Arterial tortuosity syndrome

Arterial Tortuosity Syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Arterial tortuosity, joint hypermobility, skin laxity, inguinal hernia
Complications	Aneurysm, stenosis
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the SLC2A10 gene
Risks	Family history
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	N/A
Prevention	N/A
Treatment	Surgical intervention, symptomatic management
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Arterial Tortuosity Syndrome (ATS) is a rare genetic disorder characterized by the elongation and tortuosity of the arteries. This condition is associated with mutations in the SLC2A10 gene, which encodes the GLUT10 protein, a member of the glucose transporter family.

Signs and Symptoms

Individuals with Arterial Tortuosity Syndrome often present with a variety of symptoms, including:

• Arterial tortuosity
• Joint hypermobility
• Skin laxity
• Inguinal hernia

Complications can include the development of aneurysms and stenosis in affected arteries, which can lead to serious cardiovascular issues.

Genetics

Arterial Tortuosity Syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated SLC2A10 gene, one from each parent, to be affected by the condition. Carriers, who have only one copy of the mutation, typically do not show symptoms.

Diagnosis

Diagnosis of ATS is based on clinical evaluation and confirmed through genetic testing. The presence of characteristic symptoms, along with a family history of the condition, can prompt genetic testing for mutations in the SLC2A10 gene.

Treatment

There is no cure for Arterial Tortuosity Syndrome, but treatment focuses on managing symptoms and preventing complications. This may include:

• Surgical intervention to correct arterial abnormalities
• Symptomatic management for joint and skin issues

See Also

• Connective tissue disorder
• Ehlers-Danlos syndrome
• Marfan syndrome

External Links

• [Genetic and Rare Diseases Information Center - Arterial Tortuosity Syndrome](https://rarediseases.info.nih.gov/diseases/107/arterial-tortuosity-syndrome)
• [OMIM Entry - #208050 - ARTERIAL TORTUOSITY SYNDROME](https://www.omim.org/entry/208050)