Abstract Number: PB1000
Meeting: ISTH 2020 Congress
Theme: Hemophilia and Rare Bleeding Disorders » Hemophilia - Clinical
Background: Reducing joint bleeding has been regarded as key to preventing development of hemophilic arthropathy. However, recent research has implied that such reductions do not completely protect against the onset of hemophilic arthropathy.
Aims: The aim was to confirm whether patients who had never experienced clinically evident joint bleeding (CEJB) did not develop hemophilic arthropathy, and also whether patients can develop hemophilic arthropathy without CEJB.
Methods: This study investigated 15 adult patients with hemophilia A who had never experienced CEJB to explore factors associated with hemophilic arthropathy without joint bleeding. Age, body mass index (BMI), factor VIII activity (FVIII:C) as measured by chromogenic substrate assay (CSA) and one-stage assay (OSA), and FVIII antigen (FVIII:Ag) were adopted as candidate factors. The causative mutation for hemophilia A was identified in all patients. Hemophilic arthropathy was estimated by Pettersson score (PS).
Results: While 10 patients showed a negative PS, the other five showed positive PS scores. These five patients all displayed higher FVIII:C by CSA than by OSA, and four kinds of mutations were identified in these five patients: p. Asp182Tyr, p. Thr314Ile, p. Arg1800His and p. Arg2169His. In terms of the mechanism of discrepancy between the two methods, p. Arg1800His was associated with enhanced binding affinity of FVIII for FX. However, the mechanisms underlying the other three mutations were not revealed.
Conclusions: Our study indicated that even hemophilia A patients who had never experienced CEJB risked developing hemophilic arthropathy. A distinct trend was seen for these patients to show higher FVIII:C by CSA than by OSA.
To cite this abstract in AMA style:
Suzuki N, Takahashi N, Suzuki A, Tamura S, Suzuki S, Hattori Y, Kakihara M, Ogawa M, Kanematsu T, Kojima T, Kojima T, Kiyoi H, Ishiguro N, Matsushita T. The Haemophilia A Patients whose FVIII: C by Chromogenic Substrate Assay were Higher than by One-Stage Substrate Assay Showed Risk of Development of Haemophiliac Arthropathy Silently [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/the-haemophilia-a-patients-whose-fviii-c-by-chromogenic-substrate-assay-were-higher-than-by-one-stage-substrate-assay-showed-risk-of-development-of-haemophiliac-arthropathy-silently/. Accessed September 29, 2023.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/the-haemophilia-a-patients-whose-fviii-c-by-chromogenic-substrate-assay-were-higher-than-by-one-stage-substrate-assay-showed-risk-of-development-of-haemophiliac-arthropathy-silently/