy. In conclusion, this study does not support the hypothesis that HFE mutations or HMOX1 polymorphisms can be used to predict the development of haemophilic arthropathy.