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Challenges in the Management of Hemophilia
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Challenges in the Management of Hemophilia

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

Deadline for manuscript submissions: 20 November 2024 | Viewed by 4027

Special Issue Editor

Dr. Maria Elisa Mancuso

E-Mail Website
Guest Editor
IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy
Interests: hemophilia; bleeding disorder
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is the second edition of “Diagnosis and Management of Hemophilia: Old and New Challenges” (https://www.mdpi.com/journal/jcm/special_issues/Hemophilia).

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 this exciting progress, 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

Manuscript Submission Information

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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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Related Special Issue

Published Papers (4 papers)

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Research

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22 pages, 4110 KiB  
Article
Physical Activity, Bleedings and Quality of Life in Subjects with Haemophilia A without Inhibitors—A Multicenter, Observational Italian Study with a Wearable Device
by Maria Elisa Mancuso, Chiara Biasoli, Renato Marino, Andrea Buzzi, Daniele Preti, Luigi Sannino, Rosaria Tempre, Sara Bendinelli, Elena Pompeo, Giacomo Siri and Giancarlo Castaman
J. Clin. Med. 2024, 13(11), 3036; https://doi.org/10.3390/jcm13113036 - 22 May 2024
Viewed by 1120
Abstract
Background: This study aimed to gather data on physical activity (PA), bleeding, health-related quality of life, and health status, using a wearable device and an electronic patient-reported outcome (ePRO) app, in individuals with moderate or severe hemophilia A (HA) without inhibitors receiving treatment [...] Read more.
Background: This study aimed to gather data on physical activity (PA), bleeding, health-related quality of life, and health status, using a wearable device and an electronic patient-reported outcome (ePRO) app, in individuals with moderate or severe hemophilia A (HA) without inhibitors receiving treatment according to the clinical practice. Methods: This is a 12-month multicenter cohort study conducted in Italy. The primary outcomes included the description of PA by type and intensity, adherence to World Health Organization guidelines, bleeding, and health-related quality of life by EQ-5D questionnaire. PA data were collected continuously through a fitness tracker worn by the patient; all the other variables were collected through ePRO questionnaires. Results: Only 54 of the 103 enrolled subjects (52.4%) used their fitness tracker for the defined valid period; adolescents were the least compliant age group. PA was performed at low rates and intensity. Approximately 52% of the subjects had sedentary behavior. The mean EQ-5D values did not change over time. At least one bleeding was reported in 43.7% of the subjects, mostly with sedentary behavior. The PA in the 2 days preceding the bleeding was comparable to the one observed in the overall observational period. Conclusions: The systematic recording of data through a fitness tracker and ePRO app shows that subjects with HA without inhibitors have lower-than-expected PA and that they still experience issues related to bleeding. Full article
(This article belongs to the Special Issue Challenges in the Management of Hemophilia)
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10 pages, 210 KiB  
Article
Better Communication for Better Management of Persons with Hemophilia: Results from a Patients’-Clinicians’ Project to Address the New Therapeutic Landscape
by Laura Banov, Silvia Linari, Luigi Ambroso, Enrico Ferri Grazzi, Samanta Gallo, Patrizio Pasqualetti and Maria Elisa Mancuso
J. Clin. Med. 2024, 13(2), 568; https://doi.org/10.3390/jcm13020568 - 19 Jan 2024
Viewed by 1122
Abstract
Applying the Delphi method, this study aims at characterizing the perceptions and needs of physicians, individuals with hemophilia, and their caregivers in relation to the management of routine visits during regular follow-ups. A single structured questionnaire, prepared by an advisory board, was administered [...] Read more.
Applying the Delphi method, this study aims at characterizing the perceptions and needs of physicians, individuals with hemophilia, and their caregivers in relation to the management of routine visits during regular follow-ups. A single structured questionnaire, prepared by an advisory board, was administered to 139 participants, comprising hemophilia treaters, patients and caregivers, during the period from May to June 2023. Agreement (defined following the Delphi method as developed by RAND Corporation) was reached on several topics. The Principal Component Analysis methods identified the four most relevant areas where consensus was reached among the interviewees, underscoring the necessity for in-depth discussions during routine visits: (1) medical aspects related to symptoms, life-limitations, pain, etc.; (2) non-medical related aspects (ambitions, lifestyle, network, etc.); (3) logistical-organizational aspects (home–hospital distance, alternative modalities of communication); and (4) visit duration and telemedicine integration. The results of both the Delphi and Principal Component Analysis underline that the care of individuals with hemophilia extends beyond merely prescribing drugs or treatment regimens. Instead, it necessitates consideration of numerous variables from both therapeutic and non-therapeutic domains, all of which are deemed important for the holistic management of the individuals. As a result, these aspects are routinely discussed and addressed during visits. Full article
(This article belongs to the Special Issue Challenges in the Management of Hemophilia)

Review

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12 pages, 291 KiB  
Review
Teenagers and Adolescents with Hemophilia–Need for a Specific Approach
by Christoph Königs, Jayashree Motwani, Víctor Jiménez-Yuste and Jan Blatný
J. Clin. Med. 2024, 13(17), 5121; https://doi.org/10.3390/jcm13175121 - 29 Aug 2024
Viewed by 343
Abstract
Adolescents with hemophilia are a patient population with special requirements, having to manage their condition alongside the typical challenges of adolescence. Given the psychosocial impact of hemophilia and a desire to fit in with non-hemophilic peers, they may perceive treatment as more of [...] Read more.
Adolescents with hemophilia are a patient population with special requirements, having to manage their condition alongside the typical challenges of adolescence. Given the psychosocial impact of hemophilia and a desire to fit in with non-hemophilic peers, they may perceive treatment as more of a burden than a benefit. This can result in low adherence and a high risk of hemophilia-related complications. Hemophilia management has changed over time. To best inform shared decision-making with adolescent patients and their families, healthcare professionals must consider all the currently available evidence, highlighting treatment benefits as appropriate. They should also appreciate the requirements of all adolescents affected by hemophilia, including individuals with non-severe disease and girls/women. We discuss specific issues relating to the management of adolescents with hemophilia: prevention and management of bleeds, treatment adherence, joint health and physical activity, and other health-related issues. A multidisciplinary approach is advocated, and the potential role of digital technology in helping to equip patients with self-management skills to fully engage with treatment is considered. Currently, available hemophilia management generally enables adolescents with hemophilia to lead normal lives, participating in physical activities while maintaining good joint health. However, more work is required to help address both actual and perceived limitations. Full article
(This article belongs to the Special Issue Challenges in the Management of Hemophilia)
14 pages, 572 KiB  
Review
Total Knee Arthroplasty in People with Hemophilia: Higher Incidence of Periprosthetic Joint Infection and 1-Year Revision/Re-Operation than the General Population and Lower Prosthetic Survival When Early Postoperative Bleeding Complications Occurred: Current Literature Review
by Emerito Carlos Rodriguez-Merchan, Mario Mosconi, Hortensia De la Corte-Rodriguez, Eugenio Jannelli and Gianluigi Pasta
J. Clin. Med. 2024, 13(8), 2447; https://doi.org/10.3390/jcm13082447 - 22 Apr 2024
Viewed by 1016
Abstract
The purpose of this narrative review of the recent literature is to analyze the outcomes, complications, and implant survival of total knee arthroplasty (TKA) carried out on people with hemophilia (PWH). It has been shown that TKA substantially alleviates preoperative pain and improves [...] Read more.
The purpose of this narrative review of the recent literature is to analyze the outcomes, complications, and implant survival of total knee arthroplasty (TKA) carried out on people with hemophilia (PWH). It has been shown that TKA substantially alleviates preoperative pain and improves knee function and the patient’s quality of life. However, the complication rates of TKA range between 8.5% and 28.7, with postoperative hemarthrosis being the most frequent (7.6%). Besides, when comparing if the TKA was implanted before or after the year 2000, a reduction was found in the rates of periprosthetic joint infection—PJI (6.2% to 3.9%) and aseptic loosening (3.8% to 2.1%). Comparing prosthesis survival between PWH who had suffered early postoperative bleeding complications (EPBC) and patients who did not suffer EBPC, the mean survival duration was 17 years for the EPBC group and 22.1 years for the non-EPBC group. Survival rates were 80% for the EPBC group and 96.4% for the non-EPBC group. Compared to patients without hemophilia, PWH had a substantially higher incidence of PJI (Odds Ratio—OR 1.6) and 1-year revision/re-operation (OR 1.4). In short, although TKA substantially improves the quality of life of PWH, it is an intervention that has a non-negligible percentage of complications. TKA in PWH should preferably be performed only in highly specialized centers for the orthopedic treatment of hemophilia. Full article
(This article belongs to the Special Issue Challenges in the Management of Hemophilia)
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