Rare Coagulation Disorders: A Retrospective Analysis of 156 Patients in

Abstract

Objective: To retrospectively evaluate the clinical findings, laboratory data, management, and outcome in a group of Turkish children diagnosed with rare coagulation deficiencies (RCDs) between January 1999 and June 2009.

Material and Methods: The Turkish Society of Pediatric Hematology-Hemophilia-Thrombosis-Hemostasis subcommittee designed a Microsoft Excel-based questionnaire for standardized data collection and sent it to participating institutions.

Results: In total, 156 patients from 12 pediatric referral centers were included in the study. The cost common RCDs were as follows: FVII (n = 53 [34%]), FY (n = 24 [15.4%]), and FX (n = 23 [14.7%]) deficiency The most common initial finding in the patients was epistaxis, followed by ecchymosis, and gingival bleeding.

Conclusion: Initial symptoms were mucosal bleeding, and fresh frozen plasma (FFP) and tranexamic acid were the most commonly used treatments. We think that prophylactic treatment used for hemophilia patients should be considered as an initial therapeutic option for patients with rare factor deficiencies and a severe clinical course, and for those with a factor deficiency that can lead to severe bleeding.