Challenges in biomarker research in haemophilic arthropathy

Bergen, Eline D P van; Mastbergen, S.C.; Lafeber, Floris P. J. G.; Schutgens, Roger E.G.; Vulpen, Lize F D van

doi:10.1111/hae.14290

Cited by 5 publications

(3 citation statements)

References 4 publications

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“…Yet, the most promising biomarkers from these pilot series are 1, COL-18 N, COMP, C1,2C, C2M, CS846, serum MIF, plasmatic sVCAM-1 and urinary CTX-II. 25 Here, TNFα levels were significantly increased in arthropathic patients, probably because of chronic synovitis, but it would not be wise to use this non-specific marker of inflammation to intensify prophylaxis since many other circumstances may trigger the expression of this cytokine. Early markers of cartilage damage would be better signatures of articular lesions.…”

Section: Discussionmentioning

confidence: 92%

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Stromal cell‐derived factor 1 alpha (SDF‐1alfa) and cartilage oligomeric matrix protein (COMP): Two potential signature biomarkers of radiological detectable hemophilic arthropathy

Leuci,

Robert,

Josset

et al. 2024

Int J of Rheum Dis

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IntroductionHemophilia is a rare constitutional bleeding disorder due to a deficiency in Factor VIII or Factor IX. Recurrent hemarthroses, one of the major complications of the disease, lead to hemophilic arthropathy, a disabling condition that requires early diagnosis. Traditionally, clinical examination and plain film radiography have been used to diagnose hemophilic arthropathy. Magnetic resonance imaging (MRI) and ultrasound can be more useful for diagnosing soft‐tissue changes. However, but each of these methods has limitations and diagnosis of arthropathy can be delayed.AimThe aim of this project was to assess plasmatic biomolecules indicative of osteo‐cartilaginous damage in patients with hemophilia with or without known arthropathy, in order to improve the diagnosis of this major complication of the disease.MethodsIn this monocentric retrospective study, 40 patients with hemophilia A or B, for whom a plasma sample was available, provided informed consent for further analyses (multiplex immunoassays and ELISA) and collection of relevant clinical information in their medical files. Correlations were sought for between biomarkers of interest and the severity of joint lesions assessed according to Pettersson's radiologic score.ResultsTwo biomarkers were identified, respectively SDF‐1α and COMP. Their plasmatic levels were significantly increased in patients with arthropathy compared to controls and patients without arthropathy. These values correlated significantly with the Pettersson score in patients under regular prophylaxis.ConclusionTwo plasma biomarkers have been identified that could help assess the presence and severity of hemophilic arthropathy.

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Section: Discussionmentioning

confidence: 92%

“…The heterogeneous design and populations of these studies impair comparing them or even pooling them in a meta‐analysis. Yet, the most promising biomarkers from these pilot series are Coll2‐1, COL‐18 N, COMP, C1,2C, C2M, CS846, serum MIF, plasmatic sVCAM‐1 and urinary CTX‐II 25 …”

Section: Discussionmentioning

confidence: 99%

Stromal cell‐derived factor 1 alpha (SDF‐1alfa) and cartilage oligomeric matrix protein (COMP): Two potential signature biomarkers of radiological detectable hemophilic arthropathy

Leuci,

Robert,

Josset

et al. 2024

Int J of Rheum Dis

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“…Laboratory assays are not yet integrated into the diagnostic toolkit for HA. There are studies on serum or urine biomarkers of joint damage in haemophiliacs [ 75 ], but the correlation between these biomarkers and joint prognosis is minimal, likely due to the diversity of the populations studied and study designs. Further prospective clinical studies are needed to elucidate the potential role of joint biomarkers in the early-stage diagnosis of HA complications.…”

Section: Diagnosis Of Haemophilic Arthropathymentioning

confidence: 99%

Blood-Induced Arthropathy: A Major Disabling Complication of Haemophilia

Leuci,

Dargaud

2023

JCM

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Haemophilic arthropathy (HA) is one of the most serious complications of haemophilia. It starts with joint bleeding, leading to synovitis which, in turn, can cause damage to the cartilage and subchondral bone, eventually inducing degenerative joint disease. Despite significant improvements in haemophilia treatment over the past two decades and recent guidelines from ISTH and WFH recommending FVIII trough levels of at least 3 IU/dL during prophylaxis, patients with haemophilia still develop joint disease. The pathophysiology of HA is complex, involving both inflammatory and degenerative components. Early diagnosis is key for proper management. Imaging can detect joint subclinical changes and influence prophylaxis. Magnetic resonance imagining (MRI) and ultrasound are the most frequently used methods in comprehensive haemophilia care centres. Biomarkers of joint health have been proposed to determine osteochondral joint deterioration, but none of these biomarkers has been validated or used in clinical practice. Early prophylaxis is key in all severe haemophilia patients to prevent arthropathy. Treatment is essentially based on prophylaxis intensification and chronic joint pain management. However, there remain significant gaps in the knowledge of the mechanisms responsible for HA and prognosis-influencing factors. Better understanding in this area could produce more effective interventions likely to ultimately prevent or attenuate the development of HA.

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Ferroptosis: a new target for iron overload-induced hemophilic arthropathy synovitis

et al. 2023

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Challenges in biomarker research in haemophilic arthropathy

Abstract: With great interest, we read the original article 'Detection and evaluation of haemophilic arthropathy: Which tools may be considered more reliable' by Plut et al. 1

Cited by 5 publications

References 4 publications

Stromal cell‐derived factor 1 alpha (SDF‐1alfa) and cartilage oligomeric matrix protein (COMP): Two potential signature biomarkers of radiological detectable hemophilic arthropathy

Stromal cell‐derived factor 1 alpha (SDF‐1alfa) and cartilage oligomeric matrix protein (COMP): Two potential signature biomarkers of radiological detectable hemophilic arthropathy

Blood-Induced Arthropathy: A Major Disabling Complication of Haemophilia

Ferroptosis: a new target for iron overload-induced hemophilic arthropathy synovitis

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