Definition of the Bleeding Tendency in Factor XI-Deficient Kindreds–A Clinical and Laboratory Study

Abstract

SummaryIndividuals with severe factor XI deficiency are prone to excessive bleeding after injury or surgery, but the existence of a haemorrhagic tendency in partial factor XI deficiency is controversial. In this study, 172 members of 30 kindreds (20 non-Jewish) transmitting factor XI deficiency in North West England were interviewed and a bleeding history questionnaire completed. Blood was taken for coagulation assays. The questionnaires were categorised independently by two assessors to determine presence or absence of a bleeding tendency, in the absence of information about the factor XI level or family history. Analysis shows that 48% of heterozygotes have a bleeding tendency. Eighteen (60%) families came to attention because of bleeding problems in heterozygotes. Comparison of histories between partially deficient and non-deficient individuals demonstrated a higher incidence of menstrual problems, an increase in significant bruising, and an increased likelihood of excessive bleeding after tonsillectomy and dental extractions.The incidence of von Willebrand’s disease was not increased, but individuals with heterozygous factor XI deficiency who were bleeders tended to have lower levels of factor VIIIc and von Willebrand factor, and were more commonly of blood group 0. These features may contribute to the bleeding tendency. There was no evidence of alteration in factor VII activity (as defined by the ratio of activity to antigen) between the bleeders and non-bleeders.This is convincing evidence for abnormal bleeding in factor XI deficiency which is not confined to severely deficient patients.

High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls

“…The recorded data were processed later providing a numerical assessment of bleeding severity (bleeding score, BS). The BS was compared with the insight of the physician who estimated, interpreted and categorized the bleeding severity at the end of the interview into one of five categories of a clinical classification (CC), adapted from Bolton-Maggs et al 15 : intense, moderate, intermediate, trivial bleeders and non-bleeders. Intermediate bleeders were those with spontaneous bleeding from diverse sites, but whose hemostatic system had not yet been challenged by major risk factors for bleeding (e.g.…”

Factor XI Deficiency: A Rare Cause of Prolonged Bleeding in a Post-Operative Patient

“…Splicing is seen in general population [4]. Various studies have confirmed that bleeding can occur in heterozygotes [5][6][7]. This disorder is, therefore, not completely recessive and the variability of the bleeding tendency constitute one enigma of this deficiency.…”

Unexpected Bleeding Disorders

“…The factor XI gene is autosomal, and menorrhagia is a frequent presenting symptom in women. 43,44 The clinical expression factor XI deficiency correlates poorly with the plasma factor XI concentration, but most individuals whose levels are below 0.15 IU/ml will experience excessive bleeding after trauma or surgery. 42 Some patients with less severe deficiency (factor XI levels as high as 60-70% of normal) have a bleeding tendency.…”