Hemophilic Arthropathy: Barriers to Early Diagnosis and Management

Abstract

Hemophilia is a congenital coagulopathy characterized by a deficiency of one of the clotting factors. It is characterized by the development of hematomas and hemarthrosis, either spontaneously or after minor trauma. The recurrence of hemarthroses leads to progressive and degenerative joint damage from childhood (hemophilic arthropathy). This arthropathy is characterized by disabling physical effects that limit the functionality and quality of life of these patients. Medical progress achieved over the last decade in the drug treatment of hemophilia has improved the medium and long-term prospects of patients with more effective and long-lasting drugs. The universal use of safer, more effective and prolonged prophylactic treatments may promote the prevention of bleeding, and also therefore, of the development of hemarthrosis and joint damage. A number of imaging instruments have been developed for the assessment of hemarthrosis and hemophilic arthropathy, using ultrasound, magnetic resonance imaging and simple radiology. Different physical examination scores and questionnaires allow the assessment of joint health, self-perceived activity and functionality of patients with hemophilia. The approach to these patients should be interdisciplinary. Assessment of the processes that affect pain in these patients and the development of pain education models should be implemented. Expert advice and information to patients with hemophilia should be based on individual functional prevention diagnoses, advice on available therapies and sports practice, as well as health recommendations.

Keywords:

• hemophilia
• joint disease
• pain
• diagnosis
• management

Data Sharing Statement

All data are available within the manuscript and may further be available upon reasonable request to the corresponding author.

Consent for Publication

All Authors approved the present submission.

Author Contributions

All authors made substantial contributions to the conception and design, acquisition of data, or analysis and interpretation of data; took part in the drafting of the article or revising it critically for important intellectual content; agreed to submit the paper to this journal; gave final approval of the version to be published; and agree to be accountable for all aspects of the work.

Disclosure

Dr. Rubén Cuesta-Barriuso received consultancy honoraria and speaker bureau from Takeda, Sobi and Roche; Dr. Elena Donoso-Úbeda declares no conflicts of interest to disclose; Dr. Javier Meroño-Gallut declares no conflicts of interest to disclose; Mr. Roberto Ucero-Lozano declares no conflicts of interest to disclose; Dr. Raúl Pérez-Llanes declares no conflicts of interest to disclose.

Additional information

Funding

This research received no external funding.