ICD-10: D68.022

Von Willebrand disease (VWD) is a genetic bleeding disorder characterized by a deficiency or dysfunction of von Willebrand factor (VWF), a protein crucial for blood clotting. The ICD-10 code D68.022 specifically refers to Von Willebrand disease, type 2M, which is one of the subtypes of VWD.

Clinical Description of Von Willebrand Disease, Type 2M

Overview of Von Willebrand Disease

Von Willebrand disease is classified into three main types:
- Type 1: Mild deficiency of VWF.
- Type 2: Qualitative defects of VWF, further divided into subtypes (2A, 2B, 2M, and 2N).
- Type 3: Severe deficiency of VWF.

Type 2M is characterized by a moderate reduction in VWF levels and a specific defect in the ability of VWF to bind to platelets, which is essential for normal clot formation. This subtype is less common than others and is often associated with a milder bleeding tendency compared to Type 2A or Type 2B.

Pathophysiology

In Type 2M VWD, the von Willebrand factor is present but has a reduced ability to mediate platelet adhesion due to a defect in its structure. This results in impaired platelet aggregation, particularly under high shear stress conditions, which can occur in small blood vessels. The defect is often due to mutations in the VWF gene, leading to abnormal protein function.

Clinical Features

Patients with Type 2M VWD may present with:
- Bleeding Symptoms: Common symptoms include easy bruising, prolonged bleeding from cuts, heavy menstrual bleeding (menorrhagia), and spontaneous nosebleeds (epistaxis).
- Family History: Since VWD is inherited in an autosomal dominant pattern, a family history of bleeding disorders may be present.
- Laboratory Findings: Diagnosis typically involves laboratory tests that assess VWF levels, factor VIII levels, and platelet function tests. Patients may show normal VWF antigen levels but reduced activity in platelet aggregation tests.

Diagnosis

The diagnosis of Von Willebrand disease, particularly Type 2M, involves:
- Clinical Evaluation: A thorough history and physical examination to assess bleeding tendencies.
- Laboratory Tests: Specific tests include:
- VWF antigen levels
- VWF activity (ristocetin cofactor activity)
- Factor VIII levels
- Platelet function assays

Management

Management of Type 2M VWD focuses on controlling bleeding episodes and may include:
- Desmopressin (DDAVP): This medication can stimulate the release of VWF from endothelial cells, increasing its levels in the bloodstream.
- Replacement Therapy: In more severe cases, patients may require infusions of VWF-containing factor concentrates.
- Avoidance of Certain Medications: Patients are advised to avoid medications that can exacerbate bleeding, such as aspirin and non-steroidal anti-inflammatory drugs (NSAIDs).

Conclusion

Von Willebrand disease, type 2M (ICD-10 code D68.022), is a specific subtype of VWD characterized by a qualitative defect in von Willebrand factor leading to bleeding tendencies. Understanding its clinical features, diagnostic criteria, and management strategies is essential for effective treatment and patient care. Regular follow-up and education about bleeding risks are crucial for individuals diagnosed with this condition.

Von Willebrand Disease (VWD) is a hereditary bleeding disorder characterized by a deficiency or dysfunction of von Willebrand factor (VWF), a protein crucial for blood clotting. Type 2M is one of the subtypes of VWD, specifically associated with a qualitative defect in VWF. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with ICD-10 code D68.022, which pertains to Von Willebrand disease, type 2M.

Clinical Presentation

Overview of Type 2M

Type 2M VWD is characterized by a moderate deficiency of von Willebrand factor, which leads to impaired platelet function. This subtype is less common than other types and is often inherited in an autosomal dominant manner. Patients with type 2M typically present with bleeding symptoms that can vary in severity.

Signs and Symptoms

Patients with type 2M VWD may exhibit a range of signs and symptoms, including:

• Mucosal Bleeding: This is the most common symptom and can include:
• Frequent nosebleeds (epistaxis)
• Heavy menstrual bleeding (menorrhagia)
• Prolonged bleeding after dental procedures or surgery

• Gastrointestinal bleeding, which may manifest as blood in stool or vomit

• Skin Manifestations: Patients may develop:

• Easy bruising (ecchymosis)

• Petechiae, which are small red or purple spots on the skin caused by bleeding

• Joint Bleeding: Although less common in type 2M compared to other bleeding disorders, some patients may experience bleeding into joints (hemarthrosis), leading to pain and swelling.

• Post-Surgical Complications: Individuals may experience excessive bleeding during or after surgical procedures, which can complicate recovery.

Patient Characteristics

The characteristics of patients with type 2M VWD can include:

• Family History: A positive family history of bleeding disorders is often present, as type 2M is inherited. Family members may also exhibit similar bleeding tendencies.

• Age of Onset: Symptoms can manifest at any age, but many patients report bleeding issues during childhood or adolescence, particularly during puberty when menstrual cycles begin.

• Gender: Both males and females can be affected, but females may experience more pronounced symptoms due to menstrual bleeding.

• Comorbid Conditions: Patients may have other bleeding disorders or conditions that can complicate the diagnosis and management of VWD.

Diagnosis and Management

Diagnosis of type 2M VWD typically involves a combination of clinical evaluation, family history assessment, and laboratory tests to measure VWF levels and function. Key tests include:

• VWF Antigen Test: Measures the amount of von Willebrand factor in the blood.
• VWF Activity Test: Assesses the functional ability of VWF to support platelet adhesion.
• Factor VIII Levels: Since VWF stabilizes factor VIII, levels may also be evaluated.

Management strategies may include:

• Desmopressin (DDAVP): This medication can stimulate the release of VWF from endothelial cells, improving clotting in some patients.
• Replacement Therapy: In cases of severe bleeding or surgical procedures, VWF concentrates may be administered.
• Avoidance of Certain Medications: Patients are often advised to avoid medications that can exacerbate bleeding, such as aspirin and non-steroidal anti-inflammatory drugs (NSAIDs).

Conclusion

Von Willebrand disease, type 2M (ICD-10 code D68.022) presents with a variety of bleeding symptoms primarily due to a qualitative defect in von Willebrand factor. Understanding the clinical presentation, signs, symptoms, and patient characteristics is crucial for timely diagnosis and effective management. Early recognition and appropriate treatment can significantly improve the quality of life for affected individuals.

Von Willebrand disease (VWD) is a genetic bleeding disorder characterized by a deficiency or dysfunction of von Willebrand factor, which is crucial for blood clotting. The ICD-10-CM code D68.022 specifically refers to Von Willebrand disease, type 2M. This type is one of several subtypes of VWD, each with distinct characteristics and clinical implications.

Alternative Names for Von Willebrand Disease, Type 2M

1. Type 2M Von Willebrand Disease: This is the most direct alternative name, emphasizing its classification within the broader category of VWD.
2. VWD Type 2M: A shorthand version commonly used in clinical settings.
3. Von Willebrand Factor Deficiency, Type 2M: This name highlights the underlying issue of von Willebrand factor deficiency.
4. Hereditary Bleeding Disorder Type 2M: A broader term that encompasses the genetic nature of the condition.

Related Terms and Synonyms

• Von Willebrand Disease: A general term that includes all types of VWD, including type 1, type 2 (subtypes A, B, M, and N), and type 3.
• Bleeding Diathesis: A term used to describe a tendency to bleed easily, which is a hallmark of VWD.
• Coagulation Disorder: A broader category that includes various conditions affecting blood clotting, including VWD.
• Factor VIII Deficiency: While not synonymous, this term is related because von Willebrand factor is essential for the stability of factor VIII, and deficiencies can lead to similar bleeding symptoms.
• Platelet Dysfunction: This term can be associated with type 2M, as it often involves issues with platelet function due to von Willebrand factor abnormalities.

Clinical Context

Understanding the alternative names and related terms for D68.022 is essential for healthcare professionals involved in diagnosis, treatment, and coding for this condition. Accurate terminology ensures effective communication among medical teams and aids in the proper management of patients with von Willebrand disease.

In summary, the ICD-10 code D68.022 for Von Willebrand disease, type 2M, is associated with various alternative names and related terms that reflect its clinical significance and the underlying pathophysiology. Recognizing these terms can enhance clarity in medical documentation and patient care.

Von Willebrand disease (VWD) is a genetic bleeding disorder characterized by a deficiency or dysfunction of von Willebrand factor (VWF), which is crucial for blood clotting. Type 2M is one of the subtypes of VWD, specifically associated with a qualitative defect in VWF. The diagnosis of VWD, including type 2M, involves a combination of clinical evaluation, laboratory tests, and genetic analysis. Below are the criteria typically used for diagnosing VWD type 2M, which corresponds to the ICD-10 code D68.022.

Clinical Criteria

1. Bleeding History:
   - Patients often present with a history of mucosal bleeding, such as frequent nosebleeds, heavy menstrual bleeding (menorrhagia), and easy bruising.
   - A family history of bleeding disorders may also be significant, as VWD is inherited in an autosomal dominant pattern.

2. Physical Examination:
   - A thorough physical examination may reveal signs of bleeding, such as petechiae (small red or purple spots on the body) or ecchymosis (bruising).

Laboratory Tests

1. Von Willebrand Factor Antigen (VWF:Ag):
   - This test measures the quantity of VWF in the blood. In type 2M, levels may be normal or slightly decreased, but the function of the VWF is impaired.

2. Ristocetin Cofactor Activity (VWF:RCo):
   - This assay evaluates the functional activity of VWF. In type 2M, the VWF:RCo levels are typically low, indicating a defect in the ability of VWF to mediate platelet adhesion.

3. Factor VIII Activity:
   - Since VWF stabilizes factor VIII, a low level of factor VIII can also be indicative of VWD. In type 2M, factor VIII levels may be normal or mildly decreased.

4. Platelet Function Tests:
   - Additional tests may be performed to assess platelet function, particularly in response to ristocetin, which can help differentiate between VWD types.

5. Genetic Testing:
   - Genetic analysis may be conducted to identify mutations in the VWF gene, confirming the diagnosis of type 2M. This is particularly useful in cases where the laboratory tests are inconclusive.

Differential Diagnosis

It is essential to differentiate VWD from other bleeding disorders, such as hemophilia or platelet function disorders. This may involve additional tests, including platelet counts and other coagulation factor assays.

Conclusion

The diagnosis of Von Willebrand disease type 2M (ICD-10 code D68.022) relies on a combination of clinical assessment and specific laboratory tests that evaluate both the quantity and functionality of von Willebrand factor. A comprehensive approach, including family history and genetic testing, is crucial for accurate diagnosis and management of this bleeding disorder. If you suspect VWD, it is advisable to consult a hematologist for further evaluation and testing.

Von Willebrand disease (VWD) is a genetic bleeding disorder characterized by a deficiency or dysfunction of von Willebrand factor (VWF), which is crucial for blood clotting. Type 2M is one of the subtypes of VWD, where the von Willebrand factor is present but has a reduced ability to bind to platelets, leading to bleeding tendencies. The management of VWD, particularly type 2M, involves several standard treatment approaches aimed at controlling bleeding episodes and preventing complications.

Standard Treatment Approaches for Von Willebrand Disease Type 2M

1. Desmopressin (DDAVP)

Desmopressin is often the first-line treatment for patients with type 2M VWD. It works by stimulating the release of von Willebrand factor from endothelial cells, thereby increasing the levels of VWF in circulation. This can help improve platelet function and reduce bleeding episodes. Desmopressin is typically administered intravenously or intranasally, depending on the severity of the condition and the specific clinical scenario[1][2].

2. Factor Replacement Therapy

In cases where desmopressin is ineffective or in patients who do not respond adequately, factor replacement therapy may be necessary. This involves administering clotting factor concentrates that contain von Willebrand factor and factor VIII. Products such as Humate-P and Vonvendi are commonly used for this purpose. These concentrates help to restore the levels of VWF and factor VIII, thus improving hemostasis[1][3].

3. Antifibrinolytic Agents

Antifibrinolytic medications, such as tranexamic acid, may be used as adjunctive therapy to help stabilize clots and reduce bleeding. These agents work by inhibiting the breakdown of fibrin, which is essential for clot stability. They are particularly useful in situations where bleeding is anticipated, such as during surgical procedures or dental work[2][4].

4. Avoidance of Certain Medications

Patients with VWD type 2M should avoid medications that can exacerbate bleeding, such as non-steroidal anti-inflammatory drugs (NSAIDs) and aspirin. These medications can impair platelet function and increase the risk of bleeding. Instead, acetaminophen is often recommended for pain relief[3][5].

5. Monitoring and Education

Regular monitoring of VWF levels and factor VIII activity is essential for managing VWD effectively. Patients should be educated about their condition, including recognizing signs of bleeding and understanding when to seek medical attention. This education is crucial for empowering patients to manage their condition proactively[2][4].

6. Surgical Considerations

For patients requiring surgery, careful planning is necessary. Preoperative assessment of VWF levels and factor VIII activity should be conducted, and appropriate factor replacement therapy should be administered to minimize bleeding risks during and after the procedure[1][3].

Conclusion

The management of Von Willebrand disease type 2M involves a combination of desmopressin, factor replacement therapy, antifibrinolytic agents, and careful monitoring. By tailoring treatment to the individual needs of patients and educating them about their condition, healthcare providers can significantly improve outcomes and quality of life for those affected by this bleeding disorder. Regular follow-up and a multidisciplinary approach are essential for optimal management and prevention of complications associated with VWD.