About STING-associated vasculopathy with onset in infancy

What is STING-associated vasculopathy with onset in infancy?

STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic disorder that affects the blood vessels. It is caused by mutations in the STING gene, which is responsible for producing a protein that helps regulate the body's immune response. Symptoms of SAVI include skin lesions, fever, joint pain, and organ damage. Treatment typically involves medications to reduce inflammation and improve blood flow.

What are the symptoms of STING-associated vasculopathy with onset in infancy?

The symptoms of STING-associated vasculopathy with onset in infancy (SAVI) include:

-Fever
-Rash
-Joint pain
-Lethargy
-Abdominal pain
-Vomiting
-Diarrhea
-Liver dysfunction
-Kidney dysfunction
-Growth failure
-Developmental delay
-Seizures
-Stroke-like episodes
-Skin ulcers
-Gangrene of the extremities
-Eye abnormalities
-Cardiac abnormalities

What are the causes of STING-associated vasculopathy with onset in infancy?

The exact cause of STING-associated vasculopathy with onset in infancy (SAVI) is unknown. However, it is believed to be caused by a mutation in the STING gene, which is responsible for producing a protein that helps regulate the body's immune response. Other possible causes include environmental factors, such as exposure to certain viruses or toxins, or a combination of genetic and environmental factors.

What are the treatments for STING-associated vasculopathy with onset in infancy?

The treatments for STING-associated vasculopathy with onset in infancy vary depending on the severity of the condition. Generally, treatment focuses on controlling inflammation and preventing further damage to the blood vessels. This may include medications such as corticosteroids, immunosuppressants, and biologics. In some cases, surgery may be necessary to repair damaged blood vessels. Other treatments may include physical therapy, occupational therapy, and speech therapy to help manage any physical or developmental delays.

What are the risk factors for STING-associated vasculopathy with onset in infancy?

1. Genetic mutations in the STING gene
2. Premature birth
3. Low birth weight
4. Exposure to certain medications or toxins
5. Exposure to certain infections
6. Family history of the condition

Is there a cure/medications for STING-associated vasculopathy with onset in infancy?

At this time, there is no known cure for STING-associated vasculopathy with onset in infancy. However, there are medications that can be used to manage the symptoms and reduce the risk of complications. These medications include corticosteroids, immunosuppressants, and biologic agents. Additionally, physical therapy and occupational therapy may be recommended to help improve mobility and function.