Evaluation of Clinical Features, Laboratory Findings and Treatment of Patients with Rare Factor Deficiency: A Retrospective Single Center Experience

Abstract

Objective: Patients with a rare factor deficiency (RFD) may be asymptomatic or present with life-threatening bleeding. Studies have shown no direct relationship between factor activity level and bleeding severity, with difficulties being experienced in diagnosis and clinical follow-up. This study aims to contribute to Türkiye’s data by evaluating the clinical and laboratory findings of the patients diagnosed with RFD and examined in this study. Materials and Methods: The study involves 116 patients with an RFD diagnosis who were examined between 2005-2020. The study analyzes the patients’ data retrospectively using patient files and the electronic registry system. Results: The most common type of RFD is seen to be the factors VII (76%) and XI (8.6%) deficiencies. At the time of diagnosis, 50 (43.1%) patients were symptomatic, and 66 (56.9%) were asymptomatic. The most common complaints were epistaxis (n = 18 [15.5%]) and easy bruising (n = 8 [6.9%]). Five patients (three with factor VII and two with factor XIII deficiencies) were diagnosed with intracranial hemorrhaging (ICH). Of the patients, 12 (10.4%) had symptoms during the neonatal period. This study evaluated the coagulation systems of 97 patients suing thromboelastograms (TEGs), with 67 (69%) appearing normal and 30 (31%) showing symptoms compatible with RFD. When comparing the two groups, the TEGs were shown to be effective in determining bleeding tendencies, with Fisher’s exact test showing a p < 0.001. Upon considering bleeding severity and factor level, prophylactic treatments were initiated in eight patients (7%), three of whom had a factor XIII deficiency, three with a factor X deficiency, one with a factor VII deficiency, and one with afibrinogenemia. Conclusion: Patients with RFD should be noted to be able to be asymptomatic. TEG can be used effectively as a method for determining RFD patients’ bleeding tendencies. Patients with signs of bleeding during the neonatal period can be monitored closely, and bleeding that may develop later can be prevented with early diagnosis.

Keywords

• rare factor deficiencies
• thromboelastogram
• epistaxis
• factor vii
• factor x
• factor xiii