Pradeep M. Poonnoose

Functional Independence Score in Haemophilia: a new performance-based instrument to measure disability

Summary.  Morbidity in haemophilia has been described predominantly in terms of musculoskeletal dysfunction and assessed by the clinical and radiological joint scores. These scores document changes in a particular joint, but do not reflect the impact of these changes on the individual in terms of his overall musculoskeletal function. Several self‐assessment instruments have been used to measure musculoskeletal function but none have been specifically validated for use in haemophilia. In order to objectively assess musculoskeletal function of patients with haemophilia, we developed Functional Independence Score in Hemophilia (FISH), a performance‐based instrument. FISH measures the patients independence in performing seven activities under three categories: self‐care (grooming and eating, bathing and dressing), transfers (chair and floor) and mobility (walking and step climbing). Each function is graded from 1 to 4 depending on the amount of assistance needed in performing the function. We evaluated 35 patients who were over 10 years old and had had at least three major bleeds per year. All subjects were scored for clinical (World Federation of Hemophilia, WFH score) and radiological changes (Petterssons score). Functional independence of the patient was assessed using the Stanford Health Assessment Questionnaire (HAQ) and the FISH. Correlation of the FISH score was modest with both the WFH clinical score (r = −0.68) and the radiological score (r = −0.44). While there was good correlation between FISH and HAQ (r = −0.90), FISH had better internal consistency than HAQ (Cronbachs α 0.83 vs. 0.66). FISH appears to be a promising disease‐specific instrument for assessing overall musculoskeletal function in haemophilia. It requires evaluation in different patient populations.

Psychometric analysis of the Functional Independence Score in Haemophilia (FISH).

Summary.  Joint morbidity in haemophilia has traditionally been measured using clinical and radiological scores. There have been no reliable, validated tools for the assessment of functional independence in persons with haemophilia till recently. The Functional Independence Score in Haemophilia (FISH) has been developed as a performance based assessment tool to address this need. The FISH is designed to measure the patient’s independence in performing activities of daily living (grooming and eating, bathing and dressing), transfers (chair and floor), and mobility (walking, step climbing and running). On assessment of its psychometric properties in 63 patients with haemophilia (mean age 14 years), FISH was found to have good internal consistency (Cronbach’s alpha of 0.85). It had moderate correlation with the World Federation of Hemophilia clinical score (r = −0.61), and a correlation with the Pettersson score of −0.38. It had good correlation with other self‐rated functional scores, such as the Stanford Health Assessment Questionnaire (r = −0.75); the Western Ontario and McMaster Universities Osteoarthritis Index (r = −0.66) and the Haemophilia Activities List (HAL) (r = −0.66). It had good reliability with a pooled intra class correlation of 0.98. On assessing responsiveness following treatment of flexion deformities of the knee in 12 patients, the FISH showed significant changes in the score with a standardized responsiveness mean of −1.93. In conclusion, the FISH was found to be a reliable and valid tool with good internal consistency and responsiveness to therapy, for the assessment of functional independence in persons with haemophilia.

Recent developments in clinimetric instruments

Summary.  Assessment of impairment and function is essential in order to monitor joint status and evaluate therapeutic interventions in patients with haemophilia. The improvements in the treatment of haemophilia have required the development of more sensitive tools to detect the more minor dysfunctions that may now be apparent. This paper outlines some of the recent developments in this field. The Haemophilia Joint Health Score (HJHS) provides a systematic and robust measure of joint impairment. The MRI Scoring System has been designed to provide a comprehensive scoring system combining both progressive and additive scales. The Functional Independence Score for Haemophilia (FISH) has been developed to assess performance of functional activities and can be used in conjunction with the Haemophilia Activities List (HAL) which provides a self report measure of function. It is recommended that both measures are evaluated as these tools measure different constructs. Further refinement and testing of the psychometric properties of all of these tools is in progress. More widespread use of these tools will enable the sharing of data across the world so promoting best practice and ultimately enhancing patient care.

Proprioceptive changes in the contralateral knee joint following anterior cruciate injury

Loss of proprioception following an anterior cruciate ligament (ACL) injury has been well documented. We evaluated proprioception in both the injured and the uninjured limb in 25 patients with ACL injury and in 25 healthy controls, as assessed by joint position sense (JPS), the threshold for the detection of passive movement (TDPM) and postural sway during single-limb stance on a force plate. There were significant proprioceptive deficits in both ACL-deficient and uninjured knees compared with control knees, as assessed by the angle reproduction test (on JPS) and postural sway on single limb stance. The degree of loss of proprioception in the ACL-deficient knee and the unaffected contralateral knee joint in the same patient was similar. The TDPM in the injured knee was significantly higher than that of controls at 30° and 70° of flexion. The TDPM of the contralateral knee joint was not significantly different from that in controls. Based on these findings, the effect of proprioceptive training of the contralateral uninjured knee should be explored.

Choosing outcome assessment tools in haemophilia care and research: a multidisciplinary perspective

The implementation of early long‐term, regular clotting factor concentrate (CFC) replacement therapy (‘prophylaxis’) has made it possible to offer boys with haemophilia a near normal life. Many different regimens have reported favourable results, but the optimum treatment regimens have not been established and the cost of prophylaxis is very high. Both for optimizing treatment and reimbursement issues, there is a need to provide objective evidence of both short‐ and long‐term results and benefits of prophylactic regimens.

Polymorphism in factor VII gene modifies phenotype of severe haemophilia

Summary.  The basis for 10–15% of patients with severe haemophilia having clinically mild disease is not fully understood. We hypothesized that polymorphisms in various coagulant factors may affect frequency of bleeding while functionally significant polymorphisms in inflammatory and immunoregulatory genes may also contribute to variations in the extent of joint damage. These variables were studied in patients with severe haemophilia, who were categorized as ‘mild’ (<5 bleeds in the preceding year, <10 World Federation of Haemophilia clinical and <10 Pettersson scores, n = 14) or ‘severe’ (all others, n = 100). A total of 53 parameters were studied in each individual for their association with the clinical severity. Age, F8:c activity and the incidence of thrombotic markers were comparable between the groups while the median number of bleeds, number of affected joints, clinical, radiological and functional joint scores (P ≤ 0.001) and life‐time clotting factor use (P ≤ 0.007) were different. Patients with severe molecular defects had a 4.1‐fold increased risk for a severe phenotype (95% CI: 1.18–14.42, P = 0.026) compared with other mutations. Of the polymorphisms studied, the FVII353Q (RR = 3.5, 95% CI: 1.04–12.05, P = 0.044) allele was associated with a severe phenotype. This data shows that apart from the F8/F9 genotype, functional polymorphisms in FVII gene affect the phenotype of patients with severe haemophilia.

Outcome of Schatzker type V and VI tibial plateau fractures.

Background: Schatzker type V and VI tibial fractures are complex injuries, usually treated with open reduction and internal fixation (ORIF) using dual plates or ring fixators. ORIF has the advantage of not requiring pin tract care, but has a higher infection rate, especially in open fractures. We have combined the advantages of these two methods to treat these difficult fractures. Materials and Methods: Ten Schatzker type V and 11 Schatzker type VI fractures were treated between 2006 and 2010. ORIF with dual plates was performed, only if there was marked articular displacement (> 2 mm) in a closed fracture. All other fractures including open fractures and closed fractures with soft tissue compromise or minimal articular displacement were treated with ring fixators. The outcomes were analyzed and documented using the Honkonen and Jarvinen subjective, clinical, functional, and radiological criteria and the Western Ontario and McMaster Universities Arthritis Index (WOMAC). Results: Nine closed fractures with marked articular displacement (> 2 mm) were treated with dual plates. Eight closed fractures with minimal articular displacement (< 2 mm) and poor skin condition and four open fractures were treated with ring fixators. The mean follow-up period was 2 ½ years. The mean postoperative knee flexion was 128°. All patients could walk, jump, and climb steps. 90% could squat, though only 50% could duck walk properly. Radiologically, 85% had a plateau tilt of less than 5°, 92% had an articular step of less than 2 mm, and a residual articular widening of less than 5 mm. There were no major infections. Two patients had minor pin tract infections and two requested that their plates be removed subsequently. Conclusion: The protocol used to treat Schatzker type V and VI tibial plateau fractures has had excellent results and we suggest that all open fractures be treated with ring fixators and that ORIF should be done only for closed fractures with marked displacement.

Outcome assessment and limitations

The widely heard quote you can t manage what you don t measure , likely dates back to Lord Kelvin, who in his 1883 lecture delivered at the Institution of Civil Engineers, London said: ...when you cannot measure it, when you cannot express it in numbers, your knowledge is of a meagre and unsatisfactory kind...[1] In trying to solve the challenges of managing haemophilia – whether for the individual patient or in studies of patients in general – we are further ahead if we can accurately and precisely measure the outcomes we are interested in. Much of haemophilia care is related to preventing damaging arthropathy and its resulting impact on quality of life – so musculoskeletal outcomes are of prime importance in clinical care and in research. Some have proposed that we develop an accepted core set of measures that can define health in the context of haemophilia [2,3]. The World Health Organization (WHO) International Classification of Functioning and Health (ICF) is a framework that we will use to help structure our discussion of elements that may play a part in that core set (see figure) [4].

Traumatic Floating Clavicle: A Case Report and Literature Review

Bipolar fracture dislocations of the clavicle are rare injuries, usually the result of high-energy direct trauma. Since the original description by Porral in 1831, only a handful of individual case reports and case series by Beckman and Sanders have been reported in the literature. Management of these injuries has remained controversial ranging from nonoperative to aggressive surgery. We report on the case of a young army cadet who had a fracture of the lateral end of the clavicle, with an anterior dislocation of the sternoclavicular joint. Despite being planned for surgery, at the patients request, it was decided to manage the lesion conservatively with graded physiotherapy. At one-year follow-up, he had full pain-free, functional range of movement of the shoulder. This young high demand patient had a good outcome with conservative management, despite going against the current trend towards surgical treatment. We present this case with a review of the literature, highlighting the various management options for this rare lesion.

Distal femoral rotational alignment in the Indian population – An important consideration in total knee arthroplasty

OBJECTIVE To measure the angular relationships of distal femoral rotational axes in the normal Indian population. MATERIALS AND METHODS Magnetic Resonance Imaging (MRI) scans of the knee of 40 Indian subjects were used to define the posterior condylar axis, the transepicondylar axis and the Whitesides line (anteroposterior axis). The posterior condylar angle (PCA) - the angle between the posterior condylar axis and the transepicondylar axis, and the Whiteside-epicondylar angle (W-EP angle) were then calculated. RESULTS The mean posterior condylar angle in the Indian knee was 4.67° and the mean Whiteside-epicondylar angle was 92.7°. CONCLUSION There are differences in the distal femoral rotational axes among various races. The mean PCA and the W-EP angle are more externally rotated in the Indian than in the Western, population, but similar to the Chinese. Using fixed values to define the angular relationships between the axes could lead to malrotation of the femoral component. An understanding of the racial differences is essential while designing implants for the Indian population.