Search Results (12)

Background: Hemophilia A and B are hereditary bleeding disorders that result in recurrent joint and muscle hemorrhages, leading to hemophilic arthropathy, muscle atrophy, and disability. Recent evidence suggests that physiotherapeutic interventions, including resistance training and manual therapy, may mitigate these effects, although comprehensive studies remain limited. This case series aimed to describe the outcomes of an eight-week physiotherapy program combining progressive resistance training and manual therapy in four adolescent boys (aged 11–17 years) with severe hemophilia. Methods: The program targeted joint function, muscle strength, ultrasound findings, and pain, with additional exploratory evaluation of neuroinflammatory and endothelial biomarkers: interleukin-18 (IL-18), C-C motif chemokine ligand 2 (CCL2), soluble intercellular adhesion molecule-1 (ssICAM-1), β-nerve growth factor (β-NGF), and soluble receptor for advanced glycation end-products (sRAGE). Results: After the intervention, Hemophilia Joint Health Score (HJHS) total scores decreased by 35–62%, indicating functional improvement, while muscle strength increased across most joints. No progression of arthropathy was observed on ultrasound (HEAD-US). IL-18 and ssICAM-1 levels decreased on average by 42% and 29%, respectively, whereas β-NGF and sRAGE increased by 39% and 11%, suggesting potential anti-inflammatory and neuroprotective responses. Conclusions: These descriptive findings indicate that individualized physiotherapy may serve as a supportive component of hemophilia care, while biomarker monitoring provides exploratory insight into treatment-related physiological responses. Full article

Objective: This study aimed to analyze pharmacokinetic and clinical parameters (bleeding rates and joint health) before and after switching from standard half-life (SHL) factor VIII (FVIII) to extended half-life (EHL) PEGylated turoctocog alfa pegol in patients with severe/moderate hemophilia A (HA) on prophylaxis, one year prior to and following the switch in a real-world setting. Methods: A single-center, comparative, observational, sequential, retrospective, multidisciplinary study was designed. The population pharmacokinetic parameters were estimated using the WAPPS-Hemo^® platform. The annualized bleeding rate (including total and joint bleeds), joint health (Hemophilia Joint Health Score), FVIII consumption, administration frequency, and treatment costs were analyzed. Results: Eight patients with severe (n = 7) or moderate (n = 1) HA on prophylaxis were included after switching to turoctocog alfa pegol. With this regimen, the median FVIII half-life was 16.8 (15.2–19.1) hours, the area under the curve (AUC) was 18,182 (12,879–21,214) IU·h/dL, and the incremental recovery was 2.2 IU/dL per (1.6–2.4) IU/kg. The patients required a median of 2.0 infusions per week (2.0–2.0), corresponding to a weekly consumption of 57.8 (54.2–61.1) IU/kg. Clinically, the prophylactic regimen was associated with fewer infusions per week, stable joint health, and a reduction in overall treatment costs. Conclusions: Prophylaxis with turoctocog alfa pegol provided the expected pharmacokinetic profile of an EHL-FVIII concentrate, enabled a lower infusion frequency, and was linked to a decreased treatment burden and cost while maintaining joint health. Full article

Background/Objectives: The approach to physical activity in people with hemophilia (PwH) is still conditioned by many difficulties. Thus, a prospective observational pilot study has been carried out aiming to evaluate how an adequate and controlled training program can slow down the onset or evolution of arthropathy and improve musculoskeletal health and quality of life. Methods: Performed from April 2022 to April 2023, this study involved nine severe hemophilic A and B patients, aged > 18 years old, on regular prophylaxis with replacement products. Participants, without changing the usual prophylaxis schedule and maintaining a trough level of at least 20% FVIII/FIX before training, were involved in physical activity twice a week. Results: After 12 months, no increase in annual bleeding ratio (ABR) was observed, and baseline joint status (as assessable by HEAD US score, HJHS, and NRS) was maintained. Even if not statistically significant, a trend toward improvement in mean HEAD US score (15.55 vs. 13.11) and HJHS (14.4 vs. 11) from baseline was observed. Some of the physical tests performed showed a significant improvement at 6 months and 12 months from baseline (5 Rep Sit to Stand, Sit and Reach, and 6-minute Walking Test), meaning an improvement in leg strength, dorsal flexibility, and aerobic resistance. Conclusions: This is the first pilot study evaluating at 360 degrees the safety and impact of a controlled physical activity in PwH. No participant experienced bleedings or a worsening in joint status, but they experienced an improvement in articular functionality. Without changing the usual prophylaxis, scheduling training sessions according to individual pharmacokinetics turned out to be a safe and a cost-effective approach. Full article

Background: Articular damage is a marker of hereditary hemophilia, especially affecting the large joints of the upper and lower limbs. This retrospective study aimed to emphasize that hereditary coagulopathies, specifically hemophilia A and B, require a multidisciplinary approach due to their complex nature. The primary objectives of the paper are to determine the prevalence of hemophilic arthropathy among individuals with hemophilia in the northeastern region of Romania, identify the most frequently affected joints, and assess whether there is a correlation between the development of hemophilic arthropathy, the type of hemophilia, and the treatment received. The secondary objectives of the work are to identify a series of particularities regarding the occurrence of the comorbidities depending on the type of hemophilia and the treatment and severity of arthropathies. Materials and Methods: We conducted a retrospective study that included 36 adults with hemophilia A and B. The status of the osteoarticular system was evaluated using the modified Hemophilia Joint Health Score (mHJHS). Twelve joints were evaluated using the following parameters: swelling, duration of swelling, muscle atrophy, joint pain, crepitus on motion, flexion loss, and extension loss. Results and Discussions: The most severe damage was found in the joints of the knees, ankles, elbows, and wrists. In the knees, severe damage was noted significantly more frequently in the right knee (50% vs. 33.3%; p = 0.001). In the ankles, a higher frequency of mild damage to the left ankle was noted (44.4% vs. 27.8%; p = 0.002). The severe form of hemophilia was correlated with severe joint damage (p < 0.05). Comorbidities like cardiovascular disease, obesity, viral infection (HCV infection), and gastrointestinal disease were found in the hemophilia population of our study. All patients with HCV infection had severe joint damage, while 38.5% of patients without HCV infection had mild joint damage, and 30.8% had no joint damage (p = 0.001). In all patients with HCV virus infection, the treatment was short-term substitution (intermittent prophylaxis), while in 53.8% of patients without HCV virus infection, the treatment consisted of continuous prophylaxis (p = 0.001). Conclusions: It is currently essential to determine methods for comprehensive hemophilia care that involves multidisciplinary medical services necessary for the diagnosis, treatment, and management of the condition and its complications and comorbidities. Full article

Background/Objectives: Hemophilia A is an X-linked recessive illness produced by a deficiency of coagulation factor VIII. This study aimed to evaluate serum vitamin D in hemophilic pediatric patients and its correlation with joint health and quality of life. Methods: This case-control study was performed on ninety children under the age of 18 years old and separated into two groups: study group of 45 children with hemophilia A and control group of 45 healthy children at an outpatient pediatric hematology clinic at the Beni-Suef University hospitals. Results: Serum vitamin D levels were significantly lower in hemophilia A patients than in controls (p < 0.001). The level of serum vitamin D was deficient in 38 (84.4%), insufficient in 4 (8.8%) and sufficient in 3 (6.6%) in the study group while deficient in 8 (17.7%), insufficient in 16 (35.5%) and sufficient in 21 (46.6%) in the control group. Total hemophilia joint health score (HJHS) had a significant negative correlation with serum total calcium (R = −0.31, p = 0.038) and serum vitamin D level (R = −0.974, p < 0.001) while also positively correlated with alkaline phosphatase (R = 0.834, p < 0.001). A quality-of-life index that is specific to total hemophilia (Haemo-Qol/Haem-A-QoL) had a significant positive correlation with total hemophilia joint health score (HJHS) (R = 0.934, p < 0.001) and negatively correlated with serum vitamin D level (R = −0.924, p-value lower than 0.001), alkaline phosphatase (R = 0.842, p < 0.001), and severity of hemophilia (R = 0.67, p < 0.001). Conclusions: patients with hemophilia A had lower vitamin D levels than healthy controls. The severity of vitamin D deficiency is related positively to (HJHS) hemophilia and quality of life hemophilia cases according to Haemo-QoL. Full article

Intra-articular blood, iron and hemosiderin, hydroxyl radical cytokines, and neo-angiogenesis cause synovial inflammation, which leads to cartilage and joint damage. Platelet-rich plasma (PRP) inhibits most of the mediators that produce and maintain synovitis. We compile here our work showing the clinical effectiveness of intra-articular PRP injections and their potential role in stopping articular cartilage damage due to bleeding and its possible repair. A total of 116 joints, including knees (63%), elbows (19.8%), and ankles (17.2%), were treated with intra-articular injections of PRP. Moreover, we also show here the number of extracellular DNA traps (ETs) and the PRP effect in the synovial fluid of patients at the time of treatment and six months after. Clinically, it is demonstrated that PRP is effective in reducing bleeding episodes (p < 0.001) and pain (p < 0.0001) and improving the hemophilia joint health score (HJHS) (p < 0.001) at one year of follow-up. Furthermore, our results demonstrate that PRP inhibits ET formation in vitro and reconstitutes the immune system’s cellular components in the synovial fluid of patients after treatment. We conclude that PRP can be considered an effective, safe, and easy treatment for hemophilic synovitis. Full article

Background: Hemophilia is a inherited bleeding disorder that is characterized by intra-articular bleeding (hemarthrosis). The aim of the study was to evaluate the state of the satellite tendons of the target joints in the patient with hemophilic arthropathy and propose rehabilitation treatment with eccentric exercises. Methods: The tendons of the joints mainly affected by hemophilic arthropathy were evaluated by ultrasound. The ultrasound evaluation is associated with the use of evaluation clinical scales, such as the Hemophilia Joint Health Score (HJHS), the Functional Independence Score in Hemophilia (FISH), the Hemophilia Activity List (HAL), the DASH, the VISA-A, the VISA-P, and the VAS scale. Results: In 20 patients with hemophilic arthropathy, the thickness of the tendons that were examined was normal. In six subjects with severe joint damage, echostructural alterations were present, and signs of hyperemia and neo-vascularization were detected on color Doppler, as well as the presence of intratendinous calcifications. Conclusions: The tendons of the target joints in patients with hemophilic arthropathy are compromised by the indirect biomechanical damage caused by the joint disease, and rehabilitation treatment with eccentric exercises can be considered safe and effective in improving the tenso-elastic properties of the tendons. Full article

(1) Background: Hemarthrosis is a typical clinical manifestation in patients with hemophilia. Its recurrence causes hemophilic arthropathy, characterized by chronic joint pain. Watching movement recorded from a first-person perspective and immersively can be effective in the management of chronic pain. The objective of this study was to evaluate the effectiveness of an immersive virtual reality intervention in improving the pain intensity, joint condition, muscle strength and range of motion in patients with hemophilic knee arthropathy. (2) Methods: Thirteen patients with hemophilic knee arthropathy were recruited. The patients wore virtual reality glasses and watched a flexion–extension movement of the knee on an immersive 180° video, recorded from a first-person perspective over a 28-day period. The primary variable was the pain intensity (visual analog scale). The secondary variables were the joint status (Hemophilia Joint Health Score), quadriceps and hamstring strength (dynamometry), and range of motion (goniometry). (3) Results: After the intervention period, statistically significant differences were observed in the intensity of the joint pain (Standard error [SE] = 19.31; 95% interval confidence [95%CI] = −1.05; −0.26), joint condition (SE = 18.68; 95%CI = −1.16; −0.52) and quadriceps strength (SE = 35.00; 95%CI = 2.53; 17.47). We found that 38.46% and 23.07% of the patients exhibited an improvement in their quadriceps muscle strength and joint condition above the minimum detectable change for both variables (8.21% and 1.79%, respectively). (4) Conclusions: One hundred and eighty degree immersive VR motion visualization can improve the intensity of joint pain in patients with hemophilic knee arthropathy. An intervention using immersive virtual reality can be an effective complementary approach to improve the joint condition and quadriceps strength in these patients. Full article

Hemophilia is characterized by recurrent bleeding into the joints leading to irreversible chronic arthropathy with reduced joint range of motion (ROM), which may lead to changes in gait patterns. To analyze the gait pattern in a 35-year-old male with severe hemophilia A, three-dimensional biomechanical analysis was performed during overground walking. The control group data from a public gait dataset of 10 healthy male individuals were used for comparison. The clinical examination was assessed with the Functional Independence Score in Hemophilia (FISH), Haemophilia Activities List (HAL), and Hemophilia Joint Health Score (HJHS). The biomechanical analysis demonstrated a pattern for both left knee and ankle joints with greater similarity to the control group compared to the right knee and ankle joints. ROM based on the HJHS questionnaire also showed greater impairment of the right-side knee joint compared to the left-side knee joint. This unique pattern could be the result of a compensation mechanism due to limited movement during the walking task and the surgical treatment. Full article

Hemophilic arthropathy causes the damage of synovium, cartilage, and subchondral bone. The present study evaluated the safety and the effect of extracorporeal shockwave therapy (ESWT), a safe treatment widely used in musculoskeletal conditions in patients with hemophilic arthropathy. Between 1 August 2019 and 31 July 2020, seven hemophilia A patients were enrolled and treated with medium-energy ESWT on the knee joint in the first two months after prophylactic coagulation factor administration. At the beginning of the study and at 1-, 2-, 3-, and 6-month follow-ups, the Hemophilia Joint Health Score (HJHS), visual analog scale score (VAS), and Hemophilia Early Arthropathy Detection with Ultrasound score (HEAD-US) were evaluated for therapeutic effectiveness and safety, while serum bone morphogenetic protein 2 (BMP-2) and von Willebrand factor (vWF) levels were analyzed for assessing chondroprotection and bone healing. Magnetic resonance imaging (MRI) of the knee was performed at the beginning of the study and the 6-month follow-ups. As a result, a non-significant decrease in VAS scores (p = 0.151) but not HJHS after treatment was noticed. At the 3-month follow-up, there was a non-significant increase in BMP2 levels (p = 0.171) but not vWF. Ultrasonography showed no disease activity score elevation in five patients and no further disease damage in all patients. Repeated MRI examinations in three patients showed no structural progression during the 6-month follow-up. As to adverse events, redness, local heat, and mild swelling were noted in five patients without breakthrough bleeding. We concluded that medium-energy ESWT might be safe for hemophilic arthropathy once prophylactic coagulation factors are administered. Full article

Background: Handwriting is a complex task that requires the integrity of different sensorimotor components to be performed successfully. Patients with hemophilia suffer from recurrent joint bleeds that may occur in the elbow, causing elbow dysfunction with handwriting performance impairment. In our study, we described instrumental dysgraphia that is related to functional disturbances. This pilot study aims to evaluate the handwriting performance in a group of patients with hemophilia. Methods: The study was performed at the Angelo Bianchi Bonomi Hemophilia and Thrombosis Center in Milan. Boys with severe and moderate hemophilia A and B regularly followed-up at that Center, with age between 6–19 years, were eligible. Patients were invited to the Center for one multidisciplinary evaluation of the upper limbs that included: Clinical examination, surface electromyography, and handwriting assessment. Results: All patients, but one, completed handwriting assessment. Overall, 14/19 (74%) had abnormal handwriting, which was overt instrumental dysgraphia in six (32%). There was no difference in Hemophilia Joint Health Score (HJHS) between dysgraphic and non-dysgraphic boys, while surface electromyography (sEMG) revealed a prevalence of flexor muscles of the upper limb in dysgraphic as compared with non-dysgraphic boys. Conclusions: The rather high prevalence of instrumental dysgraphia found in this pilot study deserves a further development of this preliminary experience by increasing the number of examined patients and comparing them with a control group, including quality of life and psychological assessment. Full article

Among different groups of hemophiliacs, those suffering from Severe Hemophilia A (SHA) are most vulnerable to the complications of the disease. This study investigated the Health-Related Quality of Life (HR-QoL) among adult patients with SHA. A cross-sectional study was designed to gather demographic and clinical information from adult patients with SHA. Patients with inhibitors were excluded. The remaining were asked to complete the HR-QoL questionnaire after being examined for joint health using the Hemophilia Joint HealthScore (HJHS). The HR-QoL and joint conditions were measured in 38 patients. The mean EQ-5D value scores were 0.46 (SD = 0.23) while the mean Visual Analogous Scale score was 50 (SD = 18.7). The clinical examination of patients indicated that the HJHS were as follows: eight patients had a score of 55–75, 12 patients had a score of 40–55, 7 of them (25–40) and 11 patients had a score of 10–25. The results obtained from this study showed that HR-QoL in hemophilia patients was considerably low. Pain, anxiety/depression, and motion limitations were the main causes of the disutility for these patients respectively. Full article