Background: • Rare bleeding disorders are a heterogeneous group of hereditary diseases characterized by a quantitative or qualitative deficiency of blood coagulation factors[1-2];
• Prevalence in the general population varying between 1 in 500 000 for FVII deficiency and 1 in 2 million for FXIII, FII deficiencies[3-4];
• In comparison with haemophilia epistaxis, umbilical cord bleeding occur more frequently, while hemarthrosis, muscle bleeding occur more rarely [1];

Aims: • Analysis of clinical manifestations in children with various rare bleeding disorders observed in our centers in outpatient consultative unit and short-term Hospital Department in 2017 – 2019.

Methods: • Retrospective analysis of medical records;
• 47 patients (0-18 y.o.) with rare bleeding disorders;
• Bleeding history was analyzed with Pediatric Bleeding Questionnaire;

Results: Analysis of bleedings:
– 40% of patients appeared asymptomatic.
– Most common bleedings: skin bleeding, epistaxis, tooth bleeding.
– High percent of joint bleeding – 7 patients.
– Most severe bleedings were seen at VKCFD, Afibrinogenemia and Factor VII deficiency

Distribution of rare bleeding disordersPBQ and activity by fibrinogen, Factor VII, Factor XI deficiencies

Conclusions: • The prevalence of one or another rare bleeding disorder is connected to ethnic characteristics of the population and is not always proportional to the expected frequency;
• More data is required to establish the local characteristics of the spread of rare bleeding disorders and to develop adequate diagnostic criteria;
References:
1. Mannucci PM, et al. Blood 2004;104:1243–1252.
2. Peyvandi F, et al. Blood Transfus. 2008;6(Suppl. 2):s45‐s48.
3. Shapiro AD, et al. Am J Prev Med. 2011;41(6 Suppl. 4):S324‐331. Kearon C, et al. Chest. 2012 ;141(2 Suppl):e419S-96S.
4. Peyvandi F, et al. J Thromb Haemost. 2012;10(4):615‐621.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/rare-bleeding-disorders-in-children-towards-establishing-a-local-registry/