Abstract

Recurrent joint bleeds in hemophilia lead to (irreversible) joint damage, so-called hemophilic arthropathy causing major morbidity amongst hemophilia patients. Progression of arthropathy is monitored by clinical examination and imaging

Highlights

  • Recurrent joint bleeds in hemophilia lead to joint damage, so-called hemophilic arthropathy causing major morbidity amongst hemophilia patients

  • Many studies focused on the differences between patients with hemophilia and control groups

  • We summarize the results of an updated search and provide an overview of the challenges and pitfalls in biomarker research in order to increase the quality and efficacy of biomarker research in hemophilic arthropathy (HA)

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Summary

Introduction

Recurrent joint bleeds in hemophilia lead to (irreversible) joint damage, so-called hemophilic arthropathy causing major morbidity amongst hemophilia patients. Progression of arthropathy is monitored by clinical examination and imaging, but sensitive joint outcome measurements detecting early and subclinical joint damage are lacking. Hemophilia is a rare congenital bleeding disorder caused by a lack of or diminished activity of clotting factor VIII (hemophilia A) or IX (hemophilia B). This deficiency leads to an increase in spontaneous and traumatic bleeding especially in the large hinged joints. Many different clinical tools and imaging modalities are used for the assessment of joint health, each with its own advantages and limitations.

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