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Diagnosis and Management of Hemophilia: Old and New Challenges
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Diagnosis and Management of Hemophilia: Old and New Challenges

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: closed (31 July 2020) | Viewed by 9983

Special Issue Editor

Dr. Maria Elisa Mancuso

E-Mail Website
Guest Editor
Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, “Angelo Bianchi Bonomi” Hemophilia and Thrombosis Centre, Milan, Italy
Interests: congenital bleeding disorders; hemophilia A; hemophilia B; inhibitors; prophylaxis; hemophilic arthropathy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In the field of congenital bleeding disorders, hemophilia A and B represent the forms with the major clinical impact. In the recent past, a tremendous advance in the treatment landscape, along with the optimization of diagnostic and monitoring tools, has allowed changing the natural history of the disease with consequent improvement in survival and disease-related morbidity. Prophylaxis is the cornerstone of treatment aiming at zero bleeds and healthy joints, and thanks to EHL FVIII/FIX products and nonreplacement therapies, this is feasible in all patients irrespective of the presence of inhibitory antibodies. Moreover, gene therapy is rapidly developing. Despite all these exciting progresses, treating physicians still face old and new challenges for the diagnosis and the management of hemophilia and its complications. Preimplant/prenatal diagnosis and genetic counseling are not available worldwide as an adequate supply of concentrates to allow for the widespread use of prophylaxis. The early detection of joint damage remains challenging and the possibility to prevent it through new nonreplacement therapies still unknown. Management of inhibitor patients requires high-level expertise, and the need for inhibitor eradication is a matter of debate in the new treatment era. Finally, the advent of many different new molecules represents a challenge for the laboratory where the most reliable monitoring assays should be identified.

Dr. Maria Elisa Mancuso
Guest Editor

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Keywords

  • Prenatal diagnosis
  • Prophylaxis
  • EHL clotting factor concentrates
  • Nonreplacement therapies
  • Inhibitors
  • Immune tolerance induction
  • Hemophilic arthropathy
  • Laboratory assays
  • Outcome measures

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Published Papers (3 papers)

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Research

11 pages, 231 KiB  
Article
The German Hemophilia Registry: Growing with Its Tasks
by Heike Duda, Janina Hesse, Birgit Haschberger, Anneliese Hilger and Christine Keipert
J. Clin. Med. 2020, 9(11), 3408; https://doi.org/10.3390/jcm9113408 - 24 Oct 2020
Cited by 7 | Viewed by 3498
Abstract
Hemophilia is a rare heredity bleeding disorder that requires treatment for life. While few therapeutic options were available in the past, multiple recent breakthroughs have fundamentally altered and diversified hemophilia therapy, with even more new therapeutic options forthcoming. These changes are mirrored by [...] Read more.
Hemophilia is a rare heredity bleeding disorder that requires treatment for life. While few therapeutic options were available in the past, multiple recent breakthroughs have fundamentally altered and diversified hemophilia therapy, with even more new therapeutic options forthcoming. These changes are mirrored by significant regulatory and legal changes, which have redefined the role of hemophilia registries in the European Union (EU). This dual paradigm shift poses new regulatory, scientific but also structural requirements for hemophilia registries. The aim of this manuscript is to enumerate these significant challenges and to demonstrate their incorporation into the redesign of the German Hemophilia Registry (Deutsches Hämophilieregister, dhr). To identify the spectrum of hemophilia therapies and the degree of regulatory changes, a horizon screening was performed. Consequently, a core dataset for the dhr was defined by harmonization with regulatory guidelines as well as other hemophilia registries and by heeding the needs of different stakeholders (patients, clinicians, regulators, and scientists). Based on this information, a new registry structure was established, which is optimized for capturing data on new and established hemophilia therapies in a changing therapeutic and regulatory landscape Full article
(This article belongs to the Special Issue Diagnosis and Management of Hemophilia: Old and New Challenges)
13 pages, 2194 KiB  
Article
Mid-to Long-Term Survival of Total Knee Arthroplasty in Hemophilic Arthropathy
by Jung-Kwon Bae, Kang-Il Kim, Sang-Hak Lee and Myung-Chul Yoo
J. Clin. Med. 2020, 9(10), 3247; https://doi.org/10.3390/jcm9103247 - 11 Oct 2020
Cited by 17 | Viewed by 3606
Abstract
While satisfactory results have been reported during short-to mid-term follow-up assessments of hemophilic patients who have undergone total knee arthroplasty (TKA), limited literature focusing on long-term survival following TKA exists to date. As part of this investigation, a consecutive series of 78 TKAs [...] Read more.
While satisfactory results have been reported during short-to mid-term follow-up assessments of hemophilic patients who have undergone total knee arthroplasty (TKA), limited literature focusing on long-term survival following TKA exists to date. As part of this investigation, a consecutive series of 78 TKAs in 56 patients with hemophilic arthropathy was reviewed. The mean patient age at the time of operation was 38.7 years old and the mean length of follow up was 10.2 years. Clinical and radiologic outcomes, quality of life, complications, and long-term survivorship of TKA were evaluated. At the latest point of follow up, the average American Knee Society (AKS) knee and function scores had improved from 32.1 to 85.7 points and 41.5 to 83.3 points, respectively. Moreover, the average range of motion (ROM) was significantly increased from 64.2° preoperatively to 84.2° postoperatively. The physical and mental Short Form-36 results were also significantly improved at the latest point of follow up. Postoperative complications appeared in 12 knees (15.4%). The readmission rate in the 30 days after discharge was 6.4%. Revision TKA was performed in three knees for periprosthetic joint infection (n = 2 knees) and tibial component loosening (n = 1 knee). The Kaplan–Meier 10- and 13-year prosthesis survival rates were 97.1% and 93.2%, respectively. The current study suggests that the mid-to long-term results of TKA in patients with hemophilic arthropathy are favorable, with successful long-term prosthesis survival achievable in most cases. Full article
(This article belongs to the Special Issue Diagnosis and Management of Hemophilia: Old and New Challenges)
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13 pages, 2008 KiB  
Article
EMG, Rate of Perceived Exertion, Pain, Tolerability and Possible Adverse Effects of a Knee Extensor Exercise with Progressive Elastic Resistance in Patients with Severe Haemophilia
by Joaquín Calatayud, Jonás Navarro-Navarro, Juan J. Carrasco, Sofía Pérez-Alenda, Carlos Cruz-Montecinos, Lars L. Andersen, Felipe Querol-Giner and José Casaña
J. Clin. Med. 2020, 9(9), 2801; https://doi.org/10.3390/jcm9092801 - 30 Aug 2020
Cited by 3 | Viewed by 2384
Abstract
In people with haemophilia (PWH), elastic band training is considered an optimal option, even though the literature is scarce. The aim was to evaluate normalized electromyographic amplitude (nEMG), rate of perceived exertion (RPE), pain, tolerability, and possible adverse effects during the knee extension [...] Read more.
In people with haemophilia (PWH), elastic band training is considered an optimal option, even though the literature is scarce. The aim was to evaluate normalized electromyographic amplitude (nEMG), rate of perceived exertion (RPE), pain, tolerability, and possible adverse effects during the knee extension exercise using multiple elastic resistance intensities in PWH. During a single session, 14 severe PWH undergoing prophylactic treatment performed knee extensions without resistance and with different intensity levels of elastic resistance. nEMG was measured for the knee extensors and participants rated their RPE, tolerability and pain intensity after each condition. Patients had to report the possible adverse effects after the session. In most of the cases, an nEMG increase is only evidenced after increasing the resistance by two to three levels. Significant associations were found between RPE and the nEMG (ρ = 0.61), as well as between the elastic resistance level and nEMG (ρ = 0.69) and RPE (ρ = 0.71). All conditions were generally tolerated, without increased pain, and no adverse effects were reported. A wide variety of elastic resistance intensities during the knee extension are safe, tolerated, and do not increase knee pain in the majority of severe PWH undergoing prophylactic treatment. Full article
(This article belongs to the Special Issue Diagnosis and Management of Hemophilia: Old and New Challenges)
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