Inherited coagulation disorders in Turkish children: A retrospective, single-center cohort study

Öner, Nergiz; Gürsel, Türkiz; Kaya, Zühre; Keskin, Ebru Yılmaz; Koçak, Ülker; Albayrak, Meryem; Yenicesu, İdil; Apak, Burcu Belen; Işık, Melek

doi:10.1016/j.transci.2020.102728

“…14 Other reports also indicated an overall inhibitor prevalence of around 14% and a prevalence of 16.7% in patients with severe disease. 15 , 16 Based on our clinical observation, inhibitor incidence in severe HA ranges between 15% and 20%, with almost 10% of PUPs developing inhibitors with plasma‐derived FVIIIs and 20%–25% with recombinants factors. Findings from the Survey of Inhibitors in Plasma‐Product Exposed Toddlers (SIPPET) trial, demonstrating that rFVIII products were associated with a higher risk of inhibitor development than plasma‐derived products in PUPs with HA, 11 together with those from the national Turkish registry, have led to updating of the Turkish haemophilia guidelines 17 to recommend the use of plasma‐derived products instead of recombinant ones.…”

Section: Where Do We Stand?mentioning

confidence: 99%

“…14 Other reports also indicated an overall inhibitor prevalence of around 14% and a prevalence of 16.7% in patients with severe disease. 15,16 Based on our clinical observation, inhibitor incidence in severe HA ranges between 15% and 20%, with almost 10% of PUPs developing inhibitors with plasma-derived FVIIIs and 20%-25% with recombinants factors.…”

Section: Incidence and Prevalence Of Inhibitor Developmentmentioning

confidence: 99%

Management of haemophilia A with inhibitors: A regional cross‐talk

Peyvandi

¹

,

Kavaklı

²

,

El‐Beshlawy

³

et al. 2022

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Introduction The development of inhibitors with factor VIII (FVIII) replacement therapy is one of the most common and challenging complications of haemophilia A (HA) treatment, jeopardising treatment efficacy and predisposing patients to high risks of morbidity and mortality. The management of patients with inhibitors is particularly challenging in countries where resources are limited. Aim To provide a comprehensive summary of the management of HA with inhibitors while focusing on differences in practice between Western and non‐Western countries and how resource scarcity can impact HA management, leading to suboptimal outcomes in patients with inhibitors. Methods Summary of key evidence and regional expert opinion. Results We address, particularly, the diagnosis of and testing for inhibitors, as well as the epidemiology of inhibitors, including incidence, prevalence and disease burden. Secondly, we provide an overview of the current treatment landscape in HA with inhibitors regarding the eradication of inhibitors with immune tolerance induction and the treatment and prevention of bleeding with bypassing agents, non‐factor replacement agents and other experimental therapies. This is complemented with insights from the authors around the applicability of, and challenges associated with, such therapies in their settings of practice. Conclusions We conclude by proposing some key steps towards bridging the gaps in the management of HA with inhibitors in resource‐limited countries, including: (1) the collection of quality data that can inform healthcare reforms and policies; (2) improving disease knowledge among healthcare practitioners and patients with the aim of standardising disease management across centres and (3) working towards promoting equal access to HA care and therapies for everyone.

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“…Median age at diagnosis: General population: 28 years 34 Pediatric population: 0.8–3 years 38 , 44 , 57 , 58 …”

Section: Resultsmentioning

confidence: 99%

Von Willebrand Disease Epidemiology, Burden of Illness and Management: A Systematic Review

Du¹,

Bergamasco²,

Moride³

et al. 2023

JBM

12

0

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Introduction Although hereditary von Willebrand disease (VWD) is the most common bleeding disorder, its epidemiology is not well understood. A systematic review (PROSPERO CRD42020197674/CRD42021244374) on the epidemiology/burden of illness of VWD was conducted to better understand patients’ unmet needs. Methods Observational studies (published January 1, 2010 to April 14, 2021) were identified in MEDLINE and Embase databases, using free-text keywords and thesaurus terms for VWD and outcomes of interest. Pragmatic web-based searches of the gray literature, including conference abstracts, were performed, and reference lists of retained publications were manually searched for additional sources. Case reports and clinical trials (phase 1–3) were excluded. Outcomes of interest were incidence, prevalence, mortality, patient characteristics, burden of illness, and therapeutic management/treatments currently used for VWD. Results Of the 3095 identified sources, 168 were included in this systematic review. Reported VWD prevalence (22 sources) ranged from 108.9 to 2200 per 100,000 in population-based studies and from 0.3 to 16.5 per 100,000 in referral-based studies. Reported times between first symptom onset and diagnosis (two sources; mean 669 days; median 3 years) highlighted gaps in timely VWD diagnosis. Bleeding events reported in 72–94% of the patients with VWD (all types; 27 sources) were mostly mucocutaneous including epistaxis, menorrhagia, and oral/gum bleeding. Poorer health-related quality of life (three sources) and greater health care resource utilization (three sources) were reported for patients with VWD than in general populations. Conclusion Available data suggest that patients with VWD experience high disease burden in terms of bleeding, poor quality of life, and health care resource utilization.

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“…Because the prevalence of joint disease is the main factor that leads to joint deformity in hemophiliacs, many methods have been developed to determine the severity of HA. Clinical joint scores are usually used only for severe HA joints, but relatively light joint degeneration is not easily detected and is often seen in young patients [ 4 ]. 10%∼20% of children with severe hemophilia still have joint deformity, progressive arthritis, and multi-target joint involvement, which lead to reduced range of motion and joint mobility difficulties [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Artificial Intelligence Algorithm‐Based Magnetic Resonance Imaging to Evaluate the Effect of Radiation Synovectomy for Hemophilic Arthropathy

Zhang

¹

,

Duan

²

,

Xiao

³

et al. 2022

Contrast Media & Molecular Imaging

1

0

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This study aimed to discuss magnetic resonance imaging (MRI) based on artificial intelligence (AI) algorithm to evaluate the effect of radiation synovectomy for hemophilic arthropathy (HA). MRI based on the Canny algorithm was applied and compared with conventional MRI to evaluate its application effects according to the PSNR and SSIM. Sixty patients diagnosed with HA were selected as the research subjects. According to the detection method, the patients were divided into group A (pathological detection after radiation synovectomy), group B (conventional MRI detection), and group C (MRI detection based on the Canny algorithm). The application value of MRI based on the Canny algorithm was judged by comparing the differences between the two detection methods and pathological results. The results displayed that the reconstruction effect of the Canny algorithm was remarkably better than that of the traditional algorithm regarding the peak signal-to-noise ratio (PSNR) and structural similarity (SSIM), which showed a clearer synovial contour. The results of the IPSG score of joint effusion and hemorrhage showed that there was a difference in the detection rate of joints between conventional MRI and pathological results on the score of 1 and 2 ( P < 0.05 ); and there was no significant difference between the MRI and pathological results based on the Canny algorithm ( P > 0.05 ). The results of the IPSG score of synovial hyperplasia showed that the detection rate of conventional MRI was different from pathological results on the score of 1 and 2 ( P < 0.05 ); and there was no significant difference between the MRI and pathological results based on the Canny algorithm ( P > 0.05 ). The results of the IPSG score of hemosiderin deposition showed that the detection rate of conventional MRI was different from the pathological results on the score of 1 and 2 ( P < 0.05 ); and there was no significant difference between the MRI and pathological results based on the Canny algorithm ( P > 0.05 ). The synovial volume of patients after surgery was reduced compared with that before surgery. One-factor variance was used to analyze the clinical hemorrhage frequency before and after surgery, and the results showed that the differences were statistically significant ( P < 0.05 ). Therefore, MRI on account of AI algorithm made it easier to detect synovial contour, which was helpful to evaluate the efficacy of polygenic risk scores (PRS) surgery in HA patients. MRI based on the Canny algorithm had less differences between the score of hemophilic arthropathy and pathological results, which could replace conventional MRI examination and have clinical application value.

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Inherited coagulation disorders in Turkish children: A retrospective, single-center cohort study

Cited by 9 publications

References 30 publications

Management of haemophilia A with inhibitors: A regional cross‐talk

Management of haemophilia A with inhibitors: A regional cross‐talk

Von Willebrand Disease Epidemiology, Burden of Illness and Management: A Systematic Review

Artificial Intelligence Algorithm‐Based Magnetic Resonance Imaging to Evaluate the Effect of Radiation Synovectomy for Hemophilic Arthropathy

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