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Congenital Bleeding Disorders: Diagnosis, Treatment and Future Opportunities
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Congenital Bleeding Disorders: Diagnosis, Treatment and Future Opportunities

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

Deadline for manuscript submissions: closed (30 June 2024) | Viewed by 5016

Special Issue Editors

Dr. Carlo Zaninetti

E-Mail Website
Guest Editor
Institut für Transfusionsmedizin, Universitätsmedizin Greifswald, 17475 Greisfwald, Germany
Interests: platelet pathophysiology; platelet function testing; diagnostic and clinical aspects of inherited platelet disorders; immune-mediated platelet disorders; platelet transfusions; bleeding disorders; morphologic assessment of peripheral blood cells by light- and immunofluorescence microscopy
Dr. Loredana Bury

E-Mail Website
Guest Editor
Department of Medicine and Surgery, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy
Interests: platelet function testing; genetics of inherited platelet disorders; pathogenic mechanisms of inherited platelet disorders; megakaryocytes and proplatelet formation; platelet pathophysiology
Dr. Maria Eugenia De la Morena-Barrio

E-Mail Website
Guest Editor
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, 30008 Murcia, Spain
Interests: hemostasis; rare bleeding disorders; factor XI deficiency; antithrombin deficiency; thrombosis; congenital disorders of glycosylation; anticoagulant therapy; gene therapy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Congenital bleeding disorders are a group of highly heterogeneous conditions impairing primary or secondary haemostasis. Affected patients present with variable bleeding tendency and sometimes other congenital or acquired clinical features. These disorders range from relatively common diseases, such as von Willebrand Disease, to rare conditions, such as inherited platelet disorders or coagulation factor deficiencies. In recent decades, the knowledge about these disorders has greatly improved, leading to the discovery of new disorders as well as to a deeper comprehension of the pathogenic mechanisms of known disorders. In addition, major advances have been obtained in the diagnostic field as well in the identification of novel, effective therapeutic options. However, congenital bleeding disorders still suffer from the typical disadvantages of orphan diseases. In fact, their early recognition remains complicated, and the patient access to some therapeutic opportunities challenging.

In this Special Issue, we invite submissions that focus on the natural history or pathogenesis of congenital disorders of primary and secondary haemostasis, or state of the art in the diagnosis and management of these disorders. Submissions can be in the form of reviews providing insights into the current knowledge as well as original researches that address the key questions in this area, with particular emphasis on the diagnostic and therapeutic perspectives. We look forward to receiving your submissions.

Dr. Carlo Zaninetti
Dr. Loredana Bury
Dr. Maria Eugenia De la Morena-Barrio
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • bleeding tendency
  • inherited platelet disorders
  • coagulation factor deficiencies
  • genetics
  • diagnostic tests for congenital bleeding disorders
  • management of congenital bleeding disorders
  • pathogenic mechanisms

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Published Papers (3 papers)

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Research

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13 pages, 282 KiB  
Article
A Qualitative Study Exploring the Experiences and Perceptions of Patients with Hemophilia Regarding Their Health-Related Well-Being, in Salamanca
by Laura Ramos-Petersen, Juan Antonio Rodríguez-Sánchez, Jonathan Cortés-Martín, Andrés Reinoso-Cobo, Juan Carlos Sánchez-García, Raquel Rodríguez-Blanque and Juan R. Coca
J. Clin. Med. 2023, 12(16), 5417; https://doi.org/10.3390/jcm12165417 - 21 Aug 2023
Viewed by 1854
Abstract
Hemophilia is a chronic, congenital/hereditary and X-linked disease, characterized by an insufficiency of factors VIII or IX, which are necessary for blood clotting. Those affected by hemophilia often suffer from particular psychosocial problems, both in the acceptance, coping, treatment and self-management of their [...] Read more.
Hemophilia is a chronic, congenital/hereditary and X-linked disease, characterized by an insufficiency of factors VIII or IX, which are necessary for blood clotting. Those affected by hemophilia often suffer from particular psychosocial problems, both in the acceptance, coping, treatment and self-management of their disease and in their family and social relationships, which are often mediated by these circumstances. The aim of this study was to explore the experiences of people with hemophilia or their family members, of in a specific region of Spain, regarding the impact of having hemophilia. Structured interviews were conducted and developed, using the studies of the World Federation of Hemophilia and Osorio-Guzmán et al. as a guide, as well as a literature review of qualitative work on hemophilia. Data were analyzed using a six-step thematic analysis. A total of 34 interviews were thematically analyzed. The results showed that three key themes emerged from the data: (1) the daily impact of having hemophilia, (2) uncertainty about the disease, (3) the role of associations and (4) support from institutions. The results make it clear that the disease has a major impact on their lives (work, family, leisure and personal environment). The main conclusion is that hemophilia has a negative impact on the daily lives of patients, families and caregivers. Full article
(This article belongs to the Special Issue Congenital Bleeding Disorders: Diagnosis, Treatment and Future Opportunities)

Review

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13 pages, 1554 KiB  
Review
Management of Microvascular Bleeding after On-Pump Cardiac Surgery in a Patient with Perioperative Diagnosis of Impairment of Platelet Responses to Adenosine Diphosphate: A Case Report and a Literature Review
by Jacopo D’Andria Ursoleo, Margherita Licheri, Gaia Barucco, Sara Breggion, Francesco De Simone and Fabrizio Monaco
J. Clin. Med. 2023, 12(19), 6372; https://doi.org/10.3390/jcm12196372 - 5 Oct 2023
Cited by 2 | Viewed by 1445
Abstract
Background: Impairment of platelet responses to adenosine diphosphate (ADP) is typified by mild to severe bleeding diathesis, easy bruising, excessive mucosal and post-operative bleeding. Patients lack full platelet activation and aggregation in response to ADP. Following research of the literature in Scopus, PubMed/MEDLINE, [...] Read more.
Background: Impairment of platelet responses to adenosine diphosphate (ADP) is typified by mild to severe bleeding diathesis, easy bruising, excessive mucosal and post-operative bleeding. Patients lack full platelet activation and aggregation in response to ADP. Following research of the literature in Scopus, PubMed/MEDLINE, ScienceDirect, and the Cochrane Library, we report only 18 patients described to date with impaired platelet response to ADP, none of whom in the high bleeding-risk surgical setting or exploring potential therapeutic options. Data regarding population, putative genetic mutations, modes of inheritance, functional defects, and related clinical manifestations were retrieved from case series and case reports. Case presentation: A 40-year-old woman was scheduled for on-pump cardiac surgery. Her past medical history included episodes of spontaneous mucocutaneous hemorrhages of the mild entity since childhood. Multiple electrode aggregometry (MEA, Multiplate® Roche Diagnostics, Rotkreuz, Switzerland) was used to evaluate platelet response to thrombin-activated peptide-6 (TRAP), arachidonic acid (ASPI), and ADP. An inadequate platelet aggregation induced using a high concentration of ADP with normal TRAP and ASPI tests was detected preoperatively. Therefore, intravenous desmopressin (DVVAP) 0.3 μg/kg body weight was administered to manage microvascular bleeding developed after weaning from cardiopulmonary bypass (CPB). Conclusions: Proper management of impaired platelet response to ADP requires a systematic assessment. The Multiplate analyzer is a valuable tool to promptly detect the disorder when a high clinical suspect is present and obtain insights during high bleeding-risk surgical procedures. DVVAP can be beneficial as first-line therapy in bleeding patients to improve platelet function. Full article
(This article belongs to the Special Issue Congenital Bleeding Disorders: Diagnosis, Treatment and Future Opportunities)
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Other

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11 pages, 489 KiB  
Concept Paper
Genotype–Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study
by Susan Halimeh, Lydia Koch, Gili Kenet, Piotr Kuta, Tess Rahmfeld, Monika Stoll and Ulrike Nowak-Göttl
J. Clin. Med. 2024, 13(1), 49; https://doi.org/10.3390/jcm13010049 - 21 Dec 2023
Cited by 2 | Viewed by 1102
Abstract
Background: Congenital factor VII (FVII) deficiency, a rare bleeding disorder resulting from mutations in the F7 gene with autosomal recessive inheritance, exhibits clinical heterogeneity that lacks a strong correlation with FVII:C levels. The objective of this study was to discern genetic defects and [...] Read more.
Background: Congenital factor VII (FVII) deficiency, a rare bleeding disorder resulting from mutations in the F7 gene with autosomal recessive inheritance, exhibits clinical heterogeneity that lacks a strong correlation with FVII:C levels. The objective of this study was to discern genetic defects and assess their associations with the clinical phenotype in a substantial cohort comprising 785 white women exhibiting FVII:C levels below the age-dependent cut-off percentage. Patients and Methods: Individuals with verified inherited factor VII deficiency underwent i) genotyping using the Sanger method and multiplex ligation-dependent probe amplification (MLPA) to identify F7 mutations, including common polymorphic variants. Additionally, they were ii) categorized based on clinical bleeding scores (BS). Thrombophilic variants and blood groups were also determined in the study participants. Results: The probands in this study encompassed both asymptomatic individuals (referred for a laboratory investigation due to recurrent prolonged prothrombin time; n = 221) and patients who manifested mild, moderate, or severe bleeding episodes (n = 564). The spectrum of bleeding symptoms included epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, postoperative bleeding, and gynecologic hemorrhage. The median ISTH bleeding score (BS) recorded within a two-year period prior to the work-up was 2 (0–17). Notably, this score was significantly higher in symptomatic women compared to their asymptomatic counterparts (3 versus 0; p < 0.001). The corresponding PBAC score before hormonal treatment stood at 225 (5–1200), exhibiting a positive correlation with the ISTH BS (rho = 0.38; p = 0.001). Blood group O was more prevalent in symptomatic women compared to asymptomatic individuals (58 versus 42%; p = 0.01). Among the 329 women (42%), known and novel mutations in the F7 gene, encompassing coding regions, exon/intron boundaries, and the promoter region, were identified, while common polymorphisms were detected in 647 subjects (95%). Logistic regression analysis, adjusted for clinical and laboratory data (including blood group, FVII activity, the presence of F7 gene mutations and/or polymorphisms, thrombophilia status, and additional factor deficiencies) revealed that older age at referral (increase per year) (odds/95% CI: 1.02/1.007–1.03), the presence of blood group O (odds/95% CI: 1.9/1.2–3.3), and the coexistence of further bleeding defects (odds/95% CI: 1.8/1.03–3.1) partially account for the differences in the clinical bleeding phenotype associated with FVII deficiency. Conclusion: The clinical phenotype in individuals with FVII deficiency is impacted by factors such as age, blood group, and the concurrent presence of other bleeding defects. Full article
(This article belongs to the Special Issue Congenital Bleeding Disorders: Diagnosis, Treatment and Future Opportunities)
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