Living with Arterial tortuosity syndrome
A rare connective tissue condition that causes twisting, narrowing, and bulging of the arteries and flexible joints.
Understanding Arterial tortuosity syndrome
Connective tissue gives strength and flexibility to blood vessels, skin, joints, and the digestive tract. Besides twisting, arteries may narrow or bulge (aneurysm). The syndrome can also cause very loose or stiff joints and soft, stretchy skin. It is noticed in infancy and childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Twisted arteries
- Bulging aorta (aortic aneurysm)
- Narrowed arteries, including lung arteries
- Very flexible joints
- Soft, stretchy skin
- Hernias
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC2A10 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with A Twist of Fate-ATS and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the SLC2A10 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ators; ats
Patient organizations
- A Twist of Fate-ATSArterial tortuosity syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Arterial tortuosity syndrome.
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