Management of musculoskeletal complications of hemophilia

Prophylactic treatment from ages 2 to 18 years could prevent the development of hemophilic arthropathy if the concentration of the patient's deficient factor is kept from falling below 1% of normal. Early treatment is of paramount importance because the immature skeleton is very sensitive to the complications of hemophilia. Major hemarthrosis and chronic hemophilic synovitis should be treated aggressively to prevent hemophilic arthropathy. When advanced hemophilic arthropathy is present with severe disability, the aim should be to restore function while minimizing the risk to the patient. Joint debridement is an effective method to achieve this goal, especially around the elbow or ankle, and can be considered an alternative to knee replacement in the younger age groups. Proximal tibial valgus osteotomy is a reliable treatment method for painful genu varum of the mobile hemophilic knee. Supramalleolar tibial varus osteotomy is an attractive alternative to the more commonly used surgical option of arthrodesis. Finally, joint replacement can usually be relied on to restore both mobility and function in a diseased joint. The potential benefits of joint replacement must always be weighed against the long-term sequelae, however, especially loosening and consequent revision surgery.     

Total joint arthroplasty in haemophilia

In severely affected haemophilic patients arthropathy is a common problem which can lead to considerable pain and functional deficit. Surgical management, including total joint arthroplasty, can be undertaken if conservative management fails. A search of the literature showed that a number of studies describing the use of total knee arthroplasty (TKA) and total hip arthroplasty (THA) in haemophilia have been published, whereas shoulder, elbow and ankle arthroplasties are confined to case reports. This paper reviews the functional outcome of arthroplasty in the different joints, the postoperative and long-term complications, and the impact of HIV. Although complications are commonly described and the surgery is technically demanding, the results suggest that arthroplasty, particularly of the hip and knee, can be a valuable option in the management of severe haemophilic arthropathy.     

Clinical outcomes and patient satisfaction following total joint replacement in haemophilia – 23‐year experience in knees,hips and elbows

Summary. Joint replacement surgery is an available option for end‐stage haemophilic arthropathy. However, reports with long‐term follow‐up are limited. Moreover, patient satisfaction in this setting has never been measured. We share our institution’s experience with joint arthroplasty in haemophilic arthropathy and report on clinical outcomes and patient satisfaction. Between 1985 and 2007, 65 consecutive joints in 45 patients (mean age: 48.6; range: 22–83) underwent joint replacement surgery. Of these, 40 total knee replacements in 31 patients, 18 total hip replacements in 16 patients and 6 total elbow replacements in 3 patients were included. Average follow‐up was 10.7 years (2.4–24.3). Charts were reviewed retrospectively and patients were asked to return for clinical assessment and completion of questionnaires. According to the Knee Society clinical score, postoperative results were good to excellent in 83% of knees. According to the Harris Hip Score, results were good to excellent in 31% of hips. According to the Mayo Elbow Performance Score, results were good to excellent in 83% of elbows. Complication rates are higher than in the non‐haemophilic population, while prosthesis survival rates are lower. Patient satisfaction with pain relief is higher than satisfaction with functional improvement. For 88% of joints, patients are willing to have the same operation again. This study confirms previous knowledge on the role of total joint arthroplasty in haemophilic arthropathy. Despite high complication rates and modest functional outcomes, the operations are valuable for achieving pain relief. In general, patients find that risks are outweighed by the benefits.     

Perioperative clotting factor replacement and infection in total knee arthroplasty

Total knee arthroplasty, or replacement (TKR), is now the most commonly performed surgical procedure performed in adults with haemophilia. It is indicated when end-stage haemophilic arthropathy results in intractable pain and reduced function. In patients with haemophilia, however, there has always been a concern about the high risk of infection, which carries with it potentially catastrophic consequences. The aims of this study were to review the case series of TKR for haemophilic arthropathy published in the medical literature, comparing the published infection rates and the differing clotting factor replacement regimes employed. Nineteen retrospective case series were identified; representing 556 TKR's in 455 patients with an overall infection rate of 7.9%. Case series which maintained a high level of clotting factor replacement throughout the first two postoperative weeks, however, had an infection rate of 2.15%, significantly lower than that of case series using the clotting factor replacement regime currently recommended in the World Federation of Hemophilia guidelines (9.22% P = 0.00545). We believe this study supports the use of a high level clotting factor replacement regime, replacing clotting factors to maintain them at a higher level for a longer period of time than currently recommended in international guidelines.     

Functional kinesiology in haemophilia, an area yet to be explored

Summary. In haemophilic arthropathy there is a progressive limitation of the range of motion (ROM) which may lead to disabilities in the activities of daily living (ADL). In the literature the pathology of haemophilic arthropathy is described extensively, but only one paper describing functional limitations caused by limited range of motion (LOM) in haemophilia was found. The aim of the pilot study was to estimate on theoretical grounds, how many patients with haemophilia might suffer from functional disabilities. Material: ROM of elbows, knees and ankles of 155 Haemophilia A and B patients. Methods: flexion and extension were measured with an ordinary goniometer. The ROM of joints of patients with haemophilia was compared with normal values. Results: 39 of 155 patients had a normal ROM in both elbows; 22 in one elbow; 34 patients had disabilities in ADL with both arms; 14 with one arm; 18 were able to compensate; 89 had no problems; 79 of 155 patients had a near normal ROM of both knees; 38 patients could not ride an ordinary bicycle. Conclusion: only limited data are available concerning the normal ROM needed for individual ADL. Until additional data are available, it is not possible to predict which patients will be disabled in their activities of daily living and individual counselling should be done during the yearly outpatient comprehensive care clinics. Conservative and surgical measures should be taken to ensure elbow flexion of at least 120° and knee flexion of 100° for Western societies. In Asian countries patients with haemophilia need maximum knee flexion and ankle dorsi flexion.     

Neuropathic arthropathy caused by Arnold–Chiari malformation with syringomyelia

We report a case of neuropathic arthropathy caused by Arnold–Chiari malformation with syringomyelia, with details of the clinical and radiologic aspects. The patient had pain and stiffness in his left upper limb. MRI of the left shoulder revealed neuropathic arthropathy. Upon examination, his left elbow also had the characteristic findings for neuropathic arthropathy. Examination of the spinal cord by MRI confirmed Arnold–Chiari malformation associated with syringomyelia. Neuropathic arthropathy requires evaluation of the spinal cord to assess for occult causal lesions.     

Management of fixed flexion contracture of the elbow in haemophilia

The authors stress that prevention of flexion contractures and artropathy by early factor replacement and physical therapy for every haemophiliac is the standard of care. Physical therapy, serial casting, and Quengel cast correction have not proven successful in correction of fixed flexion contractures at the elbow. In the patient who has a flexion contracture that interfered with function, an attempt at physical therapy combined with the use of either the Dynasplint or Flowtron will be tried. If there is no response, a surgical synovectomy combined with a possible radial head resection and anterior capsular relase would be the authors’ procedure of choice. In the face of advanced arthropathy, the authors would consider a distraction arthroplasty.     

An outline of the current orthopaedic management of haemophilic disease of the upper limb

There remains a relative paucity in the literature regarding upper limb manifestations of haemophilic arthropathy. Haemophilia has a wide range of clinical manifestations, often presenting with orthopaedic complications. These arise from multiple haemarthroses which exact a cumulative toll on the fabric of the joints. Although the lower limbs are predominantly affected due to their load-bearing nature, upper limb disease is common. This arises from the mechanical demands on the upper limb as the elbow and shoulder become partially weight bearing on use of walking aids such as elbow crutches.     

Neuropathic arthropathy progressing with multiple joint involvement in the upper extremity due to syringomyelia and type I Arnold-Chiari malformation

Neuropathic arthropathy (NA), known as Charcot neuroarthropathy, is a chronic, degenerative arthropathy and is associated with decreased sensory innervation. Numerous causes of this arthropathy have been described. Neuropathic joint, although first described by Charcot in tabes dorsalis in 1868, has subsequently been observed in a variety of conditions including syringomyelia, diabetes mellitus and peripheral nerve disorders. Syringomyelia is characterized by slow progression. The shoulders and elbows are the most frequently involved joints in syringomyelia. Involvement of the hand is a quite rarely seen in the cases of NA caused by syringomyelia. In this article, we reported a case of NA secondary to syringomyelia. The characteristics of this presented case is the presence of Arnold-Chiari malformation accompanying with syringomyelia and involvement of the shoulder, elbow and hand (multiple joint involvement).     

Charcot arthropathy of elbow due to syringomyelia: a case series and systematic review of literature

Clinical Rheumatology - Syringomyelia is an important etiology of Charcot arthropathy of the elbow. We present five interesting patients, along with a systematic literature review summarizing the...     

Isotopic synovectomy with P-32 in paediatric patients with haemophilia

Isotopic synovectomy is being proposed as an option in the treatment of patients with haemophilic arthropathy. We present our experience with 11 paediatric patients who underwent 17, P-32 isotopic synovectomies for chronic haemophilic arthropathy. P-32 was injected into the joint per protocol, approved by the institutional review board. All our patients were male. Nine were factor VIII and two were factor IX deficient. The following joints were treated: ankle (n=10 procedures), elbow (n=5) and knee (n=2). The first procedure was performed on December 1993. None were human immunodeficiency virus positive. Mean age at the first procedure was 10.8 years (range, 5.2-15.2 years). Mean pretreatment joint clinical scores using the World Federation of Hemophilia guidelines for the ankle was 5.5 (SD +/- 2.3), the elbow 4.2 (+/-2.5), and knee 5.5 (+/-3.5); the corresponding post-treatment scores were 2.6 (+/-2.0), 1.4 (+/-0.5) and 2.5 (+/-3.5) respectively. Presynovectomy mean radiological scores using the Pettersson method were: ankle 1.8, elbow 1.8, and knee 1.5. A scoring system used in our centre for evaluating joints using magnetic resonance imaging (MRI) gave the following mean pretreatment scores: ankle 9.5, elbow 8.4, and knee 5.0. A marked decrease (an 80-100% decrease) in bleeding was seen in 13 of 17 procedures, and a moderate decrease (51-79% decrease) in two procedures, accounting for 85% reduction in bleeding into the target joints. The procedure was well tolerated and no untoward side-effects were noted as of May 1999, with a median follow-up of 40 months (range 19-65 months). None had any clinical evidence of cancer. Three patients had their joints retreated [elbow (one), ankle (two)]. These procedures were also well tolerated. In conclusion, in our study, isotopic synovectomy using P-32 appears to be feasible, safe and efficacious in the treatment of haemophilic arthropathy in paediatric patients who have been followed for a median of 40 months. As previously shown, MRI appears to give more detailed information about joint arthropathy than plain radiographs.     

Successful angiographic embolization of recurrent elbow and knee joint bleeds in seven patients with severe haemophilia

Summary.  In haemophilic joints with high-grade arthropathy, bleeds occur that do not respond to replacement therapy of the deficient coagulation factor. The reason may be pathologically reactive angiogenesis in chronic synovitis. Seven patients with severe haemophilia A or haemophilia B experienced recurrent massive bleeds of one elbow joint or knee joint in the absence of trauma. After initial application of factor VIII or IX (fVIII/fIX; 50 IU kg⁻¹ bodyweight), there was only slow and never complete relief of symptoms. Despite intensive secondary prophylaxis maintaining the plasma level of factor concentrate at minimum 50%, new massive bleeds at the same location occurred. Vascular bleeding was suspected. Angiography of the arteries was performed via the femoral artery. Vessels identified as potential bleeding sources were embolized with embolization fluid (ONYX) in eight joints (six elbow and two knee joints). Under low-dose prophylactic treatment (15 IU fVIII or fIX per kg bodyweight for three times per week), no recurrent severe bleed unresponsive to coagulation factor replacement occurred after a mean observation time of 16 months after embolization. The consumption of factor concentrate decreased to one-third of the amount consumed before embolization. In conclusion, angiographic embolization with a non-adhesive liquid embolic agent might be considered as a promising therapeutic and coagulation factor saving option in joint bleeds not responding to replacement of coagulation factor to normal levels.     

Effects of myofascial release on frequency of joint bleedings,joint status,and joint pain in patients with hemophilic elbow arthropathy: A randomized,single-blind clinical trial

Background:Chronic joint injury of the elbow joint is common in patients with hemophilia. Myofascial release is used for the management of pain and functionality in patients with chronic restrictions.Objective:To evaluate the effectiveness of myofascial release in patients with hemophilic elbow arthropathy.Methods:Sixty-nine patients with hemophilia took part in this randomized controlled trial. They were recruited from 10 hemophilia patient Associations. They were randomly allocated to experimental (n = 35) or control group (n = 34). The intervention consisted of three 50-min sessions of fascial therapy over a 3-week period. The intervention included 11 bilaterally administered maneuvers in both upper limbs (from shoulder girdle to forearm). The study variables were frequency of elbow bleeding (self-report), joint status (Hemophilia Joint Health Score), and joint pain (visual analog scale) at baseline, after the intervention, and at the 3-month follow-up.Results:There were significant changes (P < .001) in the repeated measures factor in the frequency of hemarthrosis (F = 20.64), joint status (F = 31.45), and perceived joint pain (F = 30.08). We found group interaction with the (P < .001) in the frequency of hemarthrosis (F = 21.57), joint status (F = 99.98), and perceived joint pain (F = 44.26). There were changes (P < .01) in the pairwise comparison analysis between the pretreatment assessment and the posttreatment and follow-up assessments.Conclusions:Myofascial release decreases frequency of elbow bleedings, and improved joint status and perception of elbow pain in patients with hemophilic elbow arthropathy. Myofascial release may be recommended to improve joint status and joint pain in patients with hemophilic elbow arthropathy.     

An uncommon cause of elbow synovitis in an adult haemophilia patient

We present the case of an adult haemophilia patient that at clinical examination showed intense painless synovitis in his left elbow, with full range of movement, which was unresponsive to 1 month of on-demand haematologic treatment at home. Radiological examination demonstrated a spontaneous displaced fracture of the olecranon secondary to severe osteolysis, due to advanced haemophilic arthropathy. Then, the patient was treated with a posterior plaster splint to immobilize the joint for 3 weeks together with secondary prophylaxis (3000 IU twice a week for 3 months). One month later the patient was better, with full range of movement, and the amount of swelling had improved. Regarding the outcome of the fracture, 6 months later there was no healing of the fracture, and the patient developed a painless nonunion that allowed him to return to his preinjury activities of daily living. As far as we know, this rare combination of problems (unresponsive synovitis, severe haemophilic arthropathy, spontaneous elbow fracture) has not been previously published in the literature.     

HFE gene mutations are associated with osteoarthritis in the index or middle finger metacarpophalangeal joints

OBJECTIVE:. To test the hypothesis that possession of either C282Y or H63D mutations in the HFE gene is associated with primary osteoarthritis (OA) in joints commonly affected in hemochromatotic arthropathy. METHODS: HFE genotyping was performed in 87 patients with radiologically proven OA in 3 joint regions: index or middle finger metacarpophalangeal joints (MCP2,3; n = 52), elbow joints (n = 8), ankle, intertarsal or tarsometatarsal joints (ankle/IT/TMT; n = 27); and in 56 patients with radiologically proven OA in finger interphalangeal (IP) joints, but not MCP2,3 joints (IP OA control group). HFE mutation frequencies in these groups were also compared to those in a similar population (Busselton population control group). RESULTS: A statistically significant association between HFE mutations and OA was observed for the MCP2,3 joints (p = 0.0001) and the ankle/IT/TMT joint group (p = 0.002) as well as for the 3 joint regions collectively (p = 0.0001), but not for the elbow joints (p = 0.062). Comparison with the Busselton population controls showed similar statistically significant associations, except for the elbow and ankle/IT/TMT groups, where similar trends were observed. CONCLUSION: HFE gene mutations are associated with OA in the MCP2,3 joints. These mutations may be markers for a polyarticular OA phenotype.     

Cat-scratch disease-associated arthropathy

OBJECTIVE: To characterize the articular manifestations of cat-scratch disease (CSD) and to evaluate the long-term clinical outcome of those manifestations. METHODS: A community- and hospital-based surveillance study of CSD was conducted in Israel between 1991 and 2002. CSD was defined as present in a patient when a compatible clinical syndrome and a positive confirmatory finding of Bartonella henselae (by serology and/or polymerase chain reaction) were identified. CSD patients with arthropathy (arthritis/arthralgia) that limited or precluded usual activities of daily living constituted the study group. Patients were followed up until > or =6 weeks after resolution of symptoms, or if symptoms persisted, for >/=12 months. CSD patients without arthropathy served as controls. RESULTS: Among 841 CSD patients, 24 (2.9%) had rheumatoid factor-negative arthropathy that was often severe and disabling. Both univariate and multivariate analyses identified female sex (67% of arthropathy patients versus 40% of controls; relative risk [RR] 2.5, P = 0.047), age older than 20 years (100% of arthropathy patients versus 43% of controls; RR 4.9, P = 0.001), and erythema nodosum (21% of arthropathy patients versus 2% of controls; RR 7.9, P = 0.001) as variables significantly associated with arthropathy. Knee, wrist, ankle, and elbow joints were most frequently affected. Ten patients (42%) had severe arthropathy in the weight-bearing joints, which substantially limited their ability to walk, and 4 of these patients were hospitalized. All of the patients had regional lymphadenopathy, 37.5% had nocturnal joint pain, and 25% had morning stiffness. Nineteen patients (79.2%) recovered after a median duration of 6 weeks (range 1-24 weeks), whereas 5 patients (20.8%) developed chronic disease persisting 16-53 months (median 30 months) after the onset of arthropathy. CONCLUSION: This is the first comprehensive study of arthropathy in CSD. CSD-associated arthropathy is an uncommon syndrome affecting mostly young and middle-age women. It is often severe and disabling, and may take a chronic course.     

Pseudoneuropathic CPPD arthropathy: magnesium matters

SIR, Pseudoneuropathic calcium pyrophosphate deposition (CPPD)arthropathy is a rare form of arthropathy caused by depositionof calcium pyrophosphate crystals within the joint space. We wish to present a case of severe destructive pseudoneuropathicCPPD of the ankles due to hypomagnesaemia, treated successfullywith ankle arthrodesis. A 56-yr-old man with a 2-yr historyof bilateral ankle joint pain and swelling of sudden onset wasreferred to rheumatology services from orthopaedics becauseof the suspicion of an underlying inflammatory arthropathy.He had previously had a right total knee replacement     

New developments in ochronosis: review of the literature

Ochronosis commonly affects all connective tissue. Recognition of changes secondary to the deposition of ochronotic pigments has increased with advances in diagnostic technology, allowing both improved imaging and early biochemical and genetics-based diagnosis of alkaptonuria, the cause of ochronosis. Successful symptomatic treatment of ochronotic arthropathy with joint replacement has been documented, and a new pharmacotherapeutic agent, nitisinone, is currently under investigation for both prevention and treatment of ochronosis. This review of the literature highlights recently recognized complications, new diagnostic techniques, and treatment options.No grants or industrial support were received for this investigation     

Cubital tunnel syndrome in patients with haemophilia

Summary. Elbow is the second most common joint involved in patients with haemophilia; however, there is little data about the involvement of ulnar nerve at elbow in patients with haemophilic arthropathy. The purpose of this study was to address this problem in the elbow and evaluate the results of anterior subcutaneous transposition of the ulnar nerve in a small group of patients with haemophilia who had been managed in two institutions. Information on six patients who were diagnosed with tardy ulnar nerve palsy in two institutions was retrospectively collected. All patients suffered form severe haemophilia A. Anterior subcutaneous transposition of the ulnar nerve had been performed in all except one. The mean age of the patients at the time of procedure was 45.8 years and the mean duration of follow‐up was 60.2 months. No postoperative complication or recurrence was observed. No additional surgery was required in operated patients. Evaluation was performed using subjective and objective measures, and a modified Bishop score. After operation, subjective sensory and motor disturbances were improved or resolved in all of the operated patients, while objective measures improved less well. Ulnar nerve can be involved in cubital tunnel in patients with haemophilia. Anterior subcutaneous transposition of the ulnar nerve is an effective procedure for improving patients’ symptoms, with low risk of complications.     

Synovectomy for haemophilic arthropathy: 6–21 years of follow-up in 16 patients

Abstract. Objectives . To assess the efficacy of synovectomy in reducing recurrent haemarthroses and joint pain in patients suffering from haemophilic arthropathy. Moreover, to study whether synovectomy could improve joint mobility or postpone progression of joint destruction. Design . A retrospective study was conducted addressing joint-related symptoms and findings, and the need of orthopaedic surgery during follow-up. Setting . Oslo Sanitetsforenings Rheumatism Hospital/The National Hospital, the National Centre for Orthopaedic Surgery for approximately 180 Norwegians suffering from severe congenital coagulation deficiencies. Subjects . Twelve patients with haemophilia A, two patients with von Willebrand's disease and two patients with factor VII deficiency in which 21 synovectomies (nine knees. six ankles and six elbows) were performed. Main outcome measures . Joint pain, joint mobility, frequency of haemarthroses and radiographic joint scores at follow-up were compared to preoperative figures, and the number of joints in need of total joint replacement or arthrodesis was evaluated. Results . Synovectomy proved efficacious in reducing recurrent haemarthroses and joint pain in all patients. The total range of motion was not improved, but correction of extension deficiency of the knee was accomplished. The progression of arthropathy was not arrested by synovectomy as judged by the radiographic assessment; and in four patients arthroplasty of the knee, and in two patients arthrodesis of the ankle, had been performed. A major wound haemorrhage and subsequent wound rupture was seen in one patient who developed high-titred neutralizing antibodies to factor VIII. Conclusions . Synovectomy for haemophilic arthropathy is safe and efficacious in reducing recurrent haemarthroses and joint pain. Synovectomy should not be performed to improve joint mobility. The progression of the arthropathy is not arrested, and subsequently many patients will be candidates for arthroplasty or arthrodesis.