Hemophilia Management and Follow-up: Role of Radiological and Functional Assessment of the Disease Severity.

Abstract

Hemophilia A is a bleeding disorder caused by the deficiency of clotting factor VIII; inherited as an X-linked recessive pattern. The partial or total absence of the factor VIII leads to repeated deep muscular or intra-articular spontaneous bleedings or bleedings after trivial trauma. The severity of the disease is graded based on the circulating factor VIII levels. Life threatening complications like intracranial and gastrointestinal bleed are rare (< 5%), whereas hemarthrosis is the commonest (70–80 %) [1]. The multitude of problems a pediatrician faces treating a Hemophilia A child stems out from the repeated bleedings and their sequelae in the form of blood loss, joint deformities and arthropathy, and transfusion related complications [1]. A comprehensive care of hemophilia requires replacement of clotting factors, the prevention of bleeds, management of bleeding and its complications; of which musculoskeletal complications are the commonest; and care of psychological health. Hemarthrosis leads to articular cartilage destruction, subchondral bone erosion, joint space loss and deformities. Radiological assessment of the joint involvement has traditionally been using the ArnoldHilgartner scale [2] and Petterson score [3]; the latter being accepted by the orthopedic advisory committee of the World Federation of Hemophilia. The Petterson score gives a score ranging from 0 to 13 to each involved joint, based on 8 radiologic criteria on frontal and lateral radiographs [3]. Since both the scoring systems detected fairly advanced joint changes, MRI based scoring system had subsequently been developed. The Denver scale gives a score of 0 to 10 based on joint effusion/hemarthrosis, synovial hyperplasia, cyst/erosion and cartilage loss [4]. Subsequently Lundin et al. developed another semiquantitative way of describing hemophilic arthropathy on MRI [5]. The main drawback in the MRI based scoring systems lies in their limited availability, and practically the practicing physician has to depend on the X-ray based scoring systems. Although the radiological scoring systems grade the bony changes, the muscle function and hence the disability, to a large extent, is overlooked by these scores. Functional assessment encompasses the ability of the patient to complete the daily activities and hence a measure of the independence; also indirectly that of the psychological well-being. FISH (Functional independence score in Hemophilia), developed by Poonnoose et al. [6–8] is one such comprehensive scoring system which assesses the patient’s ability in performing eight activities under three categories: self care (grooming and eating, bathing, dressing), transfers and mobility [6]. Each activity is given a score of 1 to 4 and a total score of 8–32 is offered for each joint. Ever since the introduction of FISH score in 2005, there has been very limited number of studies from India evaluating this score; moreover there is only one article so far in English literature providing a comparison of the FISH score and the radiological score [9]. The article published in the current issue of Indian Journal of Pediatrics by Gupta et al. describes a cross-sectional study on the assessment of functional independence of children of Hemophilia A and correlated it with the radiological joint score [10]. They recruited 98 children of Hemophilia A (mild, moderate and severe), in the age group of 4–18 y; evaluated the musculoskeletal function using FISH score, and evaluated a total of 124 index joints (knees, ankles * Arun Kumar Gupta arunk676@gmail.com