ICD-10: Q79.63

Vascular Ehlers-Danlos syndrome (vEDS), classified under ICD-10 code Q79.63, is a genetic connective tissue disorder characterized by a range of clinical presentations, signs, symptoms, and patient characteristics. Here’s a detailed overview:

Clinical Presentation

• Vascular Complications: Patients often experience arterial rupture, which can lead to life-threatening hemorrhages. This is a hallmark of vEDS and can occur spontaneously or with minimal trauma.
• Organ Rupture: There is a risk of rupture of hollow organs, such as the intestines and uterus, which can also be life-threatening.
• Skin Characteristics: The skin may appear thin, translucent, and fragile, with easy bruising. Patients may also have visible veins due to the thinness of the skin.

Signs and Symptoms

• Joint Hypermobility: While not as pronounced as in other forms of Ehlers-Danlos syndrome, some patients may exhibit joint hypermobility, leading to joint pain and instability.
• Chronic Pain: Many individuals report chronic pain, particularly in the joints and soft tissues.
• Fatigue: Patients often experience significant fatigue, which can impact daily activities.
• Postural Symptoms: Issues such as orthostatic intolerance (difficulty standing up) may be present due to vascular instability.
• Poor Fine Motor Skills: Some patients may struggle with tasks requiring fine motor coordination due to joint instability and pain.

Patient Characteristics

• Genetic Background: vEDS is typically inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene can cause the disorder. Genetic testing can confirm the diagnosis.
• Age of Onset: Symptoms can manifest at any age, but vascular complications often occur in young adulthood.
• Family History: A family history of similar symptoms or known genetic mutations associated with vEDS is common among patients.

Additional Considerations

• Diagnosis: Diagnosis may involve clinical evaluation, family history assessment, and genetic testing to identify mutations in the COL3A1 gene, which is commonly associated with vEDS.
• Management: There is no cure for vEDS, but management focuses on preventing complications, monitoring for vascular issues, and providing supportive care for symptoms.

Understanding these aspects of Vascular Ehlers-Danlos syndrome is crucial for early diagnosis and management, which can significantly improve patient outcomes and quality of life.

The ICD-10 code Q79.63 corresponds to Vascular Ehlers-Danlos syndrome, which is part of a broader classification of Ehlers-Danlos syndromes. Here are some alternative names and related terms associated with this condition:

• Ehlers-Danlos syndrome, vascular type: This is a more descriptive term that highlights the vascular aspects of the syndrome.
• Vascular type Ehlers-Danlos syndrome: Another way to refer to the same condition, emphasizing its vascular characteristics.
• Ehlers-Danlos syndrome, type IV: This term is often used in clinical settings to specify the vascular type as the fourth type in the classification of Ehlers-Danlos syndromes.

Additionally, the broader category of Ehlers-Danlos syndromes includes other types, which are often referenced in relation to Q79.63:

• Q79.60: Ehlers-Danlos syndrome, unspecified
• Q79.61: Classical Ehlers-Danlos syndrome
• Q79.62: Hypermobile Ehlers-Danlos syndrome

These related codes indicate the various forms of Ehlers-Danlos syndrome, which share some clinical features but differ in their specific manifestations and genetic underpinnings [1][2][3][4][7].

The diagnosis of Vascular Ehlers-Danlos syndrome (vEDS), represented by the ICD-10 code Q79.63, typically involves a combination of clinical criteria and genetic testing. Here are the key criteria and considerations used for diagnosis:

• Clinical Features: Patients often present with characteristic symptoms such as:
• Arterial rupture or dissection
• Easy bruising
• Thin, translucent skin
• Joint hypermobility

• Family history of similar symptoms or confirmed vEDS cases

• Genetic Testing: Confirmation of the diagnosis can be achieved through genetic testing, which identifies mutations in the COL3A1 gene, commonly associated with vEDS. This genetic component is crucial, especially in cases where clinical features are not definitive.

• Diagnostic Criteria: The diagnostic criteria may include:

• A combination of major and minor criteria, where major criteria could involve significant vascular complications, and minor criteria might include skin and joint manifestations.

• Assessment of family history to establish a hereditary pattern.

• Exclusion of Other Conditions: It is important to rule out other types of Ehlers-Danlos syndromes and connective tissue disorders that may present with similar symptoms.

These criteria help healthcare providers accurately diagnose vEDS, ensuring appropriate management and treatment for affected individuals. The ICD-10 code Q79.63 is specifically designated for this condition, reflecting its classification under congenital malformations and deformations [1][4][15].