{"title":"A Rare Case of Hereditary Factor XI Deficiency Accompanied by Lupus Anticoagulant in an Adult Patient with Monoclonal Gammopathy of Undetermined Significance.","authors":"Hengwei Liu","doi":"10.2169/internalmedicine.5113-24","DOIUrl":null,"url":null,"abstract":"<p><p>Acquired coagulopathy, particularly bleeding due to factor X deficiency, is a rare but not unusual phenomenon in patients with plasma cell dyscrasias such as amyloidosis. We herein report a rare case of a Han Chinese man with recurrent scattered skin ecchymosis on the forearms due to factor XI (FXI) deficiency and lupus anticoagulant who was diagnosed with monoclonal gammopathy of undetermined significance (MGUS) and confirmed to have a heterozygous mutation p.L190P (c.T569C) in the FXI gene. To our knowledge, this is the first case report of MGUS concurrent with a FXI missense mutation and lupus anticoagulant.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0000,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Internal Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2169/internalmedicine.5113-24","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
A Rare Case of Hereditary Factor XI Deficiency Accompanied by Lupus Anticoagulant in an Adult Patient with Monoclonal Gammopathy of Undetermined Significance.
Acquired coagulopathy, particularly bleeding due to factor X deficiency, is a rare but not unusual phenomenon in patients with plasma cell dyscrasias such as amyloidosis. We herein report a rare case of a Han Chinese man with recurrent scattered skin ecchymosis on the forearms due to factor XI (FXI) deficiency and lupus anticoagulant who was diagnosed with monoclonal gammopathy of undetermined significance (MGUS) and confirmed to have a heterozygous mutation p.L190P (c.T569C) in the FXI gene. To our knowledge, this is the first case report of MGUS concurrent with a FXI missense mutation and lupus anticoagulant.
期刊介绍:
Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine.
Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.