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This is a clinician-written, evidence-based summary aligned to the USMLE Step 2 CK Content Outline. It is intended for medical students preparing for USMLE Step 2 CK. Management reflects current ACC/AHA, USPSTF, and APA guidelines. Always cross-reference with UpToDate, institutional protocols, and clinical judgment.
The Bottom Line
- Von Willebrand disease is the most common inherited bleeding disorder
- Bleeding is mucocutaneous: epistaxis, easy bruising, heavy menstrual bleeding, dental/surgical bleeding
- Labs may show normal platelet count, normal PT, and normal or mildly prolonged aPTT
- Diagnosis uses vWF antigen, vWF activity, and factor VIII activity
- Desmopressin treats many type 1 cases; vWF-containing factor concentrate is used for severe disease or major bleeding/procedures
Overview
Von Willebrand factor mediates platelet adhesion to subendothelium and carries factor VIII. Deficiency or dysfunction therefore produces a platelet-type mucosal bleeding phenotype and sometimes a factor VIII-type prolonged aPTT. Type 1 is partial quantitative deficiency and most common. Type 2 is qualitative dysfunction. Type 3 is severe near-complete deficiency and can resemble hemophilia with deep bleeding.
Epidemiology
vWD affects up to 1% of the population by laboratory criteria, though clinically significant disease is less common. It is usually autosomal dominant in types 1 and most type 2 variants; type 3 is autosomal recessive. Heavy menstrual bleeding is a common presenting feature.
Clinical Features
Symptoms
Recurrent epistaxis, easy bruising, gum bleeding
Heavy menstrual bleeding or postpartum hemorrhage
Excessive bleeding after dental extraction, tonsillectomy, or surgery
Deep muscle or joint bleeding suggests severe type 3 vWD or hemophilia
Signs
Mucosal bleeding, petechiae, ecchymoses
Usually no splenomegaly or systemic illness
Hemarthrosis is uncommon except severe type 3 disease
Investigations
First-line
CBC and platelet countPlatelet count usually normal; anemia may reflect chronic blood loss
PT and aPTTPT normal; aPTT normal or mildly prolonged if factor VIII is low
vWF antigen, vWF activity, factor VIII activityCore diagnostic panel; repeat testing may be needed because vWF is stress and estrogen responsive
Second-line
vWF multimer analysisClassifies type 2 variants and severe disease
Blood type assessmentType O blood has lower baseline vWF levels and can complicate interpretation
Iron studiesHeavy menstrual bleeding may cause iron deficiency
Specialist
Desmopressin trialAssesses response before planned use, especially for procedures
Genetic testingSelected severe, type 2, type 3, or family counseling cases
1
Minor bleeding and procedures
- Local hemostatic measures and antifibrinolytics such as tranexamic acid for mucosal bleeding
- Desmopressin for responsive type 1 vWD and selected type 2 variants
- Avoid aspirin and NSAIDs when possible
2
Major bleeding or high-risk surgery
- vWF-containing factor concentrates for severe disease, type 3, nonresponse to desmopressin, or major surgery
- Monitor vWF and factor VIII activity for major procedures
- Use tranexamic acid as adjunct for mucosal bleeding unless contraindicated
3
Heavy menstrual bleeding
- Hormonal therapy, levonorgestrel IUD, tranexamic acid, or desmopressin depending on patient factors
- Treat iron deficiency and coordinate hematology/gynecology care
Complications
- Iron deficiency anemia: From heavy menstrual or mucosal bleeding
- Surgical hemorrhage: Especially when diagnosis is unrecognized
- Postpartum hemorrhage: vWF levels fall after delivery
- Hyponatremia: Desmopressin can cause water retention
USMLE Step 2 CK Exam Tips
- 1Mucosal bleeding + normal platelet count + normal PT = think vWD
- 2vWD can prolong aPTT because vWF stabilizes factor VIII
- 3Most common inherited bleeding disorder = von Willebrand disease
- 4Desmopressin releases endothelial vWF and factor VIII; useful in many type 1 patients
- 5Type 3 vWD can look like hemophilia with deep bleeding
- 6Heavy menstrual bleeding since menarche is a classic clue
practicetest your knowledge on von willebrand diseaseApply what you've learnt with USMLE Step 2 CK-style questions from the iatroX Q-Bank — hematology & oncology and beyond.
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