Severe Prekallikrein Deficiency Associated with Low Level of Factor XII: A Case Report
- PMID: 34306130
- PMCID: PMC8298060
- DOI: 10.30699/IJP.2020.131638.2463
Severe Prekallikrein Deficiency Associated with Low Level of Factor XII: A Case Report
Abstract
Hereditary deficiency of plasma prekallikrein (PPK) is a rare autosomal recessive disease. The affected patients are often asymptomatic and diagnosed incidentally during preoperative investigations or during hospitalization by isolated prolongation of activated partial thromboplastin time (aPTT). In this article, we report, a 46-year-old woman who was candidate for two invasive procedures (thyroid FNA and hysterectomy) and underwent preoperative evaluation. Due to prolonged aPTT with normal PT she was referred to the IBTO reference coagulation laboratory for specific coagulation assays. Ultimately, the examinations revealed severe PPK deficiency (<1%) with partial deficiency of factor XII level (25%).
Keywords: Factor XII deficiency; Prekallikrein deficiency; Prolonged aPTT.
Conflict of interest statement
The authors declared that there is no conflict of interest regarding the publication of this article.
References
-
- Criel M, Declau F, Schuermans C, Ver Elst K, Vermeiren S, Weekx S, et al. Prekallikrein deficiency in a 15-year-old boy with Meniere's disease: a case report. Acta Clin Belgica. 2017;72(4):274–7. - PubMed
-
- Elbers LPB, Fliers E, Cannegieter SC. The influence of thyroid function on the coagulation system and its clinical consequences. Journal of thrombosis and haemostasis: J Thromb Haemost. 2018;16(4):634–45. - PubMed
-
- Girolami A, Scarparo P, Candeo N, Lombardi AM. Congenital prekallikrein deficiency. Exp Rev Hematol. 2010;3(6):685–95. - PubMed
-
- Girolami A, Rolland C, Sexton D, Vardi M, Bernstein JA. Long-term safety outcomes of prekillikrein (Fletcher factor) deficiency: A systematic literature review of case reports. Allergy and Asthma Proceedings. 2019 - PubMed
Publication types
LinkOut - more resources
Full Text Sources