LAUSR

Hemophilia is an hereditary disease known for a long time; the first description dates back to the 2nd century AD, in Babylon (Talmud), characterized by a deficit in the activity of factors VIII, IX, and XI and represents a serious medical and social problem even despite the relatively low prevalence. The most frequent clinical manifestation of hemophilia is arthropathy, secondary to recurrent hemarthroses and chronic synovitis. All joints can be affected, but the knee, elbow, ankle, hip, and shoulder are the most commonly involved joints. Since hemophilia is an inherited bleeding disorder, bleeding can begin as early as in the neonatal period and can occur spontaneously or as a result of trauma. After several hemarthroses, hemophilic synovitis will develop, followed by damage to the cartilage, with functional impairment of the affected joint. Prophylaxis and the early diagnosis of hemarthrosis are essential to prevent the development of hemophilic synovitis. Clinical examination, X-rays, and MRI are used to assess the condition of the joints and monitor the progression of the disease in hemophilia. The clinic certainly plays an essential role in the follow-up of hemophilic arthropathy with periodic medical evaluations and episodic patient reports. Standard radiographs are only able to assess osteochondral changes, which occur late and are mostly irreversible. MRI provides relevant information in patients with hemophilia, even with absent or limited arthropathy. Both synovial hypertrophy and osteochondral changes, which are associated with the progression of arthropathy, such as joint effusion, and not related to progression, are well assessed with MRI. MRI therefore has importance in monitoring the joint status and can be used to guide treatment; however, it has various contraindications, relatively long execution times and significant costs. Ultrasound has been shown to detect and quantify disease activity (joint effusion and synovial hypertrophy) and degenerative damage (osteochondral changes). Ultrasound is widespread throughout the territory, is inexpensive, quick to perform and has the possibility of “point-of-care” use in patients suffering from hemophilia. Simplified scanning procedures and scoring methods were identified to evaluate the joints of patients with hemophilic arthropathy; scanning procedures have been established, particularly of the elbow, knee and ankle, with the aim of detecting early signs of joint involvement, disease progression and monitoring of the treatment. It is therefore appropriate to include ultrasound in the regular follow-up of patients with hemophilia, where equipment and staff allow it.