Inherited mild bleeding disorders are routinely seen in clinical practice and are often associated with bleeding complications that can significantly lower quality of life for patients. The term “mild bleeding disorder” broadly refers to the severity of bleeding, which is clinically determined without the use of laboratory testing. Although pathogenically distinct, the most prevalent disorders, which include various clotting factor deficiencies, platelet function disorders, and Type 1 von Willebrand Disease (VWD), share similar clinical symptoms and diagnostic challenges.

In a review article published in the Journal of Thrombosis and Haemostasis, Diego Mezzano, MD, of the department of hematology and oncology at the University of Chile in Santiago, and colleagues summarized the current literature surrounding the diagnostic challenges of these bleeding disorders. They also reviewed existing diagnostic assessment tools and laboratory techniques and explained the ongoing need for more translational research related to these conditions.

David Page, national director of health policy at the Canadian Hemophilia Society, told Hematology Advisor, “We experience long delays in getting accurate diagnoses and treatment for [these disorders], especially von Willebrand disease. Women are [often] told they cannot have a [mild] bleeding disorder because they affect only men, which is not true.”

Pathogenesis of Mild Bleeding Disorders

Over the past few decades, research surrounding inherited mild bleeding disorders has largely involved elucidating the molecular mechanisms causing ineffective hemostasis. Although recent research has provided insight into the molecular structure and function of the various clotting factors, proficient clinical diagnosis of these disorders is lacking. The clinical features of these conditions are very similar, with patients often presenting with nonspecific symptoms, such as mucocutaneous bleeding.

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The pathogenesis of platelet function disorders and Type 1 VWD are both characterized by defects in interactions between platelets and vessel walls. However, individuals with these disorders often solely display mucocutaneous bleeding, if they have any distinguishable bleeding whatsoever. In addition, bleeding in these conditions is often not restricted to 1 site, but is instead extemporaneous and can be unrelated to the level of disease severity.

Diagnostic Challenges

Clinical assessment of patients with inherited mild bleeding disorders typically involves the assessment of self- or health care provider-reported bleeding symptoms, which can make determination of the underlying disease pathology challenging. Standardized evaluation tools are unable to differentiate between comparable bleeding patterns, and many of these disorders share similar profiles of bleeding severity, recurrence rate, and bleeding location.