New insights on genetic variants and phenotypic features of childhood large-vessel vasculopathy: a systematic review and single-centre series
Authors' conclusion
This study demonstrates that a variety of inherited disorders may contribute to childhood LVV.
Study context
- Population
- Children with large-vessel vasculopathy (LVV) seen January 2000–September 2022 at a single institution, plus previously published casesplus 20 published cases
- Participants
- 11 children
- Comparison
- Childhood LVV with genetic variants vs sporadic childhood LVV
- Genetic variantsn = 5
- Sporadicn = 6reference
- Outcome
- Phenotype, treatment and outcomes of childhood LVV with genetic variants (single-centre series)
- Follow-up
- Last
Pooled result
As reported in the abstract
- Genetic variants treated with corticosteroids
- 5
- Required sequential immunosuppressive drugs
- 3
- Surgical intervention
- 4
- Haematopoietic stem-cell transplant (HSCT)
- 1
- Clinical remission
- 3
- Died
- 2
Further pooled results
Systematic review of published cases
- Published cases
- 20
- All had inherited disorders; genetically proven diagnosis
- 14
- HSCT
- 2
- Deaths
- 4
- Most treated with corticosteroids and immunosuppressive drugs, with partial responses
Original publication
New insights on genetic variants and phenotypic features of childhood large-vessel vasculopathy: a systematic review and single-centre series. Clin Exp Rheumatol. Published 9 March 2023. doi:10.
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