How do I know if I have Arterial Tortuosity Syndrome?

Arterial Tortuosity Syndrome is a rare connective tissue disorder characterized by the elongation and twisting of medium- and large-sized arteries, which is typically diagnosed through clinical imaging and genetic testing for mutations in the SLC2A10 gene. If you suspect you have Arterial Tortuosity Syndrome, you should seek evaluation from a vascular specialist or geneticist, particularly if you have a history of unexplained arterial abnormalities or characteristic physical features.

What are the early signs of Arterial Tortuosity Syndrome?

Individuals with Arterial Tortuosity Syndrome often present with distinct physical features alongside vascular issues. Early indicators may include:

• Characteristic facial features (e.g., micrognathia, high-arched palate, or down-slanting palpebral fissures).


• Dermatological signs such as hyperextensible skin, soft skin texture, or easy bruising.


• Skeletal abnormalities like arachnodactyly (long fingers), pectus excavatum, or joint hypermobility.


• Vascular findings discovered incidentally, such as arterial tortuosity, stenosis, or aneurysms.

How is Arterial Tortuosity Syndrome diagnosed?

Diagnosis of Arterial Tortuosity Syndrome is confirmed through a combination of imaging and molecular analysis. Because symptoms can overlap with other connective tissue disorders like Loeys-Dietz syndrome, specific testing is essential. Request that your physician order a molecular genetic test for the SLC2A10 gene. Additionally, vascular imaging—such as CT angiography or MR angiography—is the gold standard for visualizing the characteristic twisting (tortuosity) of the arteries.

When should I seek urgent medical evaluation?

If you have been diagnosed with or suspect Arterial Tortuosity Syndrome, you must seek emergency care if you experience sudden, severe chest or abdominal pain, shortness of breath, or unexplained fainting. These can be signs of an arterial dissection or rupture, which are serious complications associated with the condition.

How can I advocate for myself?

Rare diseases like Arterial Tortuosity Syndrome are often misunderstood in primary care settings. If your concerns are dismissed, bring printed, peer-reviewed literature from NIH GARD or Orphanet to your appointment. Explicitly request a referral to a specialist center that manages connective tissue disorders or vascular genetics.

Next steps

• Consult with a clinical geneticist to discuss genetic testing for SLC2A10 mutations.


• Schedule a cardiovascular evaluation with a specialist familiar with connective tissue disorders.


• Connect with the 7 other members of our DiseaseMaps.org community who are living with Arterial Tortuosity Syndrome to share experiences.

Medical Disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD)


• Orphanet: Portal for rare diseases and orphan drugs


• OMIM (Online Mendelian Inheritance in Man): Entry #208050