MPFL reconstruction and tibial tuberosity transposition in patients with patellar instability: May it troubleshots also trochlear dysplasia?

PURPOSE: This study aimed to highlight short- and medium-term outcomes of combined medial patello-femoral ligament (MPFL) reconstruction and anterior tibial tuberosity (ATT) transposition surgery in patients with recurrent patellar instability and different degrees of trochlear dysplasia. METHODS: Between January 2014 and May 2019, 25 patients with patellar instability underwent a surgical procedure combining the lowering/transposition of the ATT and the MPFL reconstruction. Each patient were preoperative assessed by Kujala score, International Knee Documentation Committee (IKDC), Tegner activity level scale. The assessment of instability predisposing factors was carried out with patellar height, tibial tuberosity-trochlear groove (TT-TG) distance, trochlear dysplasia, sulcus angle, patellar tilt and MPFL injuries. Functional outcomes were evaluated with Kujala, IKDC and Tegner scores at 3, 6 and 12 months after surgery. RESULTS: The average age of the patients was 20 years (range 13-43 years). Pre- operative Caton-Deschamps index was pathological in 10 (40%). Sulcus angle was elevated in 13 patients (52%) and TT-TG distance was irregular in 17 patients (68%). Trochlear dysplasia was present in 13 patients (9 type A, 3 type B, 1 type C according to Dejour's Classification). No re-dislocation occurred during the follow-up. There was a significant increase in the Kujala, IKDC and Lysholm scores after 3, 6 and 12 months, and the results were compared for the different follow-up times and patient's trochlear dysplasia degree. CONCLUSION: This prospective observational longitudinal study identified good clinical outcomes in patients who underwent MPFL reconstruction and ATT transposition for patellar instability. Finally, the different risk factors for patellar instability examined, particularly the presence of trochlear dysplasia, did not significantly influence the final functional results, which range from good to excellent without re-dislocation episodes.

The role of six biomarkers in diagnosis of hemophilic arthropathy: review of the literature.

The aim of our narrative review of the literature is to identify the role of six important biomarkers: synovial fluid thrombomodulin, fibroblast-like synoviocytes, synovial tissue growth factor , vascular endothelial growth factor in synovium and peripheral blood, urinary C-terminal telopeptide of type II collagen, and synovial fluid tumor necrosis factor alpha. These urinary, serum and synovial biomarkers illustrated should be evaluated in patients with hemophilic arthropathy for early diagnosis of hemophilic arthropathy, because they have important implications in the development of arthrofibrosis, altered inflammatory response and bleeding. Moreover, better knowledge of their biological activity is important to identify possible new biological treatment options.

Ageing successfully with haemophilia: A multidisciplinary programme.

INTRODUCTION: Persons with haemophilia (PWH) born before the middle 1970s have spent a substantial part of their lives without the benefits of replacement therapy, that became available on a relative large scale only during the 1970s. As a consequence, this group of PWH, although still relatively young, suffers from musculoskeletal and functional problems that are typical of old people. METHODS: We report herewith the short-term results of a project based upon a multidisciplinary training programme led by a physiotherapist and an occupational therapist, that was implemented over a period of 12 months in 40 patients with severe or moderate hemophilia A or B born before the middle 1970s and regularly followed-up at a comprehensive haemophilia treatment centre in Italy. The project was aimed to provide information and skills in order to empower the older PWH carrying physical handicaps and functional limitations that had resulted from the inadequate management in their early ages, and to enable them to cope more efficiently with their crippling disease and prevent further disabilities. RESULTS AND CONCLUSIONS: The comparison of the data obtained before and after the 12-month programme found marginal improvements, but the purpose of this programme was indeed to offer a blueprint for the future. In this respect, the level of satisfaction for the programme was very high and we expect that it will be implemented long-term by our older PWH.

Primary total knee replacement in hemophiliacs: experience of a single institution over fourteen years of surgical procedures.

This retrospective study reports clinical and functional orthopedic outcomes and complications after 14 primary total knee replacement (TKR) performed between 2000 and 2014. The mean age at surgery was 42 years (range 26-59), with a removal-free survival of 100% at the end of follow-up (months 109.85). The KSS score was 49.64 pre-operatively (range 31-63) and 78.14 at final follow-up (range 45-90), the KSS function score was 64.64 pre-operatively (range 35-80) and 84.57 at final follow-up (range 45-100). According to this study, there are three main factors that can influence long-term and early surgical outcomes: post-operative fibrosis, a previous synovectomy and presence of inhibitors. Even if our results are slightly suboptimal compared to those obtained in non-hemophilic patients, this study shows that TKR is an effective surgical procedure in hemophiliacs.

The biomolecular interactions between endothelium and bone cells: an overview.

Bone turnover is a complex set of different molecules pathways and it is strictly connected with bone vasculature. It includes every bone process concerning bone modelling and remodelling such us skeletal growth and healing process. A fundamental component of this bone architecture is played by the endothelium, that acts in a paracrine fashion on other bone stromal cells via humoral factors, growth factors and chemokines/cytokines. The alteration of those biochemical interactions between endothelium, vasculature and bone tissue may cause various pathological manifestations. Understanding the bases of the interaction between those different pathways could provide novel therapeutic strate¬gies for bone disease. The Authors present an updated overview of the most common communication biomolecules between bone cells and endothelium and their interactions both in healthy and pathological conditions. Furthermore, focusing on gene and related therapies, possible future therapeutic strategies for bone vasculature/metabolic diseases are presented.

Achievements, challenges and unmet needs for haemophilia patients with inhibitors: Report from a symposium in Paris, France on 20 November 2014.

Over the past 20 years, there have been many advances in haemophilia treatment that have allowed patients to take greater control of their disease. However, the development of factor VIII (FVIII) inhibitors is the greatest complication of the disease and a challenge in the treatment of haemophilia making management of bleeding episodes difficult and surgical procedures very challenging. A meeting to discuss the unmet needs of haemophilia patients with inhibitors was held in Paris on 20 November 2014. Topics discussed were genetic and non-genetic risk factors for the development of inhibitors, immunological aspects of inhibitor development, FVIII products and inhibitor development, generation and functional properties of engineered antigen-specific T regulatory cells, suppression of immune responses to FVIII, prophylaxis in haemophilia patients with inhibitors, epitope mapping of FVIII inhibitors, current controversies in immune tolerance induction therapy, surgery in haemophilia patients with inhibitors and future perspectives for the treatment of haemophilia patients with inhibitors. A summary of the key points discussed is presented in this paper.

Management of orthopaedic surgery in rare bleeding disorders.

Knowledge regarding the management of orthopaedic surgery in patients with rare bleeding disorders (RBDs) is limited. Retrospective data collection and analysis of 35 orthopaedic procedures (6 minor and 29 major) carried out in 22 patients with RBD between 1982 and 2013. These surgeries were performed using heterogeneous regimens of hemostatic therapy, except for seven procedures performed with no hemostatic treatment in four patients with mild factor deficiency. Of the 28 procedures carried out with hemostatic treatment, nine (32%) were performed using replacement therapy with dosages of concentrates of the deficient factor aimed to achieve perioperative plasma levels judged to be compatible with hemostasis; three (11%) using factor replacement therapy associated with fresh frozen plasma (FFP); four (14%) using recombinant activated factor VII; four (14%) using virus inactivated plasma alone; three (11%) using virus inactivated plasma associated with desmopressin; one (4%) using FFP alone; and four (14%) procedures using tranexamic acid alone. Bleeding complications occurred in 7 of 35 procedures (20%) involving five patients. Prophylaxis of venous thromboembolism was performed only in one case with no excessive bleeding, but two patients not on thromboprophylaxis developed superficial thrombophlebitis. A satisfactory control of hemostasis was achieved in most patients. In some of those characterized by mild factor deficiency (FVII, FXI) hemostatic treatment could be avoided in some instances. The control of hemostasis combined with an adequate surgical technique is needed for the successful outcome of orthopaedic surgery in RBDs that requires the involvement of specialized haemophilia centres.

Integrated postural analysis in children with haemophilia.

The maintenance of a correct posture in haemophilic boys might contribute to prevent joint bleeds, chronic pain and dysfunction. This single-centre study was aimed at evaluating whether or not postural alterations are more common in haemophilic than in non-haemophilic boys and whether they are related to the orthopaedic status. Posture and balance were investigated in boys with severe/moderate haemophilia (cases) and in age-matched non-haemophilic peers (controls). Thirty-five cases (89% with haemophilia A: 74% with severe disease) were included in the study and compared with 57 controls. Posture was evaluated on digital pictures of anterior, lateral and posterior views of the habitual standing position. Balance was examined with a portable force platform with eyes open and closed. The trajectory of the total body centre of force (CoF) displacement over the platform was computed by multiple planes obtaining different measures: sway area, velocity, acceleration and body loads. The joint status of cases was assessed with the Haemophilia Joint Health Score. Cases were more disharmonic than controls (52% vs. 26% in controls; P = 0.04), swayed significantly less and more slowly than controls (P < 0.05 for several parameters of CoF displacement) revealing stiffness of the musculoskeletal system. However, they were able to maintain their stance within a similar sway area. Haemophilic boys have more postural disharmonies than non-haemophilic peers, hence a global evaluation of the orthopaedic status should include also balance and posture examination to identify early dysfunction and establish a tailored physical or rehabilitation programme.

Orthopaedic surgery in patients with von Willebrand disease.

Patients with von Willebrand disease (VWD) may need orthopaedic surgery because of disabling chronic arthropathy due to recurrent joint bleeding. They may also require this surgery independently of their haemostasis disorder. Knowledge regarding the management of orthopaedic surgery in VWD is limited. Description of management of orthopaedic surgery in patients with VWD, based upon retrospective data collection and analysis of 32 orthopaedic procedures carried out over a period of 33 years in 23 patients was the aim of this study. Of 32 procedures, six were minor (three hand surgery, one foot surgery, two others) and 26 were major (seven joint replacements, nine arthroscopic procedures, two foot surgery, eight others). Twenty-two procedures were performed using replacement therapy with plasma-derived concentrates containing both factor VIII (FVIII) and von Willebrand factor (VWF). Two procedures in patients with acquired von Willebrand syndrome (AWVS) were performed using FVIII-VWF concentrates associated with intravenous immunoglobulins, or desmopressin plus tranexamic acid. Seven procedures were performed using desmopressin alone and one using intravenous immunoglobulins in AVWS. Bleeding complications occurred in seven procedures (22%). In one patient, an anti-VWF antibody was diagnosed after surgery. Anticoagulant prophylaxis of venous thromboembolism was implemented in four cases only and in two instances there was excessive bleeding. In conclusion, control of surgical haemostasis was achieved in most patients with VWD undergoing orthopaedic surgery. The control of haemostasis combined with an adequate surgical technique and early post-operative rehabilitation are warranted for the successful performance of orthopaedic surgery in VWD, which requires the involvement of specialized haemophilia centres.

Differences between developed and developing countries in paediatric care in haemophilia.

The aim of this article is to provide an up-to-date overview on paediatric haemophilia care in the world, with emphasis on medical treatment, rehabilitation, and orthopaedic surgery. The reason these specific professions caregivers are included is that over 90% of bleeding episodes in people with haemophilia (PWH) occur within the musculoskeletal system; and of these 80% of bleedings occur in joints.

Knee arthropathy: when things go wrong.

Joint bleeding, or haemarthrosis, is the most common type of bleeding episode experienced by individuals with haemophilia A and B. This leads to changes within the joints, including synovial proliferation, which results in further bleeding and chronic synovitis. Blood in the joint can also directly damage the cartilage, and with repeated bleeding, there is progressive destruction of both cartilage and bone. The end result is known as haemophilic arthropathy which is characterized by pain, stiffness and deformity. The joint most commonly affected is the knee. Haemophilic arthropathy can be prevented through regular prophylaxis and physiotherapy. However, when necessary, there are multiple surgical and non-surgical options available. These procedures are indicated to improve the joint function and quality of life for haemophilic patients worldwide. In this review, the role of surgical and non-surgical treatment of advanced knee arthropathy and its complications will be described.

Body structure versus body function in haemophilia: the case of haemophilic ankle arthropathy.

Imaging and clinical scores are the main tools used to evaluate the progression of haemophilic arthropathy (HA). Based on haemophilic ankle arthropathy, this study aimed to explore the concordances between structural and clinical alterations, determined by standard radiological and clinical scores, and functional alterations assessed by three-dimensional gait analysis (3DGA). In total, 21 adult haemophilia patients underwent extensive ankle evaluation using the physical examination part of the World Federation of Haemophilia joint score, the Arnold-Hilgartner and the Pettersson radiological scores, and self-reported ankle function assessment using the revised Foot Function Index. Significant associations were found between self-reported ankle function assessment and the three 3DGA variables representative of joint function (range of motion, peak plantar flexion moment, and peak power generated at the push-off phase). Radiological and clinical scores were compared with ankle muscle peak power measurement, the most reliable 3DGA gait variable for ankle function. No significant associations were found between both clinical and functional scores and the 3DGA functional assessment. This discordance may be explained by the lack of a direct relationship between functional alterations detected by 3DGA and the structural changes assessed using X-ray or clinical scoring. Another explanation may be the limitation of clinical and radiological scoring systems in properly determining the severity of HA. Functional assessments such as 3DGA should be used more frequently when monitoring the progression of ankle arthropathy or the effects of therapeutic interventions in adult haemophilia patients.

Management of arthrofibrosis in haemophilic arthropathy.

SUMMARY: Hemophilic arthropathy is one of the conditions most associated with arthrofibrosis and loss of range of motion. Progressive fibrosis of synovium leads to pain, spasm, and shortening of muscles, resulting in joint contractures and restriction of joint motion. It is common to see even young children with severe loss of motion of elbows, knees and ankles. Treatment should be primarily by physiotherapy, splintage, and corrective devices. The late or severe cases may require surgical correction in the form of soft-tissue procedures, osteotomy and especially joint replacement.

Sonography of the quadriceps muscle: Examination technique, normal anatomy, and traumatic lesions.

Lesions of the quadriceps muscle (QM) are frequently seen by sonographers, and in most cases they are the result of sports-related trauma. An accurate assessment of the severity of the lesion is essential, particularly when the patient is a professional athlete. In most cases, careful history-taking and a thorough physical examination are sufficient for making the diagnosis and indicating the most suitable imaging studies for each case. Clinical assessment alone, however, may not be sufficient for distinguishing contusions from small, partial tears or for estimating the size of a tear. Therefore, at least in patients who are professional athletes, imaging studies are necessary to plan appropriate therapy that will allow prompt functional recovery. Muscles cannot be visualized with conventional radiography, but it is used routinely in prepubertal patients because it can detect apophyseal detachments, which are the most frequent muscle lesion in this age group. Radiography is also useful when myositis ossificans is suspected. Magnetic resonance imaging, thanks to its excellent tissue contrast, allows simultaneous assessment of muscle, joint, and bone planes. It remains a second-line study due to its high cost and relatively low availability. It is also associated with various contraindications, the most important of which is the presence of a cardiac pacemaker. Ultrasonography has a number of advantages, including widespread availability, absence of contraindications, and low cost. It can also be used for dynamic studies of the muscle during contraction and relaxation, and if doubts arise, scans can easily be obtained of the contralateral muscle for comparison purposes. These qualities make it an excellent tool for follow-up of patients with QM lesions, when follow-up is necessary. This article reviews the anatomy of the QM, the technique used for standard ultrasound examination of this muscle, its normal appearance on ultrasound, and the sonographic characteristics of the most common traumatic lesions that affect it.

Radiosynoviorthesis in children with haemophilia.

Recurrent bleeding into joints represents the clinical hallmark of haemophilia and, if not adequately treated, it may cause chronic synovitis and degenerative arthropathy. The first treatment option of recurrent haemarthroses and/or chronic synovitis is represented by synoviorthesis, both chemical and radioisotopic, with a success rate of approximately 80% for both. However, radioisotopic synoviorthesis should be preferred because it makes it possible to obtain complete synovial fibrosis usually in one session, without the need for repeated injections, thus reducing the risk of bleeding complications and concentrate consumption. For all these reasons this procedure should be implemented and supported, particularly in developing countries.

Orthopaedic management of haemophilia arthropathy of the ankle.

Joint bleeding, or haemarthrosis, is the most common type of bleeding episode experienced by individuals with haemophilia A and B. This leads to changes within the joints, including synovial proliferation, which results in further bleeding and chronic synovitis. Blood in the joint can also directly damage the cartilage, and with repeated bleeding, there is progressive destruction of both cartilage and bone. The end result is known as haemophilic arthropathy. The joints most commonly affected are the knees, elbows and ankles, although any synovial joint may be involved. In the ankle, both the tibiotalar and subtalar joints may be affected and joint bleeding and arthropathy can lead to a number of deformities. Haemophilic arthropathy can be prevented through regular factor replacement prophylaxis and implementing physiotherapy. However, when necessary, there are multiple surgical and non-surgical options available. In early ankle arthropathy with absent or minimal joint changes, both radioisotopic and chemical synoviorthesis can be used to reduce the hypertrophied synovium. These procedures can decrease the frequency of bleeding episodes, minimizing the risk of articular cartilage damage. Achilles tendon lengthening can be performed, in isolation or in combination with other surgical measures, to correct Achilles tendon contractures. Both arthroscopic and open synovectomies are available as a means to remove the friable villous layer of the synovium and are often indicated when bleeding episodes cannot be properly controlled by factor replacement therapy or synoviorthesis. In the later stages of ankle arthropathy, other surgical options may be considered. Debridement may be indicated when there are loose pieces of cartilage or anterior osteophytes, and can help to improve the joint function, even in the presence of articular cartilage damage. Supramalleolar tibial osteotomy may be indicated in patients with a valgus deformity of the hindfoot without degenerative radiographic findings. Joint fusion, or arthrodesis, is the treatment of choice in the advanced stages of ankle arthropathy although total ankle replacement is currently available. Early ankle replacement components were associated with a poor outcome, but as implant designs have improved, there have been successful outcomes achieved. As the ankle is a commonly affected joint in many individuals with haemophilia, it is important to add to the knowledge base to validate indications and timing of surgical and non-surgical interventions in ankle arthropathy.

Synoviorthesis in haemophilia patients with inhibitors.

Recurrent bleeding into joints represents the clinical hallmark of haemophilia and, if not adequately treated, it may cause chronic synovitis and degenerative arthropathy. In haemophilia patients with inhibitors, a more severe degree of synovitis is often observed owing to the fact that treatment is more problematic in this setting. The first treatment option of recurrent haemarthroses and/or chronic synovitis is represented by synoviorthesis, both chemical and radioisotopic, with a success rate of approximately 80% for both. However, radioisotopic synoviorthesis should be preferred in inhibitor patients because it makes it possible to obtain complete synovial fibrosis usually in one session, without the need for repeated injections, thus reducing the risk of bleeding complications and concentrate consumption. For all these reasons this procedure should be implemented and supported, particularly in developing countries.

Total joint replacement in patients with inhibitors.

Today, total joint replacement is the treatment of choice for chronic haemophilic arthropathy of the knee and hip in developed and developing countries. After the last World Haemophilia Congress and Musculoskeletal Congress, we cannot say the same for haemophilic patients with inhibitors because elective surgery today is still limited to few centres and extremely few patients. This is because until the first half of the 1990s, performing surgery in haemophilic patients with inhibitors was associated with a high risk of bleeding. With the availability of activated recombinant factor VII, the first surgical procedures were performed, but they still remain limited because of the elevated costs of replacement therapy. Our goal for the future must be to ensure the same possibility of surgical intervention in haemophilic patients both with and without inhibitors. This will be possible, thanks to the experience of some centres with an increased number of patients, where today this kind of surgery is routinely performed.