Joint Dysfunction as a Cause of Spontaneous Subclinical Bleeding in Infants with Hemophilia

J Clin Med. 2023 Oct 22;12(20):6672. doi: 10.3390/jcm12206672.

Abstract

Hemophilia is an inherited hemorrhagic disorder; its main clinical manifestations being bleeding in muscles and joints. Ankles, knees, and elbows are the most frequently affected joints, followed by shoulders and hips. The clinical signs of joint involvement are reduced mobility, swelling and walking difficulties. Bleeding episodes in patients with hemophilia are usually divided into traumatic and spontaneous, but we believe that the latter are not truly spontaneous but rather the result of joint stresses owing to motion actions that create dysfunctions starting from infancy. Pharmacological prophylaxis with factor replacement therapies or non-replacement drugs markedly reduces musculoskeletal hemorrhages. However, the onset of subclinical joint stress can be reduced only by associating this therapeutic approach with the accurate observation of the child motion patterns and restoring them if dysfunctional, thereby primarily preventing subclinical bleeding and ultimately the onset or progression of hemophilic arthropathy.

Keywords: gait; hemophilia; joint; synovitis.

Grants and funding

This research was supported by the Italian Ministry of Health—Bando Ricerca Corrente 2023 with a salary to V.B. The Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico is member of the European Reference Network (ERN) EuroBloodNet.