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Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI)

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Abstract

Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a rare disorder that is associated with extensive inflammation throughout the body due to a high interferon state. Common clinical manifestations of this disorder include chronic lung disease, digital necrosis, recurrent low-grade fevers, and inflammatory skin lesions. However, renal involvement in patients with SAVI has been sparsely documented. We describe a unique case of pediatric SAVI associated with thrombotic microangiopathy (TMA), collapsing focal segmental glomerulosclerosis, interstitial lung disease (from SAVI involvement), and chronic kidney disease. This patient had a substantial hospital course where he developed renal failure. Extensive studies were conducted to exclude all other causes, including infection and possible drug side effects. Ultimately, immunologic evaluation demonstrated normal complement studies, a low ADAMTS13, and presence of ADAMTS13 inhibitor. There was also evidence of thrombocytopenia and schistocytes on peripheral blood smear. Subsequently, the patient was diagnosed with TMA and he was treated with fresh frozen plasma. Repeat immunologic studies confirmed that the TMA had resolved. In addition to describing a novel association between TMA and SAVI, this case also illustrates the challenges associated with optimizing treatment regimens and the importance of clinical vigilance for atypical complications that may arise in patients with SAVI.

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Abbreviations

STING:

Stimulator of interferon genes

SAVI:

STING-associated vasculopathy with onset in infancy

TMA:

Thrombotic microangiopathy

PICU:

Pediatric intensive care unit

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Acknowledgments

The authors would like to acknowledge the expert anonymous reviewers of Journal of Clinical Immunology for their critical commentary, which has improved the clarity and quality of this manuscript.

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Authors and Affiliations

  1. Wayne State University School of Medicine, Detroit, MI, USA

    Mia Ma & Samia Mazumder

  2. Children’s Hospital of Michigan, Detroit, MI, USA

    Mia Ma, Samia Mazumder, Hannah Kwak, Matthew Adams & Melissa Gregory

Authors
  1. Mia Ma
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  2. Samia Mazumder
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  3. Hannah Kwak
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  4. Matthew Adams
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  5. Melissa Gregory
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Contributions

Mia Ma and Samia Mazumder conceptualized and designed the study, drafted the initial manuscript, gathered data collection, and reviewed and revised the manuscript.

Drs. Kwak and Gregory conceptualized and designed the study, drafted the initial manuscript, coordinated and supervised data collection, and reviewed and revised the manuscript.

Dr. Adams made significant contributions to the revised manuscript. He also revised the manuscript critically for important intellectual content and provided key photographs for the case report.

All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Corresponding author

Correspondence to Mia Ma.

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The authors declare that they have no conflict of interest.

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The patient’s mother has consented to the submission of the case report to the journal.

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The patient’s mother has consented to the submission of the case report to the journal.

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Ma, M., Mazumder, S., Kwak, H. et al. Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI). J Clin Immunol 40, 1111–1115 (2020). https://doi.org/10.1007/s10875-020-00850-2

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  • DOI: https://doi.org/10.1007/s10875-020-00850-2

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