Schött Ulf, Astermark Jan, Zdanowski Anna, Strandberg Karin
tidigare adjungerad professor, VO intensiv och perioperativ vård, Skånes universitetssjukhus Lund.
professor, överläkare, VO hematologi, onkologi och strålningsfysik, Skånes universitetssjukhus; institutionen för translationell medicin, Lunds universitet, Malmö.
Lakartidningen. 2023 Apr 26;120:23018.
Factor XIII (FXIII) cross-links fibrin monomers to strengthen clots. The congenital severe autosomal type of FXIII deficiency with <5 percent of normal FXIII activity is an extremely rare bleeding disorder with <10 cases in Sweden. It often debuts at birth with prolonged umbilical cord bleedings and an increased risk for bleeding throughout life. Patients with severe congenital FXIII deficit have an established FXIII concentrate treatment, both for prophylaxis and at bleeding episodes. Acquired autoantibodies against FXIII are also rare, with high bleeding risks. Quantitative FXIII analyses are only available in few laboratories in Sweden. Sometimes more complex antigen/antibody/gene mutation tests are needed for diagnosis, but these are not available in Sweden. Other acquired FXIII deficiencies can occur in patients with several diseases and during surgery/trauma. Their treatment and diagnostic logistics are less defined. Recent European guidelines on perioperative bleeding have suggested FXIII concentrate treatment.
凝血因子 XIII（FXIII）可交联纤维蛋白单体以强化血凝块。先天性严重常染色体类型的 FXIII 缺乏症，其 FXIII 活性低于正常水平的 5%，是一种极为罕见的出血性疾病，在瑞典病例不足 10 例。该病常于出生时首发，表现为脐带出血时间延长，且终生出血风险增加。患有严重先天性 FXIII 缺乏症的患者已确立了 FXIII 浓缩物治疗方案，用于预防和出血发作时的治疗。获得性抗 FXIII 自身抗体也很罕见，出血风险高。瑞典仅有少数实验室可进行 FXIII 定量分析。有时诊断需要更复杂的抗原/抗体/基因突变检测，但瑞典无法开展此类检测。其他获得性 FXIII 缺乏症可发生于多种疾病患者以及手术/创伤期间。其治疗和诊断流程尚不太明确。欧洲近期关于围手术期出血的指南建议采用 FXIII 浓缩物治疗。
