Late spinal dislocation after treatment of spinal arteriovenous malformation. A case of Charcot spinal arthropathy

Neuropathic arthropathy of the spine is a destructive condition of the spine which is secondary to a loss of the protective proprioceptive reflexes. In the majority of cases, it occurs in patients who have suffered from traumatic medullary lesions and is responsible for destruction of the vertebral bodies and considerable spinal deformity. We report a case of neurogenic lumbar arthropathy in a patient with a spinal arteriovenous malformation. This vascular lesion caused considerable disturbances of proprioception. The course was favorable with regard to the deformity after correction and fusion by posterior approach.     

Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study

We have studied a large Swedish family with a mutation in the nerve growth factor beta (NGFB) gene causing insensitivity to deep pain without anhidrosis (hereditary sensory and autonomic neuropathy, type V; HSAN V). Painfree joint destruction and fractures were common. Peripheral nerve conduction was normal, but temperature thresholds were increased. Sural nerve biopsies showed a moderate loss of A delta fibers and a severe reduction of C fibers. The three most severely affected cases were all born to consanguineous parents, and were homozygotes for the causal genetic mutation. Treatment of these patients is discussed.     

Power Doppler sonography in the diagnosis of hemophilic synovitis – a promising tool

Summary. Background: Recurrent hemarthroses in hemophilia results in synovitis and joint arthropathy. Primary prophylaxis when universally instituted at current doses can prevent joint deterioration but is expensive. Alternatively, the selective implementation of prophylaxis would require a more sensitive tool for detecting synovitis than possible with clinical surveillance or plain radiographs. Magnetic resonance imaging (MRI) is such a tool and is utilized for the evaluation of hemophilic joint disease (HJD). However, it is expensive, and requires sedation in younger children precluding its utility for monitoring of synovitis. Ultrasonography (USG) with power Doppler (USG‐PDS) has been utilized to detect and quantitate synovial vascularity in other arthritides and could provide an equally effective but less costly tool for HJD, particularly in children who would not require sedation. Objectives: To determine whether USG‐PDS is comparable to MRI in the evaluation of hemophilic synovitis. Patients: A prospective cohort of 31 subjects including 33 joints (knees, elbows, ankles) underwent dynamic contrast enhanced (DCE)‐MRI and USG‐PDS. Results: USG‐PDS measurements of synovial thickness(r = 0.70, P < 0.0001) and synovial vascularity (r = 0.73, P < 0.0001) correlated strongly with those obtained with DCE‐MRI. A cutoff of PDS intensity of 1.3 decibels (dB) per mm² was found to yield a sensitivity of 100% and a specificity of 94.1% in 17 joints with/without a history of hemarthroses. Pettersson radiographic scores correlated significantly with synovial thickness in adults but not children. Conclusions: Our data suggest that USG‐PDS may be an inexpensive and easily implemented imaging tool for detecting hemophilic synovitis and could be useful in tailoring effective prophylaxis.     

Posturographic analysis of balance control in patients with haemophilic arthropathy

Summary.  Musculoskeletal disorders in haemophiliacs represent the highest percentage of lesions, giving rise to haemophilic arthropathy (HA) which predominantly affects lower limbs, influencing postural control, standing and walking. Leading a sedentary lifestyle seems to influence strength and muscular resistance in haemophiliacs which, in turn, are related to articular stability and the prevention of articular degenerative processes. The objective of this work was to study alterations in balance to subsequently evaluate the appropriate therapeutics and how this influences the development of arthropathy. Twenty-five haemophiliacs with HA, 25 haemophiliacs without HA (NHA) and 25 healthy control subjects (CTL) took part in this study. Tests were performed on a force platform and the subjects remained as still as possible for 30 s under different conditions: (i) bilateral stance with eyes open; (ii) bilateral stance with eyes closed; (iii) right unilateral stance; and (iv) left unilateral stance. The results of these tests indicated significant differences ( P  < 0.05) between the groups HA, NHA and CTL. The HA group presented worse results for both unilateral and bilateral stance when compared with the other two cohorts. Surprisingly, the NHA group displayed a worse balance than the controls. A single calculated parameter (mean frequency) did not show significant differences. This apparently indicates the absence of pathology in the nervous system in relation to postural control. The results suggest that our patients should participate in physical exercise programmes, rehabilitation and physiotherapy to improve their postural control.     

The outcome of cementless total hip arthroplasty in haemophilic hip arthropathy

Summary.  Total hip arthroplasty (THA) in haemophilic arthropathy is reported to be less successful than in non-haemophilic indications. Although preliminary results are encouraging, the survival and functional outcome of cementless THA in haemophilia are not known. The aim of this study was to analyse mid-term results of cementless THA in haemophilia. Twenty-seven consecutive cementless THAs with 23 patients performed between June 1995 and June 2003 were reviewed. Mean age at time of operation was 36 years and mean follow-up period was 92 months (range, 60–156). Radiographic assessment was done for fixation of components, loosening, osteolysis, wear and bone responses around the implants. The factor requirements, amount of transfusion and complications associated with bleeding were studied. The mean preoperative Harris hip score changed from 57 to 95.9 at the latest follow-up. The survival at mean follow-up was 95.2%. One patient with osteolysis around acetabular cup was re-operated with bone-grafting and change of polyethylene liner. One loose cup was revised with a cemented cup. All other components were deemed stable at the latest follow-up. A standardized management protocol and dedicated team approach comprising of haematologist, physicians, physical therapist, nurses and coordinators is needed for excellent results. The present retrospective study shows that the functional results of cementless THA in haemophilia are satisfactory as it happens in osteoarthritic patients according to the current literature, mainly the younger. Thus, taking into account that the majority of haemophilia patients requiring a THA are relatively young, cementless THA is currently recommended.     

Comparison of radiography, CT and MR imaging in detection of arthropathies in patients with haemophilia

Summary. To compare magnetic resonance (MR) imaging, computed tomography (CT) and radiography for the detection of arthropathies in patients with haemophilia. Forty‐one symptomatic joints in 14 men with haemophilia, ages 11–24 years (mean age 17.5 ± 3.9 years) were examined with radiography, CT and MR. Images of each joint were acquired on the same day. The precontrast MR examination obtained coronal spin‐echo T1 images and gradient echo with rephasing T2* images, as well as sagittal, axial gradient echo with rephasing T2* images using a low‐field‐strength 0.3‐T MR imager. For the postcontrast MR examination, coronal, sagittal and axial images were acquired using the same precontrast T1 sequence. Thirteen joints were also examined on enhanced MR. The severity of damage was classified using conventional radiographical staging. Severely affected haemophilic arthropathy (HA) patients (stage 5) were excluded. Findings of soft tissue swelling, osteoporosis, epiphyseal overgrowth, joint erosion, cysts, joint space narrowing, bone marrow oedema, joint effusion, haemorrhage, synovial hypertrophy and widened intercondylar notches as well as anterior and posterior cruciate ligaments (for the knee) were used in all imaging comparisons. The joints were classified by radiographical criteria into stage 0 (n = 5), stage 1 (n = 7), stage 2 (n = 6), stage 3 (n = 8) and stage 4 (n = 15). Soft tissue swelling or joint effusion was observed in 33 joints on radiographs, in 34 on both CT and MR; joint erosions were observed in 34 joints on MR, 33 on CT and 20 on radiographs. Joint cysts appeared in 21 joints on MR, 18 on CT and 9 on radiographs. Significant differences in detection of erosion and cysts were found between radiography and CT (P < 0.05) and radiography and MR imaging (P < 0.05), not between CT and MR (P > 0.05). MR was better for detecting foci of both erosion and cysts than CT and radiography, and CT was better than radiography. MR imaging, CT and radiography were equally effective in showing the changes of epiphyseal overgrowth in 26 joints, joint space narrowing in 14 joints and widened intercondylar notches in 20 knee joints. However, only MR imaging detected tears in 17 anterior and 13 posterior cruciate ligaments in the 20 knee joints with widened intercondylar notches. Bone marrow oedema in 14 joints, haemorrhage in 34 joints and synovial hypertrophy in 27 joints were seen on MR images, but not on CT or radiography. MR imaging is superior to CT and conventional radiography for detecting abnormal changes and should be considered the first choice among imaging modalities in evaluating HAs.     

Validation of a composite score for clinical severity of hemophilia

Summary.  Introduction:  Evaluation of modulators of the phenotypic expression of hemophilia may benefit from a scoring system that reflects several aspects of the clinical severity instead of only one dimension. Methods:  We describe here how we constructed a composite Hemophilia Severity Score (HSS) and performed validation. The items in the HSS are annual incidence of joint bleeds, World Federation of Hemophilia Orthopedic joint score, and annual factor consumption. The latter two were adjusted for age at start of prophylaxis and body weight. Data for 100 adolescent or adult patients with hemophilia A or B in the mild, moderate or severe form without inhibitors were collected for the 1990–1999 period. We evaluated the reliability (multidimension property, test–retest) and validity (content, convergent, discriminant and known groups) of the score. Results:  The HSS ranged from 0 to 0.94 and was higher in severe hemophilia A than severe hemophilia B (median 0.50 and 0.24; P  = 0.031). The validation indicated that the HSS is reliable and reflective of the clinical severity of hemophilia. The presence of factor V G1691A or prothrombin G20210A polymorphisms was found in 13 patients. The clinical severity, measured as the HSS or each of the three components, appeared to be modified by prothrombin G20210A but not by FV G1691A. Conclusion:  The HSS is a well-defined tool that provides a comprehensive representation of the clinical severity of hemophilia in adults. It would be useful in larger studies on the assessment of modulators of the phenotypic expression of hemophilia.     

The impact of haemophilia on the success of total hip arthroplasty

Summary.  We present the results of 34 total hip arthroplasties performed, on haemophiliac patients, between 1983 and 2005. The haematological diagnoses and management are discussed, emphasizing their impact on keeping complication levels to a minimum. The orthopaedic diagnoses and treatment methods are also highlighted, discussing the survivorship and reasons for their failures.     

带血管蒂双叶筋膜瓣移位膝关节治疗血友病性膝关节病(附1例报告)

目的介绍一种带血管蒂双叶筋膜瓣移位于膝关节治疗血友病性关节病的新方法。方法用膝最上动脉的关节支和隐支为蒂的双蒂筋膜瓣包绕清理后的股胫和髌股关节。结果术后随访1.5～2.5年,双膝关节疼痛消失,膝关节活动度右术前10°,术后110°,左术前20°,术后120°。按美国膝关节学会人工关节置换术后疗效评定标准,运动、功能综合评定优良率达92%。结论带血管蒂双叶筋膜瓣移位于膝关节内,具有关节稳定性好,手术简单,创伤小,并发症少,效果好等优点。