HMB is a highly prevalent symptom in women with BD and with BDUC. Menstruation related quality of life was impaired in BDUC patients and even more in BD patients compared to the general population.
In up to 60% of all patients with MBD, no underlying cause can be identified, despite exhaustive investigations of plas-matic coagulation and platelet function. These patients are categorized with bleeding disorder of unknown cause (BDUC). BDUC patients exhibit a bleeding phenotype and severity indistinguishable from those with well-defined mild bleeding disorders, such as mild von Willebrand disease (VWD), mild platelet function defects (PFDs), or mild coagulation factor deficiencies (CFDs). Furthermore, impaired hemostatic capacity reflected by reduced thrombin generation potential and/or abnormal plasma clot formation and lysis support the diagnosis of BDUC as a separate entity of MBDs.
Patients with MBDs, particularly those with BDUC, face a risk of recurrent bleeding, as demonstrated by prospective data from the Vienna Bleeding Biobank (VIBB) and other research cohorts. In fact, a majority of BDUC patients have persistent mild bleeding symptoms, including epistaxis and easy bruising, alongside an elevated risk for more severe bleeding events following surgery, tooth extraction, or during postpartum hemorrhage (PPH). While prophylactic treatments involving desmopressin (DDAVP) and/or tranexa-mic acid (TXA) have shown some efficacy in reducing bleeding complications, a substantial cohort of patients continues to experience bleeding episodes. Moreover, these patients contend with adverse effects on their health-related quality of life, affecting both physical and mental well-being. Overall, clinical and translational data in the last decade have demonstrated the relevance of BDUC as a distinct bleeding disorder and therefore the need for identifying and registering these patients.
In more than half of the individuals with a clinically relevant bleeding tendency who are referred to hemostasis experts, no biological etiology can be found after extensive laboratory testing. These persons are diagnosed with an unexplained bleeding tendency or “bleeding disorder of unknown cause” (BDUC). The mucocutaneous bleeding phenotype of individuals with BDUC is generally comparable to that of individuals with inherited bleeding disorders such as von Willebrand disease or platelet function disorders. BDUC definitions applied in literature are heterogeneous, but all comprise 2 main criteria: (1) there is an increased bleeding tendency based on the clinical view of the physician and/or an increased bleeding score; (2) no abnormalities are found with available hemostasis laboratory tests. This is reflected in the recent published BDUC definition by the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis, stating that BDUC is a diagnosis of exclusion, characterized by normal hemostatic investigations despite a clinically significant bleeding tendency. Importantly, other nonhemostatic and acquired causes of bleeding should be excluded, but details on exclusion criteria and associated diagnostic testing remain undefined.
BUC/UBD encompasses a heterogenous group of disorders which may include undiagnosed rare monogenic diseases, polygenic reasons for bleeding; and patients without a clear bleeding disorder but with a previous bleeding event. Nevertheless, these patients may have heavy menstrual bleeding or be at risk of bleeding when undergoing surgical procedures, or childbirth; optimizing haemostasis and establishing a mode of inheritance is important to minimize morbidity.
To diagnose bleeding disorder of unknown cause (BDUC), normal complete blood count, prothrombin time, activated partial thromboplastin time, thrombin time, von Willebrand factor antigen, von Willebrand factor function, coagulation factors VIII, IX, and XI, and platelet light transmission aggregometry should be the minimum laboratory assessment. In some laboratories, additional specialized hemostasis testing may be performed to identify other rare causes of bleeding. We recommend that patients with a significant bleeding phenotype but normal laboratory investigations should be registered with a diagnosis of BDUC in preference to other terminology.
(ps most gynaecologists probably don’t even know about it, it’s quite common in women and you might get prescribed hormones/contraceptives (same trash) which are completely irrelevant also it’s similar to haemophilia when it comes to certain clinical features! Women in the old days weren’t aware that they had this! There were not that many doctors nor specialists available in the rural areas/places away from the city at that time! This might have been one of the few insidious phenomena that caused people to bleed to death!) PARTICULARLY WOMEN!
Another reason on why I cover this is because there are many women who have bleeding disorder like me, it’s not always a picture perfect world we live in when it comes to drugs and treatments, there are still many things that are yet to be discovered by the medical community and that’s what makes medical writing a fascinating read and write! TXA tablets and fresh orange juice were what helped me recover and that too at a slow pace! When I first went to the gynaecologist all she told me was that I was fine! Obviously looking back now I wish my younger self knew that wasn’t the case!
On further reading;
https://www.sciencedirect.com/science/article/pii/S247503792400267X
Sources:
https://www.sciencedirect.com/science/article/pii/S2475037924003200
https://www.rdm.ox.ac.uk/publications/1152580
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