Severe Prekallikrein Deficiency Associated with Low Level of Factor XII: A Case Report

Massoumeh Shahbazi,Minoo Ahmadinejad,Shahnaz Fakhrzadegan

doi:10.30699/ijp.2021.131638.2463

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%).

Highlights

Prekallikrein deficiency was first described in 1965 by Hathaway et al in a large Kentucky family
The patient was considered as severe prekallikrein deficiency concomitant with partial deficiency of factor FXII
The plasma prekallikrein (PPK) test was done by Technocolone PK reagent and all of the Lupus Anticoagulant (LA) panel tests were done by STAGO reagents and STAR Max Autoanalyzer (STAGO France)

Summary

Introduction

Prekallikrein deficiency was first described in 1965 by Hathaway et al in a large Kentucky family. The PPK deficiency is a rare hereditary disorder that causes an isolated marked prolongation of aPTT but is not associated with bleeding tendency. Few cases of PPK deficiency have experienced some venous or arterial thrombosis or excessive bleedings after surgery, it is not clear whether these symptoms are related to PPK deficiency or not, because other known related risk factors have been detected in the affected patients. Various diseases have been described in the patients with PPK deficiency as comorbidities including cardiovascular disease, hypertension, thrombosis, stroke, hemorrhage, and systemic lupus erythematous; but it is difficult to confirm their association [4, 5]

Results

Discussion

Conclusion