Living with STING-associated vasculopathy with onset in infancy
An inherited inflammation condition that starts in infancy and mainly affects the skin, blood vessels, and lungs.
Understanding STING-associated vasculopathy with onset in infancy
SAVI is an autoinflammatory disease, meaning the immune system causes too much inflammation. Signs begin in the first few months of life and mostly involve blood vessel problems. Skin on the face, ears, nose, fingers, and toes can become badly damaged, and this worsens in cold weather. People also have recurrent low-grade fevers and swollen lymph nodes. Some develop widespread lung damage.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin rashes that can turn into sores
- Purplish, net-like skin color (livedo reticularis)
- Fingers and toes that turn white or blue in the cold
- Repeated low-grade fevers
- Swollen lymph nodes
- Fast breathing and lung damage
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, genetic specialists, lung and breathing specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in STING1 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); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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
Changes in the STING1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: savi; sting-associated vasculopathy, infantile-onset
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with STING-associated vasculopathy with onset in infancy.
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