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Sting-associated Vasculopathy With Onset In Infancy

Disease Details

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Description: Sting-associated vasculopathy with onset in infancy (SAVI) is a rare genetic disorder characterized by severe inflammation and vasculitis, primarily affecting the skin, lungs, and blood vessels from infancy.
Type: Sting-associated vasculopathy with onset in infancy is an autosomal dominant genetic disorder.
Signs And Symptoms: Sting-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory disease.

**Signs and Symptoms:**
1. **Skin Lesions:** Ulcerative and necrotic lesions, often exacerbated by cold exposure.
2. **Respiratory Issues:** Chronic cough, interstitial lung disease, and difficulty breathing.
3. **Systemic Inflammation:** Episodes of fever and joint pain.
4. **Growth Retardation:** Delayed physical development in severe cases.
5. **Digital Ischemia:** Poor blood flow to fingers and toes, potentially leading to tissue damage and loss.

The severity of symptoms can vary widely among individuals.
Prognosis: Sting-associated vasculopathy with onset in infancy (SAVI) is a genetic disorder characterized by severe systemic inflammation, skin lesions, and progressive interstitial lung disease. The prognosis for individuals with SAVI can be quite variable, but it is generally considered serious due to the chronic and progressive nature of the disease. Lung disease can be particularly severe and may lead to significant respiratory complications. Early diagnosis and treatment with immunosuppressive therapies, such as Janus kinase (JAK) inhibitors, can help manage symptoms and potentially improve outcomes. However, there is no cure, and ongoing medical management is typically required.
Onset: Sting-associated vasculopathy with onset in infancy (SAVI) typically presents with symptoms soon after birth or in early infancy.
Prevalence: The prevalence of Sting-associated vasculopathy with onset in infancy (SAVI) is very rare. Definitive numbers are not available due to the rarity of the condition, but it is recognized as an uncommon genetic disorder.
Epidemiology: Sting-associated vasculopathy with onset in infancy (SAVI) is an extremely rare autoinflammatory disorder that primarily affects young children. It is caused by mutations in the TMEM173 gene, which encodes the protein STING (stimulator of interferon genes). SAVI leads to abnormal activation of the immune system, resulting in severe inflammation and damage to blood vessels.

Epidemiology:
1. **Prevalence**: Due to its rarity and recent recognition, precise prevalence is not well-established but is considered very low.
2. **Age of Onset**: Symptoms typically begin in infancy.
3. **Geographical Distribution**: Cases have been reported worldwide, but due to its rarity, data is limited.
4. **Gender**: No clear gender predilection has been established.
5. **Genetics**: It is inherited in an autosomal dominant pattern, although many cases result from de novo mutations (i.e., new mutations occurring in the affected individual that were not inherited from either parent).

SAVI manifests with severe systemic inflammation, primarily affecting the skin, lungs, and blood vessels, and often requires aggressive immunosuppressive therapy to manage symptoms.
Intractability: Sting-associated vasculopathy with onset in infancy (SAVI) is considered challenging to treat. It is a rare autoinflammatory disease caused by specific mutations in the TMEM173 gene. The condition often leads to severe skin lesions, recurrent fevers, and potentially serious lung involvement. Some treatments, including JAK inhibitors and other immunomodulatory therapies, have shown promise, but managing the disease remains complex and typically requires specialized medical care.
Disease Severity: Sting-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory disorder caused by mutations in the TMEM173 gene. The disease severity can be significant and typically manifests with severe, early-onset systemic inflammation, skin lesions, recurrent fevers, and progressive pulmonary disease leading to interstitial lung disease. Without appropriate intervention, the disease can be life-threatening due to progressive lung damage and other systemic complications.
Healthcare Professionals: Disease Ontology ID - DOID:0111457
Pathophysiology: Sting-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory disease caused by mutations in the TMEM173 gene. This gene encodes the STING (Stimulator of Interferon Genes) protein, which plays a crucial role in the immune response. The disease is characterized by the constitutive activation of the STING pathway, leading to excessive production of type I interferons. This hyperactivation results in chronic inflammation and damage to small blood vessels, predominantly affecting the skin, lungs, and other organs.

Clinical manifestations typically include:

- Severe skin lesions (e.g., rashes, ulcers)
- Pulmonary disease (interstitial lung disease)
- Systemic inflammation
- Failure to thrive in infancy

The exact mechanism involves a gain-of-function mutation that leads to persistent activation of the interferon pathway, exacerbating vascular and tissue inflammation. Treatments often focus on managing symptoms and attempting to modulate the immune response.
Carrier Status: Sting-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory disorder. It is caused by mutations in the TMEM173 gene, leading to overactivation of the STING protein and excessive interferon activity. This condition typically follows an autosomal dominant pattern of inheritance, meaning that having just one copy of the mutated gene can cause the disease. Carrier status isn't typically applicable in the same way it is for autosomal recessive conditions because individuals with one copy of the mutated gene usually show symptoms.
Mechanism: Sting-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory disease caused by gain-of-function mutations in the TMEM173 gene that encodes the STING (Stimulator of Interferon Genes) protein.

**Mechanism:**
STING is part of the innate immune system and acts as a key adaptor protein in the cytoplasmic DNA-sensing pathway. When activated, it triggers the production of type I interferons and other inflammatory cytokines.

**Molecular Mechanisms:**
1. **Gain-of-Function Mutations:** Mutations in the TMEM173 gene result in a STING protein that is constitutively active, i.e., it signals continuously without the presence of its usual activating ligands.
2. **Chronic Inflammation:** The aberrant activation of STING leads to persistent production of type I interferons and other pro-inflammatory cytokines, causing chronic inflammation.
3. **Endothelial Damage:** Continuous hyperactivation of the immune response results in endothelial damage, which manifests as vasculopathy. This can lead to skin lesions, recurrent respiratory infections, and systemic involvement in organs.

Understanding these mechanisms provides insight into potential therapeutic targets for modulating the overactive STING pathway in SAVI, such as using STING inhibitors or other anti-inflammatory agents.
Treatment: There is currently no standardized treatment for Sting-Associated Vasculopathy with Onset in Infancy (SAVI). Management focuses on addressing symptoms and complications, often involving immunosuppressive and anti-inflammatory medications such as corticosteroids, JAK inhibitors, and biologic agents targeting specific inflammatory pathways. The involvement of a multidisciplinary team, including rheumatologists, dermatologists, and pulmonologists, is crucial for comprehensive care.
Compassionate Use Treatment: Sting-associated vasculopathy with onset in infancy (SAVI) is a rare genetic autoinflammatory disorder caused by mutations in the TMEM173 gene, leading to activation of the STING pathway. Given the limited number of patients and the severity of the disease, treatment options often include off-label or experimental approaches. Here are some potential treatments:

1. **JAK Inhibitors**: Drugs like ruxolitinib, which inhibit the Janus kinase (JAK) pathway, have been used off-label to manage SAVI symptoms by reducing inflammation.

2. **Baricitinib**: Another JAK inhibitor that has shown promise in controlling the symptoms of SAVI in some patients.

3. **Rituximab**: An off-label use of rituximab, a monoclonal antibody against CD20, may be considered in some cases to control severe disease manifestations.

4. **TNF Inhibitors**: Agents like etanercept and infliximab that inhibit tumor necrosis factor (TNF) have been explored as off-label treatments.

5. **Emerging Therapies**: Ongoing clinical trials may provide access to novel therapies targeting the STING pathway specifically.

Patients considering these treatments typically need to be part of clinical trials or receive compassionate use approval due to the experimental nature of these interventions.
Lifestyle Recommendations: Sting-Associated Vasculopathy with Onset in Infancy (SAVI) is a rare genetic disorder. Lifestyle recommendations for managing the condition focus primarily on minimizing inflammation and preventing infections. Some key recommendations include:

1. Regular medical check-ups: Ensure consistent monitoring by healthcare professionals.
2. Avoiding exposure to cold temperatures: Cold can trigger or exacerbate symptoms.
3. Infection prevention: Practice good hygiene, avoid crowded places, and stay updated on vaccinations.
4. Inflammation management: Follow prescribed treatments rigorously, which may include medications like JAK inhibitors.
5. Nutritious diet: Maintaining a balanced diet to support overall health.
6. Stress management: Practice techniques to reduce stress, as it may impact disease severity.

These lifestyle adjustments aim to improve quality of life and manage symptoms effectively.
Medication: Sting-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory disease caused by mutations in the TMEM173 gene. There is currently no definitive cure, but treatments aim to manage symptoms. Common medications include:

1. **JAK inhibitors (e.g., tofacitinib, ruxolitinib)** - These are used to control inflammatory responses.
2. **Corticosteroids** - These can be administered to reduce inflammation.
3. **Biologic agents (e.g., TNF inhibitors, IL-1 inhibitors)** - These might be used depending on individual patient response.

Clinical management typically requires a tailored approach based on the patient's specific symptoms and disease severity.
Repurposable Drugs: For Sting-associated Vasculopathy with Onset in Infancy (SAVI), potential repurposable drugs include Janus kinase (JAK) inhibitors, such as tofacitinib and ruxolitinib. These drugs target the JAK-STAT signaling pathway, which is implicated in SAVI pathology. Early evidence suggests they may help manage the severe inflammatory symptoms associated with the condition.
Metabolites: For Sting-associated vasculopathy with onset in infancy (SAVI), there is currently no well-documented specific metabolite profile associated with this condition. SAVI is an autoinflammatory disease caused by mutations in the TMEM173 gene, which encodes the STING (Stimulator of Interferon Genes) protein. This leads to an overactive immune response characterized by increased production of type I interferons. The primary focus in SAVI is on immune dysregulation rather than metabolic abnormalities.
Nutraceuticals: Sting-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory disease. Currently, there is no established role for nutraceuticals in the treatment of SAVI. Standard treatment typically includes the use of JAK inhibitors and other immunosuppressive therapies to manage symptoms and reduce inflammation. Always consult with a healthcare professional before considering any supplements or alternative treatments.
Peptides: Sting-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory disease caused by mutations in the TMEM173 gene, which encodes the STING protein. The condition typically presents with severe systemic inflammation, vasculopathy, and damage to various tissues, leading to symptoms such as ulcerative skin lesions, respiratory complications, and vasculitis.

Peptides: In the context of SAVI, peptides or peptide-based therapies are not yet standard treatments. However, research in immunology often explores the use of peptides to modulate immune responses, which could potentially be of interest in developing future treatments.

Nan: If you are referring to nanotechnology or nanoparticles, these are being researched for their potential in targeted drug delivery and immune system modulation. Nanoparticles can be designed to deliver therapeutics directly to affected cells, potentially improving outcomes and reducing side effects, though this is still largely in the experimental stage for many conditions, including SAVI.