Search Results (12)

Haemophilic arthropathy is caused by repeated joint bleeding episodes, primarily affecting knees, ankles and elbows. Conservative options should be considered prior to surgery, as well as postural evaluation, since any functional overload promotes the development of new bleeding. The aim of this study is to verify the use of foot orthoses in combination with postural rehabilitation, assessing the incidence of spontaneous haemarthroses and haematomas. In total, 15 patients were enrolled and randomly divided into two groups: 8 in group A, composed of patients who were prescribed foot orthoses and a 20-session rehabilitation program, and 7 in group B, composed of patients who were instructed to use foot orthoses only. All patients were evaluated at baseline (T0), at 3 months (T1—end of the rehabilitation program), and at 12 months (T2), using the following scales: Functional Independence Score in Haemophilia (FISH), Haemophilia Joint Health Score (HJHS) and Numerical Rating Scale (NRS). During the 12 months between the first and the last assessment, no patient in group A developed hemarthroses or hematomas, while one case of hemarthrosis was recorded in group B. The HJHS improved significantly (≤0.05) in group A at both T1 and T2, while in group B it improved significantly only in T2. As for FISH, it showed significant improvements in both groups at T1 and T2. NRS showed a significant reduction only at T2 in both groups (p-value T0–T1 0.3 in group A e 0.8 in group B). No patient reported any adverse effects from the use of orthotic insoles. The combination of postural rehabilitation, the use of foot orthoses and pharmacological prophylaxis could improve functioning and joint status in patients affected by haemophilic arthopathy, delaying or preventing new hemarthroses by improving the distribution of joint loads and the modification of musculoskeletal system’s characteristics. Full article

We aim (a) to introduce an easy-to-perform multi-echo gradient-echo sequence (mGRE) for the detection of hemosiderin deposition in the ankle joints of boys with haemophilia (b) to explore the associations between the presence and severity of hemosiderin deposition and the other components of haemophilic arthropathy, the clinical score, and the number and chronicity of joint bleeds. An MRI of 41 ankle joints of 21 haemophilic boys was performed on a 3 T MRI system using an mGRE sequence in addition to the conventional protocol. Conventional MRI and mGRE were separately and independently assessed by three readers, namely, two musculoskeletal radiologists and a general radiologist for joint hemosiderin. We set as a reference the consensus reading of the two musculoskeletal radiologists, who also evaluated the presence of synovial thickening, effusion, and osteochondral changes. Excellent inter-reader agreement was obtained using the mGRE sequence compared to the conventional protocol (ICC: 0.95–0.97 versus 0.48–0.89), with superior sensitivity (90–95% versus 50–85%), specificity (95.2–100% versus 76.2–95.2%), and positive (95–100% versus 71–94.4%) and negative predictive value (91.3–95.5% versus 87–63%). Hemosiderin deposition was associated with osteochondral changes, synovial thickening, clinical score, and the total number of ankle bleeds, while it was inversely related with the time elapsed between the last joint bleed and MRI. (p < 0.05). The application of an mGRE sequence significantly improved hemosiderin detection, even when performed by the less experienced reader. Joint hemosiderin deposition was associated with the other components of haemophilic arthropathy and was mostly apparent in recent joint bleeds. Full article

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. Full article

Haemophilic arthropathy (HA) is one of the most serious complications of haemophilia. It starts with joint bleeding, leading to synovitis which, in turn, can cause damage to the cartilage and subchondral bone, eventually inducing degenerative joint disease. Despite significant improvements in haemophilia treatment over the past two decades and recent guidelines from ISTH and WFH recommending FVIII trough levels of at least 3 IU/dL during prophylaxis, patients with haemophilia still develop joint disease. The pathophysiology of HA is complex, involving both inflammatory and degenerative components. Early diagnosis is key for proper management. Imaging can detect joint subclinical changes and influence prophylaxis. Magnetic resonance imagining (MRI) and ultrasound are the most frequently used methods in comprehensive haemophilia care centres. Biomarkers of joint health have been proposed to determine osteochondral joint deterioration, but none of these biomarkers has been validated or used in clinical practice. Early prophylaxis is key in all severe haemophilia patients to prevent arthropathy. Treatment is essentially based on prophylaxis intensification and chronic joint pain management. However, there remain significant gaps in the knowledge of the mechanisms responsible for HA and prognosis-influencing factors. Better understanding in this area could produce more effective interventions likely to ultimately prevent or attenuate the development of HA. Full article

Haemophilia is a rare genetic disorder, that results from various degrees of deficiency of coagulation factor VIII (haemophilia A), or factor IX (haemophilia B), with an X-linked transmission. The patients affected are in the majority of cases males (who inherit the affected X-chromosome from the maternal side), with rare cases of females with haemophilia (FVIII or FIX < 40 IU/dL), situations in which both X-chromosomes are affected, or one is affected, and the other one is inactive (known as carrier). The hypocoagulable state due to the deficiency of clotting factors, manifests as an excessive, recurrent tendency to bleeding, which positively correlates with plasmatic levels. Severe haemophilia results in hemarthrosis, although recent data have shown that moderate or even mild disease can lead to joint bleeding. Recurrent episodes of haemorrhages, usually affecting large joints such as knees, elbows, or ankles, lead to joint remodelling and subsequent haemophilic arthropathy, which may require arthroplasty as a last therapeutic option. Orthopaedic patients have the highest risk among all for deep vein thrombosis (DVT) and venous thromboembolism (VTE) with morbid and potentially fatal consequences. While for the rest of the population thromboprophylaxis in orthopaedic surgery is efficient, relatively safe, and widely used, for patients with haemophilia who are considered to have a low thromboembolic risk, there is great controversy. The great heterogeneity of this particular population, and the lack of clinical trials, with only case reports or observational studies, makes thromboprophylaxis in major orthopaedic surgery a tool to be used by every clinician based on experience and case particularities. This review aims to briefly summarise the latest clinical data and to offer an insight into the current recommendations that readers would find useful in daily practice. Full article

This narrative review aims to give an overview of some postural evaluation systems currently used in patients with haemophilia. Among them, first, we analyse the HJHS scale, recognized as a specific evaluation tool for haemophilic arthropathy. Second, we focus on other systems usually used in non-haemophilic patients that have also shown good applicability in this patient category, such as gait analysis, stabilometry, and baropodometric examination. This review underlines the use these tools could have in clinical practice to identify the early postural alterations in patients with haemophilia and set up personalised rehabilitation programs. Full article

Background: The aim of the study is to evaluate selected biomarkers of bone turnover, inflammation, neutrophil trap and factors predisposing haemophiliacs to bone loss, and to analyse their relationship with clinical features, treatment and complications. Methods: The levels of interleukin 6 (IL-6); citrullinated histone (CH3); osteocalcin (BGLAP); bone alkaline phosphatase (BALP); N-terminal procollagen type I propeptide (P1NP); and C-terminal collagen type I telopeptide (C1CP) were examined in 60 patients with haemophilia. Results: The cut-off value for BGLAP is 26.41 ng/mL, and 929.7 pg/mL for CH3. There is a statistically significant difference between BGLAP, BALP, C1CP and CH3 concentrations, depending on the prophylaxis used. The median concentration of BGLAP in patients taking the factor on demand is 28.0 ng/mL, BALP 322.5 U/L, C1CP 191.2 ng/mL and CH3 1114.4 pg/mL. In patients taking recombinant coagulation factor VIII/IX as prophylaxis of bleeding, the median BGLAP concentrations are 35.9 ng/mL, BALP 280.9 U/L, C1CP 161.6 ng/mL and CH3 952.5 pg/mL. BGLAP and BALP concentrations are dependent on the development of haemophilic arthropathic. Conclusions: The concentrations of selected markers of bone turnover and NETs may help to identify patients at particular risk of developing haemophilic arthropathy and bone metabolic turnover abnormalities. Full article

Some patients with moderate haemophilia (PWMH) report joint damage potentially responsible for gait disorders. Three-dimensional gait analysis (3DGA) is a relevant tool for the identification of complex musculoskeletal impairment. We performed an evaluation with 3DGA of 24 PWMH aged 44.3 ± 16.1 according to their joint status [Haemophilia Joint Health Score (HJHS) < 10 or HJHS ≥ 10] and assessed the correlation with the radiological and clinical parameters. Sixteen had HJHS < 10 (group 1) and eight had HJHS ≥ 10 (group 2). They were compared to 30 healthy subjects of a normative dataset. Both knee and ankle gait variable scores were increased in group 2 compared to the controls (p = 0.02 and p = 0.04, respectively). The PWMH of group 2 had a significant increase in their stance phase, double support duration, and stride width compared to the controls and group 1 (p < 0.01). Very low correlations were found for the ankle gait variable score with the ankle Pettersson sub-score (r² = 0.250; p = 0.004) and ankle HJHS sub-score (r² = 0.150; p = 0.04). For the knee, very low correlation was also found between the knee gait variable score and its HJHS sub-score (r² = 0.290; p < 0.0001). Patients with moderate haemophilia presented a gait alteration in the case of poor lower limb joint status. Full article

In people with haemophilia (PWH), elastic band training is considered an optimal option, even though the literature is scarce. The aim was to evaluate normalized electromyographic amplitude (nEMG), rate of perceived exertion (RPE), pain, tolerability, and possible adverse effects during the knee extension exercise using multiple elastic resistance intensities in PWH. During a single session, 14 severe PWH undergoing prophylactic treatment performed knee extensions without resistance and with different intensity levels of elastic resistance. nEMG was measured for the knee extensors and participants rated their RPE, tolerability and pain intensity after each condition. Patients had to report the possible adverse effects after the session. In most of the cases, an nEMG increase is only evidenced after increasing the resistance by two to three levels. Significant associations were found between RPE and the nEMG (ρ = 0.61), as well as between the elastic resistance level and nEMG (ρ = 0.69) and RPE (ρ = 0.71). All conditions were generally tolerated, without increased pain, and no adverse effects were reported. A wide variety of elastic resistance intensities during the knee extension are safe, tolerated, and do not increase knee pain in the majority of severe PWH undergoing prophylactic treatment. Full article

Physical activity (PA) is highly beneficial for people with haemophilia (PWH), however, studies that objectively monitor the PA in this population are scarce. This study aimed to monitor the daily PA and analyse its evolution over time in a cohort of PWH using a commercial activity tracker. In addition, this work analyses the relationship between PA levels, demographics, and joint health status, as well as the acceptance and adherence to the activity tracker. Twenty-six PWH were asked to wear a Fitbit Charge HR for 13 weeks. According to the steps/day in the first week, data were divided into two groups: Active Group (AG; ≥10,000 steps/day) and Non-Active Group (NAG; <10,000 steps/day). Correlations between PA and patient characteristics were studied using the Pearson coefficient. Participants’ user experience was analysed with a questionnaire. The 10,000 steps/day was reached by 57.7% of participants, with 12,603 (1525) and 7495 (1626) being the mean steps/day of the AG and NAG, respectively. In general, no significant variations (p > 0.05) in PA levels or adherence to wristband were produced. Only the correlation between very active minutes and arthropathy was significant (r = −0.40, p = 0.045). Results of the questionnaire showed a high level of satisfaction. In summary, PWH are able to comply with the PA recommendations, and the Fitbit wristband is a valid tool for a continuous and long-term monitoring of PA. However, by itself, the use of a wristband is not enough motivation to increase PA levels. Full article

Despite fall-related injuries having serious consequences for older haemophilic patients, few studies have investigated their postural stability and risk of falls. The aim was to examine postural stability, joint function and joint mobility in haemophiliacs and age-matched controls. Centre of pressure excursions in four 60 s balance conditions, two minute walk test, passive ankle and knee range of motion, Haemophilia Joint Health Score, and Haemophilia Early Arthropathy Detection with Ultrasound score were measured in eight men with haemophilia (people with heamophilia, PWH), and eight age-matched men without haemophilia (people without heamophilia, PWOH). PWH have significantly worse postural stability under physically perturbed conditions (p = 0.001–0.028, ${\mathsf{\eta }}_p^2$ = 0.19–0.34), reduced joint function (p = 0.001–0.010, d = 1.33–2.62) and mobility (p < 0.001–0.025, d = 1.01–4.61), and increased centre of pressure (CoP) velocity (p < 0.001–0.003) when compared to PWOH. Postural stability among PWH did not deteriorate with time standing, although significant decreases compared to PWOH across all time intervals were observed (Eyes Open Foam (EOF) CoP ellipse (time x group) p = 0.011, ${\mathsf{\eta }}_p^2$ = 0.28; path (time × group) p = 0.035, ${\mathsf{\eta }}_p^2$ = 0.21; EOF CoP antero-posterior (AP) (time × group) p = 0.021, ${\mathsf{\eta }}_p^2$ = 0.24). Joint function, mobility, and postural stability are reduced in PWH compared to PWOH, driven by differences in the CoP AP range. Dynamic tests incorporating physical perturbation may be more effective than static balance tests on a level surface, and longer period of time to assess postural stability may determine whether fatigue affects ability of PWH to maintain postural stability. Adoption of a possible ‘hip strategy’ by which to achieve balance suggests falls prevention programs need to focus on increasing hip strength and retraining ankle strategy movement to allow PWH to improve balance stability. Full article

Hip arthropathy in haemophilic patients is disabling for hip and other common target joints. Even if bleedings in the hip are not frequent, femoroacetabular alterations may affect the functional ability of patients at a very young age. A haematologic prophylaxis combined with an adequate lifestyle and regular and low-traumatic physical activity are the keys to preventing such arthropathy. In the early stages of arthropathy, anti-inflammatory drugs and physical therapy may be sufficient to limit its progression. In cases of recurrent symptoms, viscosupplementation with hyaluronic acid, and chemical synoviorthesis are useful options. In more advanced stages, hip arthroscopy may be treated by synovectomy or loose body removal. For late stages, total hip arthroplasty (THA) is mandatory. Until a few decades ago, the clinical outcomes after hip arthroplasty were variable, due to the different management of patients and the use of old generation implants and couplings. In the last decade, the introduction of the multidisciplinary management and the use of modern cementless implants with high performing materials and less invasive surgical techniques have dramatically improved the functional results. Nowadays, as is the case for other target joints, the purpose of the management in haemophilia centers is the early detection of any hip alterations—by clinical and ultrasound (US) evaluations of patients in childhood—to reveal any early articular damage and to provide adequate treatment in case of symptoms. The present paper represents an updated review of the several approaches to hip arthropathy in haemophilia. Full article