What is the appropriate management for a 26-year-old woman with menorrhagia, easy bruising, epistaxis, and a daughter who has confirmed von Willebrand disease?

Management of Suspected Von Willebrand Disease in a Young Woman with Bleeding Symptoms and Affected Daughter

This 26-year-old woman requires immediate laboratory confirmation of von Willebrand disease followed by type-specific treatment, with desmopressin as first-line therapy for most forms and VWF concentrates reserved for severe or desmopressin-unresponsive cases. 1, 2

Diagnostic Confirmation

Order the following laboratory tests simultaneously to establish diagnosis and VWD type: 3

• VWF antigen (VWF:Ag)
• VWF ristocetin cofactor activity (VWF:RCo) - this is the single most useful screening test as it mimics VWF-platelet receptor interactions 1, 4
• Factor VIII coagulant activity
• Complete blood count with platelet count
• Prothrombin time and activated partial thromboplastin time (though these alone are insufficient to exclude VWD) 3

If VWF activity-to-antigen ratio is <0.5-0.7, order VWF multimer analysis to identify qualitative defects and distinguish between type 2 variants 3. Given her daughter has confirmed VWD and she presents with classic mucocutaneous bleeding (menorrhagia, bruising, epistaxis), the diagnosis is highly likely to be hereditary VWD rather than acquired von Willebrand syndrome 1, 3.

Treatment Strategy Based on VWD Type

For Type 1 VWD (Most Likely - Accounts for ~75% of Cases)

Desmopressin (DDAVP) is the treatment of choice: 2, 4

• Dosing: 0.3 μg/kg IV (maximum 28 μg) administered 30 minutes prior to procedures or for acute bleeding 3, 2
• Mechanism: Stimulates release of stored VWF from endothelial cells, increasing VWF and factor VIII levels 3-6 fold within 30-90 minutes 3
• Repeat dosing: Can be given at 12-24 hour intervals, but tachyphylaxis occurs after 3-5 doses due to endothelial VWF store depletion 3
• Indication: Effective for patients with factor VIII levels >5% 2

For Type 2 or Type 3 VWD (If Confirmed)

VWF/factor VIII concentrates are required: 4, 5

• Type 2B specifically may worsen with desmopressin due to pathologically increased VWF-platelet interactions 6
• Type 3 (complete VWF absence) does not respond to desmopressin as there are no endothelial stores to release 4
• Use plasma-derived or recombinant VWF concentrates for these patients 5

Management of Specific Bleeding Manifestations

Menorrhagia (Heavy Menstrual Bleeding)

Combine hormonal therapy with VWD-specific treatment: 7

• Hormonal contraceptives (combined oral contraceptives or levonorgestrel IUD) to reduce menstrual blood loss
• Tranexamic acid (antifibrinolytic) as adjunctive therapy 7, 5
• Desmopressin can be used during menses if hormonal therapy insufficient 7

Epistaxis (Nosebleeds)

Apply firm sustained compression to the nose as initial intervention 8

Administer desmopressin 0.3 μg/kg IV 30 minutes before any procedural intervention 8

Critical packing considerations: 8

• Use only resorbable packing materials - never use non-resorbable packing in VWD patients
• Apply topical vasoconstrictors to bleeding site
• Consider nasal cautery if specific bleeding site identified
• Perform nasal endoscopy for refractory bleeding to identify posterior sources

Easy Bruising

Optimize baseline VWF levels and educate on trauma avoidance 1, 5

• Document bleeding triggers and frequency
• Consider prophylactic treatment if bruising is severe or frequent

Surgical or Invasive Procedure Planning

Maintain VWF activity levels ≥50 IU/dL throughout procedure and postoperative period: 3

• Administer desmopressin or VWF concentrates 30 minutes prior to procedure 2
• Monitor VWF levels intraoperatively and postoperatively
• Combine with tranexamic acid as appropriate 3

Critical Pitfalls to Avoid

Do not assume all VWD responds to desmopressin - type 2B may worsen, type 3 will not respond, and some type 2 variants show poor response 4, 6

Do not use non-resorbable nasal packing for epistaxis management in VWD patients 8

Do not rely on PT/aPTT alone - these are often normal in VWD and cannot exclude the diagnosis 3

Do not overlook the need for postpartum prophylaxis - women with VWD require interdisciplinary management during childbirth with prophylaxis extending into the postpartum period to prevent hemorrhage 7

Genetic Counseling and Family Planning

Offer genetic testing to confirm VWF gene variants for reproductive planning and family counseling 7, 5

• Most VWD patients have identifiable VWF gene DNA variants
• Next-generation sequencing provides comprehensive VWF sequence information
• Important for counseling regarding inheritance patterns (autosomal dominant for types 1 and 2; autosomal recessive for type 3) 1, 6

Monitoring and Follow-Up

Establish baseline bleeding scores using standardized questionnaires to track disease severity and treatment response 9

Monitor VWF:RCo, VWF:Ag, and factor VIII levels during treatment to ensure adequate hemostatic levels are achieved 1, 2

Coordinate care with hematology for ongoing management, particularly if desmopressin trial shows inadequate response or if severe bleeding episodes occur 1