In April 2024, the Medical and Scientific Advisory Council (MASAC) of the National Bleeding Disorders Foundation (NBDF) released updated clinical practice guidelines for the "Diagnosis and Management of Inherited Bleeding Disorders in Girls and Women with Personal and Family History of Bleeding" (MASAC Document #286). These revisions build upon the 2021 guidance (MASAC Document #264), incorporating recent evidence and offering more comprehensive, patient-centered, and multidisciplinary approaches to diagnosis and management. The update is particularly relevant for clinicians across hematology, gynecology, and primary care, given the nuanced presentations and evolving standards of care in this population.
Guidelines Referenced
- Diagnosis and Management of Inherited Bleeding Disorders in Girls and Women with Personal and Family History of Bleeding (MASAC Document #286)
- Published: April 2024
- Diagnosis and Management of Inherited Bleeding Disorders in Girls and Women with Personal and Family History of Bleeding (MASAC Document #264)
- Published: March 2021
Guideline Updates
| Section | 2024 | 2021 |
|---|---|---|
| Bleeding Symptoms | History of bruising or prolonged bleeding >10 minutes from cuts: Bruises larger than 1 cm in diameter, especially in the proximal upper and lower extremities, as well as trunk and back | Not addressed |
| History of mucosal bleeding: Epistaxis lasting >10 minutes or at least 5/year. | Not addressed | |
| History of post-operative bleeding including bleeding >3 hr after dental extraction | Not addressed | |
| History of iron deficiency | Not addressed | |
| History of severe or unexplained postpartum hemorrhage | Not addressed | |
| History of heavy menstrual bleeding (HMB): Perceived heavy menses affecting quality of life; Lasting ≥8 days.; Consistently soaks through 1 or more menstrual protection item every 2 hours on multiple days.; Requires use of ≥1 menstrual protection item at a time.; Requires changing menstrual protection during the night.; Associated with repeat passing of blood clots.; Pictorial Bleeding Assessment Chart (PBAC) score >100. | Heavy menstrual bleeding (HMB) can be defined as: Lasting >8 days; Consistently soaks through 1 or more sanitary protections every 2 hours on multiple days; Requires use of >1 sanitary protection item at a time; Requires changing sanitary protection during the night; Associated with repeat passing of blood clots; Pictorial Blood Assessment Chart (PBAC) score > 100. In clinical practice, HMB is defined as excessive menstrual loss, which interferes with a woman’s physical, social, emotional, and/or material quality of life. In terms of blood loss, HMB is defined as a menstrual blood loss of >80 mL per period. | |
| Diagnostic Evaluation | The differential diagnosis in anyone with excessive uterine bleeding should include von Willebrand Disease (VWD) and other inherited bleeding disorders as well as connective tissue and hypermobility disorders. | Von Willebrand Disease (VWD) and other inherited bleeding disorders should be considered in the differential diagnosis of all girls and women presenting with heavy menstrual bleeding (including all girls and women scheduled for endometrial ablation and/or hysterectomy for heavy menstrual bleeding or abnormal uterine bleeding) and those who have other significant personal or family history of bleeding. Bleeding assessment tools may be utilized in the primary care setting to identify women with significant bleeding tendency who warrant evaluation. |
| Ideally, diagnostic testing should occur in the absence of anemia, active bleeding, pregnancy, or inflammatory states. | Not addressed | |
| Initial testing and evaluation should include the following: CBC; Coagulation factors (PT, PTT, fibrinogen); VWD panel: factor VIII activity, VWF activity, VWF antigen; Additionally, ferritin should be obtained to assess for iron deficiency.; Beighton score | Initial testing should include a CBC, PT, PTT, and a TT or fibrinogen. Additional testing specifically for VWD should include factor VIII activity, platelet-dependent VWF activity (VWF: GP1bM, VWF: GP1bR), VWF antigen. This workup should be done in consultation with a hematologist who is well versed in the diagnosis of inherited bleeding disorders. Testing should be completed at a reference laboratory that specializes in coagulation testing and blood samples should be drawn on-site to avoid delays in processing that could alter results. (3) [see also MASAC document #262] Additional testing may be indicated depending on the results to confirm diagnosis of VWD and distinguish the subtype. If initial testing is negative, then additional evaluation should be considered for platelet function disorders, factor XIII deficiency, fibrinolytic disorders, and connective tissue disorders. | |
| Any provider can initiate screening or testing, but ruling out and confirmation of the diagnosis should be performed in consultation with a hematologist, particularly in the setting of bleeding symptoms and family history of bleeding disorder. | Not addressed | |
| Labs should be drawn on-site at a reference laboratory that specializes in coagulation testing to avoid delays in processing that could alter results. [see also MASAC document #262] | Not addressed | |
| Re-testing is appropriate if the VWF levels are normal but <100% or to confirm the diagnosis. | Not addressed | |
| If initial testing is negative in the setting of positive screening for bleeding symptoms, then additional evaluation should be considered for platelet function disorders, other factor deficiencies, fibrinolytic disorders, and connective tissue and hypermobility disorders. | Not addressed | |
| In the setting of a family history of inherited bleeding disorder, screening for the relevant factor activity level should be performed as soon as feasible and prior to any planned surgical procedure regardless of age. Additionally, screening, and initial diagnostic testing should be performed if indicated by bleeding symptoms. | If there is a positive family history of a bleeding disorder, girls and women should have the appropriate factor activity level determined as soon as feasible and definitely prior to any planned surgical procedure regardless of age. | |
| Those with chronic heavy menstrual bleeding should be regularly evaluated and treated for iron deficiency if ferritin <30 ng/ml even if hemoglobin is within normal limits. | Girls and women with abnormal uterine bleeding should be regularly evaluated and treated for iron deficiency (anemia). | |
| Role of the HTC in access to care | All those with inherited bleeding disorders should have access to care within a Hemophilia Treatment Center or other clinical program with expertise in bleeding disorders. | Girls and women with inherited bleeding disorders should have access to care within a Hemophilia Treatment Center or other clinical program with expertise in bleeding disorders. |
| HTCs should take an active role in ensuring access to culturally competent care, including in population screening and referral and facilitation of diagnostic testing and ongoing management with inter-disciplinary collaboration. | Not addressed | |
| Additionally, HTCs should take an active role in advocating for financial access to off-label medications and access to a full range of options for evidence-based reproductive healthcare, including contraception, gender-affirming hormone therapy, induced abortion, and fertility treatments. HTCs should advocate for removing barriers to optimal care, including improving geographic access to obstetric care. [see also MASAC document #269] | Not addressed | |
| Those with excessive uterine bleeding should be managed ideally within a multidisciplinary clinic with a hematologist and gynecologist. | Not addressed | |
| Optimal care should include access to an adolescent health expert (age-dependent), social worker, physical therapist, and nutritionist. | Not addressed | |
| People with inherited bleeding disorders should have access to genetic counseling and testing for diagnostic purposes and family testing and planning. | Girls and women should have access to genetic counseling and genetic testing for diagnostic purposes and family testing and planning. | |
| All those with inherited bleeding disorders should have access to appropriate evidence-based treatment options, including antifibrinolytics, hormone therapy, DDAVP, factor replacement products when clinically indicated, and iron supplementation therapies. | Girls and women with inherited bleeding disorders should have access to the appropriate treatment including antifibrinolytics, DDAVP and factor replacement products when clinically indicated. Cryoprecipitate and fresh frozen plasma should not be used unless the patient is at risk of life-threatening bleeding and a Factor VIII/Von Willebrand Factor concentrate is not rapidly available. | |
| Management | All patients should have an individualized treatment and emergency plan depending on their diagnosis, bleeding, and co-morbidities. | Individualized treatment and emergency plans should be developed depending on the diagnosis, bleeding, and co-morbidities. |
| All patients should have a perioperative management plan for any invasive procedures. | Perioperative management should be developed for women undergoing invasive procedures. | |
| All pregnant patients should have a pregnancy and obstetric management plan. [See MASAC Document #265] | Pregnancy and delivery plans should be in place for pregnant women. See MASAC Document #265. | |
| Heavy menstrual bleeding should be managed through a multidisciplinary approach informed by patient preferences and frequently requires multiple concomitant therapies to achieve treatment goals (e.g. hormonal therapies plus antifibrinolytics). | Heavy menstrual bleeding should be managed through a multidisciplinary approach informed by patient preferences. Hormonal therapy (combined hormonal contraception [CHC] or levonorgestrel-releasing intrauterine system) or tranexamic acid over desmopressin is advised to treat women with VWD who do not wish to conceive. (conditional recommendation based on very low certainty in the evidence of effects). This recommendation does not imply that the interventions considered can be prescribed only as monotherapy. In some cases, multiple options can be combined, especially if control of heavy menstrual bleeding is less than optimal with the initial therapy. Desmopressin is not effective in type 3 and many type 2 VWD patients and is contraindicated in type 2B VWD. Women may require additional treatment directed at bleeding symptoms for the first several menstrual cycles after placement of a levonorgestrel-releasing intrauterine system. | |
| Education and research recommendations | we recommend a continued national outreach and education program | National outreach and education program should be continued |
| Public health education should include primary and secondary health education objectives related to heavy menstrual bleeding and iron deficiency. | Not addressed | |
| Medical education objectives targeted to health care professionals (e.g. pediatricians, hematologists/oncologists, internists, OB/GYN, family practitioners, emergency department personnel and dentists as well as advanced practice clinicians in these fields), should include screening tools. | The target audiences should be health care professionals (e.g. pediatricians, hematologists/oncologists, internists, OB/GYN, family practitioners, emergency department personnel and dentists as well as nurse practitioners in these fields), women’s health advocates, and the general public | |
| National public health outreach, including educational objectives. | Not addressed | |
| Medical education objectives and dissemination. | Not addressed | |
| Create and support multidisciplinary hematology/gynecology and hematology/obstetric clinics to streamline care in coordination with Hemophilia Treatment Centers. | Multidisciplinary clinics including hematology and gynecology which streamline care should be supported. | |
| NBDF should continue to work with NHLBI, the American Thrombosis and Hemostasis Network (ATHN), the Foundation for Women and Girls+ with Blood Disorders, the International Society of Hemostasis and Thrombosis and CDC to develop a national research agenda on women’s bleeding disorders. | NHF should continue to work with NHLBI, the American Thrombosis and Hemostasis Network (ATHN), the Foundation for Women and Girls with Blood Disorders, the International Society of Hemostasis and Thrombosis and CDC to develop a national research agenda on women’s bleeding disorders. |
The 2024 MASAC guideline update represents a step forward in the care of girls and women with suspected or confirmed inherited bleeding disorders. It underscores the importance of nuanced diagnostic strategies, patient-specific management plans, and coordinated multidisciplinary care. Physicians across specialties should be aware of these updates to optimize early identification, reduce diagnostic delay, and ensure equitable, evidence-based treatment for this often-underdiagnosed population.
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