Oommen Alvin, Gautam Kripali, Kumar Akash
Internal Medicine, Montefiore Medical Center, New York, USA.
Internal Medicine, New York University (NYU) Langone Health, New York, USA.
Cureus. 2023 Jul 7;15(7):e41494. doi: 10.7759/cureus.41494. eCollection 2023 Jul.
Heyde's syndrome (HS) is a complex condition characterized by the coexistence of severe aortic stenosis (AS) and gastrointestinal (GI) angiodysplasia. The prevailing belief has been that acquired von-Willebrand factor deficiency (AVWD) is the underlying cause of HS. However, the validity of this theory remains contentious, as there have been reports of bleeding angiodysplasia in the setting of AS despite normal von-Willebrand factor (vWF) activity. Here, we present a compelling case of HS with negative diagnostic testing for AVWD. A 61-year-old female with a history of end-stage renal disease on hemodialysis, AS, and a history of recurrent GI bleeding presented with dyspnea. Prior to arrival, she reported multiple episodes of melena and hematochezia and was found to have a hemoglobin of 6 g/dL. Notable exam findings included melenic stool on digital rectal exam and a grade three systolic crescendo-decrescendo murmur that radiated up to the carotids. A transthoracic echocardiogram demonstrated evidence of severe AS. Considering the recurrent GI bleeding and severe AS, HS was suspected. To investigate this further, a vWF disease panel was sent, revealing a normal multimeric pattern. Given hemodynamic stability, she was discharged but had multiple readmissions soon after with recurrent GI bleeding requiring endoscopic intervention. On her last visit, she underwent transcatheter aortic valve replacement (TAVR) with notable resolution in her GI bleeds thereafter. The prevailing theory regarding the etiology of HS is acquired vWF deficiency. However, the validity of this theory remains a topic of debate, as a growing body of evidence suggests that the absence of AVWD does not necessarily rule out the diagnosis. The absence of AVWD in our patient raises questions about its prevalence in HS and its status as a key feature and highlights the importance of considering HS events without AVWD, given the risk of recurrent life-threatening GI bleeds.
海德综合征（HS）是一种复杂病症，其特征为严重主动脉瓣狭窄（AS）与胃肠道（GI）血管发育异常并存。一直以来，人们普遍认为获得性血管性血友病因子缺乏（AVWD）是HS的根本病因。然而，这一理论的有效性仍存在争议，因为有报道称，尽管血管性血友病因子（vWF）活性正常，但在AS患者中仍出现了出血性血管发育异常。在此，我们报告一例对AVWD诊断检测呈阴性的典型HS病例。一名61岁女性，有终末期肾病并接受血液透析病史、AS病史，且有反复胃肠道出血病史，因呼吸困难就诊。在到达之前，她报告有多次黑便和便血发作，检查发现血红蛋白为6 g/dL。显著的检查结果包括直肠指检时发现黑便，以及三级收缩期递增-递减型杂音，向颈动脉传导。经胸超声心动图显示有严重AS的证据。考虑到反复胃肠道出血和严重AS，怀疑为HS。为进一步调查，送检了vWF疾病检测组，结果显示多聚体模式正常。鉴于血流动力学稳定，她出院了，但出院后不久因反复胃肠道出血多次再次入院，需要内镜干预。在她最后一次就诊时，接受了经导管主动脉瓣置换术（TAVR），此后胃肠道出血明显缓解。关于HS病因的主流理论是获得性vWF缺乏。然而，这一理论的有效性仍是一个争论的话题，因为越来越多的证据表明，AVWD的缺失并不一定排除诊断。我们患者中AVWD的缺失引发了关于其在HS中的患病率及其作为关键特征的地位的问题，并突出了考虑无AVWD的HS事件的重要性，因为存在反复危及生命的胃肠道出血风险。
