Ehlers-Danlos syndrome, vascular type

=Ehlers-Danlos Syndrome, Vascular Type = Ehlers-Danlos Syndrome, Vascular Type (EDS type IV), also known as Vascular Ehlers-Danlos Syndrome, is a rare genetic disorder that affects the connective tissues in the body. This condition is characterized by fragile blood vessels, thin skin, and a high risk of organ rupture. It is one of the most severe forms of Ehlers-Danlos Syndrome.

Genetics

EDS, Vascular Type is primarily caused by mutations in the COL3A1 gene, which encodes type III collagen. This type of collagen is crucial for the structural integrity of blood vessels and other tissues. The inheritance pattern is autosomal dominant, meaning a single copy of the mutated gene can cause the disorder.

Symptoms

Individuals with EDS, Vascular Type may exhibit the following symptoms:

• Thin, translucent skin that bruises easily
• Characteristic facial features such as a thin nose, thin upper lip, and small earlobes
• Fragile arteries and internal organs, leading to a risk of rupture
• Hypermobile joints, although less pronounced than in other types of EDS

Diagnosis

Diagnosis of EDS, Vascular Type is based on clinical evaluation, family history, and genetic testing to identify mutations in the COL3A1 gene. Vascular imaging may also be used to assess the condition of blood vessels.

Management

There is no cure for EDS, Vascular Type, but management focuses on preventing complications and monitoring the health of blood vessels. This may include:

• Regular cardiovascular monitoring
• Avoiding activities that increase the risk of injury or vascular rupture
• Surgical interventions when necessary, although surgery carries increased risk due to tissue fragility

Prognosis

The prognosis for individuals with EDS, Vascular Type varies. Life expectancy can be reduced due to the risk of arterial or organ rupture, but with careful management, some individuals live into middle age or beyond.

Research

Ongoing research aims to better understand the genetic and molecular basis of EDS, Vascular Type, and to develop targeted therapies. Clinical trials are exploring the use of medications to strengthen blood vessels and improve quality of life.

See Also

• Ehlers-Danlos Syndrome
• Connective Tissue Disorders
• Genetic Disorders

,

 Ehlers-Danlos syndrome: a review, 
 Annals of Internal Medicine, 
 1998, 
 Vol. 129(Issue: 8), 
 pp. 672-679,

,

 Ehlers-Danlos Syndrome: A Multidisciplinary Approach, 
  
 Springer, 
 2012,

NIH genetic and rare disease info

• NIH info on Ehlers-Danlos syndrome, vascular type

Ehlers-Danlos syndrome, vascular type is a rare disease.