About this Research Topic

Background

Primary (von Willebrand disease, platelet dysfunction) and secondary (clotting factor deficiency) hemostatic defects can be either inherited or acquired.

Primary hemostasis involves the interaction between von Willebrand factor and platelets. The most common hereditary coagulation disorder, affecting 1-2% of the population, is von Willebrand disease. Many patients do not experience significant bleeding symptoms in their daily lives; however, they may face life-threatening bleeding during surgeries or trauma. Unlike inherited von Willebrand disease, acquired von Willebrand disease often arises due to an underlying condition, such as myeloproliferative neoplasms or conditions with increased shear stress. Platelet dysfunction (thrombocytopathy) may be associated with a reduced number of platelets (thrombocytopenia) in inherited platelet disorders (IPD). The severity of bleeding tendencies can vary widely. This variability is also observed in acquired thrombocytopathy/thrombocytopenia, which can occur due to severe infections, surgeries, or other underlying conditions like malignancies and inflammation. In secondary hemostasis, the activity of individual clotting factors may be diminished due to genetic mutations or the presence of antibodies against specific clotting factors.

All of these acquired or inherited defects can reduce the quality of life for patients due to bleeding episodes and, in some cases, lead to life-threatening complications. The clinical presentation of bleeding cannot always distinguish between primary and secondary hemostasis or between acquired and inherited disease etiologies. Patients often experience bleeding episodes that are not adequately treated, primarily because a correct diagnosis was never established. Therefore, specialized and strategic diagnostics are necessary to establish an accurate diagnosis and initiate targeted treatment. International networks of specialists could improve patient care by automatically referring patients to specialists for specific conditions. Regular subnetwork meetings to discuss complex cases among specialists might also contribute to better patient care.

The aim of this Research Topic is to address the challenges in diagnosing and managing both inherited and acquired hemostatic defects. Recent advances have shown promise in genetic characterization, development of targeted treatments, and the establishment of specialist networks to facilitate patient care.

We particularly welcome contributions that include, but are not limited to, the following topics:

Inherited von Willebrand Disease:
- Identification of Genetic Variants and correlation with Clinical Bleeding History

Acquired von Willebrand Disease:
- Investigation of the Broad Range of Conditions and Treatment for AVWS

Inherited Platelet Disease:
- Novel Mutations Associated with IPD and their implications
- Association between IPD and Myeloid Malignancies

Acquired Thrombocytopathia/Thrombocytopenia:
- Comprehensive Characterization of Mechanisms Leading to Increased Activation/Degradation of Platelets

Inherited Coagulation Defects:
- Outcome of patients with inherited hemophilia A or hemophilia B under prophylactic Factor substitution

Acquired Coagulation Defects:
- Therapeutic Approaches to Different Acquired Coagulation Defects

Scoping Review:
- Existing and Potential Networks for Rare Coagulation Diseases, Including Primary and Secondary Hemostasis

We invite authors to contribute to this field of knowledge by welcoming all article types. For more information regarding particular article types, please visit: www.frontiersin.org/journals/medicine/for-authors/article-types

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Clinical Trial
• Data Report
• Editorial
• General Commentary
• Methods
• Mini Review
• Opinion
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Clinical Trial
• Data Report
• Editorial
• General Commentary
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Review
• Study Protocol
• Systematic Review

Keywords: Inherited or Acquired Platelet Disorders, Inherited or Acquired von Willebrand disease, Inherited or Acquired Factor Deficiency, Acquired or Inherited Hemophilia

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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