REHABILITASI MEDIK PADA HEMOFILIA

Abstract

ABSTRACT: Hemophilia, which literally means “love of blood” (from the words “filia” meaning love and “hemo” meaning blood), is the most common and serious hereditary blood coagulation disorder. Both hemophilia A and B are caused by a deficiency or dysfunction of coagulation factor VIII and factor IX proteins, characterized by prolonged and excessive bleeding after minor trauma or even spontaneously. The prevalence of hemophilia A is estimated at 24.6 per 100,000 live births, while the prevalence of hemophilia B is 5.0 per 100,000 live births. Genetic abnormalities in severe hemophilia (factor levels <1%) are usually caused by deletions or large inversions, or by point mutations that disrupt gene expression. Joint disorders in patients with hemophilia include various complications such as recurrent hemarthrosis, chronic hypertrophy of the synovial membrane, flexion deformity, epiphyseal enlargement, articular cartilage damage, and joint degeneration. The definitive diagnosis of hemophilia is based on factor testing to demonstrate FVIII or FIX deficiency. Initial laboratory investigations include but are not limited to complete blood count, platelet count, prothrombin time (PT), partial thromboplastin time (PTT), von Willebrand factor antigen. Prophylactic therapy is the gold standard in hemophilia therapy, with the use of Factor VIII (FVIII) and Factor IX (FIX) which have longer half-lives, subcutaneous substitutes such as emicizumab are also used to improve the effectiveness of hemostasis and Clotting Factor Concentrates (CFCs) remain the primary choice in managing and preventing bleeding. Physical therapy interventions are divided into several categories: manual therapy, physical agents, therapeutic exercise, training using devices such as treadmills or bicycle ergometers, sensorimotor interventions, and other modalities such as whole body vibration, kinesiotaping, and acupuncture. Exercise programs for pediatric patients with hemophilic arthropathy include resistance training, partial weight-bearing exercises, nerve flossing techniques, laser therapy, treadmill training, isokinetic exercises, sensorimotor exercises, kinesiotaping, and whole-body vibration With the implementation of a comprehensive and individualized rehabilitation program, hemophilia patients can achieve better functional outcomes and reduce the risk of disability.