Hematology Oncology · Year 2 · from Hematology Oncology

Case 3: von Willebrand Disease Type 1

Patient Presentation

Demographics: 22-year-old female

Chief Complaint: Referral for evaluation of heavy menstrual bleeding and easy bruising

History of Present Illness: The patient reports lifelong heavy menstrual periods requiring 8-10 pads per day during peak flow, lasting 7-8 days. She has been diagnosed with iron deficiency anemia and has required iron supplementation since adolescence. She also reports easy bruising and prolonged bleeding after dental extraction last year requiring packing. She has had one episode of significant epistaxis requiring emergency department evaluation. Her mother has similar bleeding symptoms. She has never undergone major surgery.

Physical Examination:

  • Vital signs: BP 112/68, HR 82, RR 14, Temp 36.9C
  • General: Healthy-appearing young woman
  • Skin: Several ecchymoses on extremities
  • HEENT: No active epistaxis, no oral petechiae
  • Cardiac: Normal
  • Abdomen: No hepatosplenomegaly

Workup and Results

Complete Blood Count:

  • WBC: 6,800/uL
  • Hemoglobin: 10.2 g/dL (low; iron deficiency)
  • MCV: 76 fL (microcytic)
  • Platelets: 245,000/uL

Iron Studies:

  • Ferritin: 8 ng/mL (low)
  • Iron saturation: 12% (low)

Coagulation Studies:

  • PT/INR: 12.2 sec / 1.0 (normal)
  • aPTT: 38 sec (high-normal to mildly prolonged)

von Willebrand Panel:

  • vWF antigen: 32% (low; normal 50-150%)
  • vWF activity (ristocetin cofactor): 28% (low)
  • Factor VIII activity: 38% (low)
  • vWF multimer analysis: Normal distribution

Blood Type: Type O (lower baseline vWF)

Diagnosis

von Willebrand Disease Type 1

Diagnostic criteria:

  • Reduced vWF antigen and activity (proportionate reduction)
  • Mucocutaneous bleeding pattern (menorrhagia, bruising, epistaxis)
  • Positive family history (autosomal dominant)
  • Factor VIII mildly reduced (vWF is carrier for FVIII)
  • Normal multimer pattern
  • Blood type O (naturally lower vWF levels)

Treatment Plan

  1. DDAVP trial:
  • Test response with DDAVP (desmopressin) infusion
  • Expected 2-5 fold increase in vWF and FVIII
  • If adequate response, can use for bleeding or procedures
  1. Menorrhagia management:
  • Combined oral contraceptives (increase vWF levels)
  • Tranexamic acid during menses
  • Iron supplementation to correct anemia
  1. For procedures/bleeding:
  • DDAVP intranasal (Stimate) or IV before procedures
  • vWF concentrate if DDAVP-unresponsive or contraindicated
  • Antifibrinolytics (tranexamic acid) as adjunct
  1. Avoidance:
  • Aspirin and NSAIDs
  • Provide documentation for emergency situations
  1. Family counseling:
  • Autosomal dominant inheritance
  • Offer testing to family members

Teaching Points

  1. von Willebrand disease is the most common inherited bleeding disorder (~1% prevalence)
  2. vWF has dual function: platelet adhesion AND factor VIII carrier protein
  3. Type 1 (70-80% of cases) is partial quantitative deficiency with proportional reduction
  4. Mucocutaneous bleeding pattern reflects the primary hemostatic role of vWF
  5. DDAVP releases endothelial stores and is effective for type 1 and most type 2 variants
  6. DDAVP is contraindicated in type 2B (may worsen thrombocytopenia)
  7. Type O blood is associated with lower baseline vWF levels
  8. Testing should be performed when patient is not stressed, inflamed, or pregnant

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