Heavy menstrual bleeding since menarche

Specialty: Hematology.

• Primary menorrhagia
• abnormal uterine bleeding of hematological origin
• hypermenorrhea of adolescence

Why it occurs

• Von Willebrand disease type 1 or type 2 (the most common hereditary coagulopathy; quantitative or qualitative deficiency of von Willebrand factor critically impairs initial platelet adhesion to the subendothelium and the stability of circulating factor VIII)
• Congenital platelet dysfunction / Glanzmann's thrombasthenia or Bernard-Soulier syndrome (structural alterations of the platelet membrane glycoproteins IIb/IIIa or Ib-IX-V, respectively, which prevent platelet aggregation or adhesion)
• Hemophilia A or B carrier status (heterozygous women with decreased factor VIII or IX levels due to extreme lyonization or asymmetric inactivation of the X chromosome)
• Rare congenital coagulation factor deficiencies (especially factor VII, XI or V deficiencies)
• Chronic immune thrombocytopenic purpura of childhood and adolescent onset.

Initial workup

Complete blood count with manual platelet count and peripheral blood smear (to evaluate morphology and rule out thrombocytopenia or spurious aggregation); conventional coagulation times (prothrombin time - PT, activated partial thromboplastin time - aPTT and thrombin time); specific tests for von Willebrand Disease that include quantification of von Willebrand factor antigen (vWF:Ag), ristocetin cofactor activity (vWF:RCo), and functional factor VIII activity; platelet aggregometry testing using multiple agonists (ADP, collagen, epinephrine, ristocetin) if hereditary thrombopathy is suspected; transvaginal or abdominal gynecological pelvic ultrasound (to rule out uterine structural anatomical anomalies such as polyps, fibroids or Müllerian malformations).

Standard management

• Tranexamic acid — oral antifibrinolytic; usual dose of 1,000 to 1,500 mg every 8 hours during days of active menstrual bleeding; stabilizes fibrin in the uterine endometrium, significantly reducing the volume of blood loss; contraindicated if there is a personal history of active venous thromboembolism
• Desmopressin / DDAVP — synthetic analogue of vasopressin for intravenous or intranasal administration; induces the release of endogenous deposits of von Willebrand factor and factor VIII from the Weibel-Palade bodies of endothelial cells, indicated in von Willebrand disease type 1 after a response test
• Combined oral contraceptives / Progestin-only formulations — hormonal support therapy to atrophy the endometrium and regularize bleeding, closely coordinated with hematology
• Von Willebrand Factor Concentrate / Recombinant Factor VIII (indicated in cases of massive bleeding refractory to conventional measures or in the face of scheduled surgical procedures).