Von Willebrand disease

Von Willebrand disease (Von Willebrand disease)

1) Disease Description (Causes and Symptoms)

• Causes and pathophysiology
  • Von Willebrand disease is an inherited bleeding disorder caused by a deficiency or dysfunction of von Willebrand factor (vWF), a protein important for blood coagulation. vWF is involved in platelet adhesion and stabilization of coagulation factor VIII. It is classified into types I, II (with subtypes), and III according to the genetic type.
• Main symptoms
  • Petechial bleeding (skin and mucous membranes), bleeding gums, nosebleeds, heavy menstrual bleeding (menorrhagia), excessive bleeding after surgery or dental treatment, and gastrointestinal bleeding in some cases. Massive intra-articular bleeding is rare.
• Characteristic clinical findings
  • The severity of symptoms varies between individuals and even within the same family. Bleeding tends to decrease during pregnancy or estrogen treatment, but the risk of bleeding may increase immediately after childbirth and at other times.

2) Treatment Methods and Precautions

• General principles
  • Treatment is determined according to the bleeding risk (mild to severe), type (I/II/III), and response to previous treatment.
• Medications and procedures
  • Desmopressin (DDAVP): Mainly used in patients with type I to temporarily increase vWF and VIII and control bleeding. (Restriction: According to RAG information, it is not used in types IIa and IIb.)
  • vWF concentrates (intravenous injection): Used when desmopressin is insufficient, or for type III, severe bleeding, and prophylaxis before surgery.
  • Antifibrinolytic agents (e.g., tranexamic acid): Widely used as adjunctive treatment for mucosal bleeding, including oral, periodontal, and uterine bleeding.
  • Hormone therapy (oral contraceptives, progestins, etc.): Used to manage heavy menstrual bleeding.
  • Blood transfusion and platelet therapy: Considered in specific situations.
• Lifestyle management and preventive precautions
  • Avoid platelet function inhibitors such as aspirin and NSAIDs, as they can worsen bleeding.
  • Before dental treatment or surgery, be sure to consult a hematologist or thrombosis and hemostasis specialist in advance and establish a preventive treatment plan.
  • Consult a specialist when planning pregnancy or childbirth (bleeding management is needed immediately after childbirth).
• Medication-related precautions
  • Desmopressin: Risk of hyponatremia (especially with repeated administration) — fluid intake restriction and electrolyte monitoring are necessary.
  • Tranexamic acid: Use caution in patients with a history of thrombosis.
  • vWF concentrates: Rare complications may occur (use products with minimized infection risk); antibodies may rarely develop, particularly in type III.

3) Outpatient Visit Checkpoints (Including Preparation Items and Example Questions)

• Recommended items to bring
  • A list of current medications (including prescription drugs, over-the-counter medicines, and supplements)
  • Records of bleeding during previous surgeries or dental procedures
  • Previous test results (particularly vWF:Ag, vWF:RCo, factor VIII activity, multimer analysis, etc.)
  • Family history (records of bleeding tendencies)
  • Menstrual history (for women): amount, duration, and frequency of bleeding; contraceptive or hormone treatment status
  • Photos or a diary of any recent bleeding episodes (frequency and pattern of bleeding)
• Information to provide to the doctor during the outpatient visit
  • Specific circumstances of recent bleeding episodes (activities, triggers, and duration)
  • Effectiveness and side effects of previous treatments (desmopressin, vWF products, etc.)

4) Examples of General Questions to Ask the Doctor

• What are the possible side effects and precautions for this medication (desmopressin/tranexamic acid/hormone therapy)?
• What type of disease (I/II/III) do I have, and what is the prognosis?
• What preparation is needed and how will I be managed for surgery, dental treatment, pregnancy, or childbirth?
• Are there any medications or activities I should avoid in daily life?

5) Examples of Disease-Specific Questions

• Based on my von Willebrand factor test results (vWF:Ag, vWF:RCo, VIII level, etc.), can you determine whether desmopressin is likely to be effective?
• For managing heavy menstrual bleeding, which is more appropriate: medication therapy (tranexamic acid/hormones) or surgical and nonsurgical options?

Note: An accurate diagnosis and treatment plan are determined based on an evaluation by a coagulation specialist, including the clinical history, blood tests, and genetic testing when necessary.