Background: Inherited thrombocytopenia (IT) is a group of hereditary diseases characterized by thrombocytopenia and bleeding, which is hard to distinguish from primary ITP with similar manifestations and response to treatment. Nevertheless, management and follow-up in life-long are different. ITs are frequently incorrectly diagnosed and thus with poor clinical prognosis and evolving into chronic and refractory ITP (C/RITP). Currently, limited data about the detection rate of ITs in Chinese children C/RITP leads to further investigations.

Aims: To detect immune IT by high-throughput next-generation sequencing (NGS) from children with apparent C/RITP and investigate their clinical profile.

Methods: We retrospectively collected 252 children C/RITP with transient response to Intravenous Immunoglobulin (IVIG) /steroid, all of whom underwent NGS targeted for ITs from Apr 2016 to Apr 2019. Clinical data were systematically collected. We diagnosed immune ITs and suspicious ITs depending on genes, phenotype and family history and we analyzed their characteristics.

Results: Forty-nine patients without analyzable information were ruled out. Among the remaining 203 cases, 36(17.8%) was confirmed as IT and 65(32.0%) was suspicious of IT. Twenty-three (63.9%) from confirmed group and 51(76.9%) from suspicious group had immune-related mutations. In analyzing the clinical characteristics, we found more boys (82.6%) in confirmed immune IT group than in the suspected(62.7%) and negative group (53.9%), while age of onset is younger in the confirmed(5.47±3.78years) and older in the suspected(7.30±3.94years). Buchanan scores showed more patients of level-3 bleeding in the confirmed(30.4%), while more of level-2(58.8%) in the suspected and more of level-1(46.6%) in the negative.

Conclusions: In total, 35.9% of children C/RITP were found with mutations of ITs. For the confirmed cases, younger boys with more severe the degree of disease. As for the suspected cases, their onset age is older and manifests obvious immunological abnormalities and more severe disease state. In summary, early identification is essential for children ITs.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/high-throughput-sequencing-in-the-diagnosis-of-inherited-immune-thrombocytopenia-from-among-children-with-apparent-chronic-refractory-itp/