Boeriu Estera, Arghirescu Teodora Smaranda, Serban Margit, Patrascu Jenel Marian, Boia Eugen, Jinca Cristian, Schramm Wolfgang, Traila Adina, Ursu Cristina Emilia
Department of Pediatrics, Division of Onco-Hematology, Victor Babes University of Medicine and Pharmacy Timisoara, 300041 Timisoara, Romania.
Onco-Hematology Research Unit, Romanian Academy of Medical Sciences, Children Emergency Hospital "Louis Turcanu" Timisoara, European Hemophilia Treatment Centre, 300011 Timisoara, Romania.
J Clin Med. 2022 Jun 9;11(12):3322. doi: 10.3390/jcm11123322.
(1) Background: Mild and moderate hemophilia, synonymous with non-severe hemophilia (NSH), are of constant interest for the clinicians. Bleeding occurs usually after trauma, injury, surgery, or inhibitor development, sometimes leading to a shift of the clinical phenotype from mild to severe, even with life-threatening and unexpected outcomes. (2) Methods: We performed a retrospective observational study conducted on 112 persons with congenital coagulopathies, 26 of them with NSH, admitted to our clinic in the period 2000 to 2022. For the diagnosis, we used laboratory studies (complete blood cell count, coagulation assays, biochemistry, thromboelastography, genetic tests) and imaging investigations (X-ray, ultrasound, CT, MRI). We selected four cases confronted with pitfalls of diagnosis and evolution in order to illustrate the sometimes provocative field of NSH. (3) Results: Confronted with challenging cases with under-, missed or delayed diagnosis and severe consequences, we aimed at presenting four such selected cases with mild or moderate hemophilia, real pitfalls in our clinical activity. (4) Conclusions: In the field of NSH, if not timely recognized, tending sometimes to remain ignored by caregivers and patients themselves, we can be confronted with challenging diagnostic situations and life-threatening bleeds.
（1）背景：轻度和中度血友病，即非重度血友病（NSH），一直是临床医生关注的焦点。出血通常发生在创伤、损伤、手术或抑制剂形成之后，有时会导致临床表型从轻度转变为重度，甚至出现危及生命和意想不到的后果。（2）方法：我们对2000年至2022年期间收治到我们诊所的112例先天性凝血病患者进行了一项回顾性观察研究，其中26例为非重度血友病患者。诊断时，我们采用了实验室检查（全血细胞计数、凝血试验、生化检查、血栓弹力图、基因检测）和影像学检查（X线、超声、CT、MRI）。我们挑选了4例在诊断和病情发展过程中遇到陷阱的病例，以说明非重度血友病这一有时颇具挑战性的领域。（3）结果：面对诊断不足、漏诊或延误诊断且后果严重的具有挑战性的病例，我们旨在呈现4例这样的轻度或中度血友病精选病例，它们是我们临床工作中实实在在的陷阱。（4）结论：在非重度血友病领域，如果未能及时识别，有时会倾向于被护理人员和患者自身忽视，我们可能会面临具有挑战性的诊断情况和危及生命的出血。
