What is Arterial Tortuosity Syndrome

Arterial Tortuosity Syndrome (ATS) is a rare genetic disorder that affects the connective tissues in the body, specifically the blood vessels. It is characterized by the abnormal twisting and elongation of the arteries, leading to their tortuous appearance. ATS is caused by mutations in the SLC2A10 gene, which is responsible for producing a protein called GLUT10 that helps maintain the structure and function of blood vessels.

Individuals with ATS may experience a range of symptoms, including cardiovascular abnormalities, such as aneurysms and narrowing of the arteries, which can lead to high blood pressure and heart problems. Other common features include joint hypermobility, skin abnormalities, and facial characteristics like a long face and a high-arched palate.

Diagnosis of ATS involves a thorough clinical evaluation, genetic testing, and imaging studies to assess the extent of arterial tortuosity. While there is no cure for ATS, treatment focuses on managing the symptoms and complications. This may involve regular monitoring of cardiovascular health, medication to control blood pressure, and surgical interventions if necessary.

Early detection and appropriate management are crucial in improving the quality of life for individuals with ATS. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and potential risks for future generations.