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An Unrecognized Disease in Routine Clinical Practice: the Heyde's

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An Unrecognized Disease in Routine Clinical Practice: the Heyde's Emergency Care Journal 2014; volume 10:1649 An unrecognized disease lar subendothelium. The high molecular weight multimers are important for maintain- Correspondence: Raffaele Pezzilli, Department of in routine clinical practice: ing hemostasis during high shear stress, a Digestive Diseases and Internal Medicine, S. the Heyde’s syndrome condition that is found in patients with Orsola-Malpighi University Hospital, via angiodysplastyc malformations.4 Thus, the HS Massarenti 9, 40138 Bologna, Italy. Beatrice Casadei, Valentina Grasso, is a triade constituted by aortic-valve stenosis, Tel. +39.051.6364148 - Fax: +39.051.6364148. E-mail: [email protected] Giulio Cariani, Bahjat Barakat, GI angiodysplasia and deficiency of high- Raffaele Pezzilli molecular-weight von Willebrand factor multi- Key words: aortic stenosis, angiodysplasia, gas- mers. Until now few cases of Heyde’s syn- Department of Digestive Diseases and trointestinal bleeding, Heyde’s syndrome, von drome has been reported and we believe of Willebrand factor. Internal Medicine, S. Orsola-Malpighi interest to add a new case of patient having University Hospital, Bologna, Italy this syndrome. Contributions: the authors contributed equally. Conflict of interests: the authors declare no potential conflict of interests. Abstract Case Report Received for publication: 9 May 2013. Revision received: 28 June 2013. Heyde’s syndrome (HS) is a triade constitut- An 86-year-old female patient was hospital- Accepted for publication: 5 September 2013. ed by aortic stenosis, gastrointestinal angiodys- ized for the second episode of melena within 4 plasia and deficiency of high-molecular-weight months. The patient had a history of scleroder- This work is licensed under a Creative Commons Attribution 3.0 License (by-nc 3.0). von Willebrand factor multimers. Until now few mia with calcinosis, Raynaud’s syndrome, cases of HS has been reported and we believe of esophageal dysmotility, sclerodactyly and interest to add a new patient having this disor- ©Copyright B. Casadei et al., 2014 telangiectasia (CREST) syndrome, hypothy- Licensee PAGEPress, Italy der. We report a case of HS in an 86-year-old roidism, chronic obstructive pulmonary dis- Emergency Care Journal 2014; 10:1649 female patient admitted for the second episode ease, arterial hypertension and aortic-valve doi:10.4081/ecj.2014.1649 of melena in the last 4 months. A colonoscopy stenosis. Cardiac auscultation revealed a only revealed a bleeding due to angiodysplasia in the grade III/IV systolic murmur at the second ascending colon and an endoscopic argon laser right intercostal space radiating to the neck valve stenosis and GI bleeding due to photocoagulation of the colonic angiodysplasia and digital rectal examination showed melena. was successfully carried out. Physicians should Laboratory examination revealed a hypocromicuse angiodysplasia has been confirmed by various be aware of the possibilities of acquired von microcytic anemia with haemoglobin concen- studies and the prevalence varies among the 2,5 Willebrand disease and gastrointestinal bleed- trations of 7.2 g/dL, MCV 72 fL and MCH 22.5 studies so far published. As in this reported ing from angiodysplasia in patients with aortic pg; the platelet count was normal whereas an case, both these disorders appear in elderly valve stenosis because a right diagnosis affects iron deficiency was detected (concentration of patients and are related to the degenerative 6 the management of these patients, especially in iron in blood serum was 30 mg/dL). A decrease process of aging. As shown in Table 1, there is emergency situations. of large molecular weight multimers of von no gender preference, the age of patients hav- Willebrand factor was finally detected. The ing this syndrome is advanced (median 70 transthoracic echocardiogram showed a severe years) and all bowel segments may be involved aortic stenosis due to degenerative valve calci- by the angiodysplasia. The risk of mucosal Introduction fication with a mean transvalvular gradient of bleeding is caused by the acquired type 2A von 41 mmHg and a valvular area of 0.9 cm2. The Willebrand syndrome that is a consequence of The association between calcific aortic- endoscopic study of colon revealed a bleeding a high shear stress presented in narrowed valve stenosis and gastrointestinal (GI) bleed- due to angiodysplasia in the ascending colon valve.41 During passing through stenotic aortic ing was firstly described by Edward Heyde in (Figure 1). The selective angiography of valves, the coiled von Willebrand multimer, the 1958 who reported ten elderly patients with mesenteric arteries did not show an active which normally circulates in plasma, is con- calcific aortic stenosis and massive GI bleed- bleeding. Other sites of bleeding in the diges- verted into an elongated highly asymmetric ing of obscure origin.1 In 1986Non-commercial submucosal tive tract were also excluded by capsule protein exposing the A2 domain. The metallo- angiodysplasia was identified as a possible endoscopy. The patient was supported with proteinase ADAMTS-13 binds the A2 domain source of GI bleeding in patients with aortic- blood transfusions and iron supplement was and causes the proteolysis of the high-molec- valve stenosis.2 One year later, King et al. also given intravenously. An endoscopic argon ular-weight multimers into smaller multimers reported the cessation of GI bleeding after aor- laser photocoagulation of the colonic angiodys- that are less hemostatically competent.42 In tic-valve replacement and confirmed the asso- plasia was successfully carried out (Figure 2). most cases the loss of high-molecular-weight ciation between degenerative aortic-valve Considering her age and comorbidities multimers is associated with abnormalities in stenosis and GI bleeding due to angiodyspla- determining a significant surgical and anaes- platelet adhesion and aggregation in vitro.43 sia.3 A key study in understanding of this dis- thesiological risk, surgical valve replacement Vincentelli et al. reported that the 21% of 42 ease was carried out by Warkentin et al. who was not performed. After six month of follow- patients with severe aortic-valve stenosis had suggested that HS was a form of type 2A von up, the patient remained in good clinical con- a history of mucosal bleeding with platelet Willebrand disease (vWD), an acquired syn- ditions and no further GI bleeding occurred. function abnormalities and reduction of high- drome characterized by a deficiency of high- molecular-weight vWf multimers.44 These data molecular-weight von Willebrand factor multi- showed that the loss of largest multimers was mers (vWf).4 VWf is a multimeric glycoprotein inversely correlated with the transvalvular produced in endothelium and megacaryocites, Discussion aortic gradient and the valve replacement playing a role in primary hemostasis because it halted the depletion of these multimers. In permits the adhesion of platelets to the vascu- The association between calcific aortic- addition, von Willebrand factor is essential for [Emergency Care Journal 2014; 10:1649] [page 1] Case Report Table 1. Clinical characteristics of patients having Heyde’s syndrome in case reports and two retrospective studies. Cases Gender Age at Site Bleeding Treatment (n.) diagnosis angiodysplasia recurrence Case reports Galloway et al.7 3 3 F 53, 71, 70 Ascending colon Blood transfusions, right colectomy Gelfand et al.8 5 2 M, 3 F 65 4 ascending colon, 5 Blood transfusions, 4 right colectomy, 1 small bowel 1 resection of jejunum Boyle et al.9 1 1 F 64 Not identified Aortic valve replacement Cappell and Lebwohl10 2 2 F 66, 69 1 gastroduodenal, Aortic valve replacement, 1 stomach, colon blood transfusion, iron supplementation Baciewicz and Davis11 1 1M 48 Descending colon Yes Colectomy with ileoproctostomy Casson and McKenzie12 1 1 F 68 Stomach Endoscopic sclerosis Apostolakis et al.13 2 1 M, 1 F 67, 68 2 Colon Aortic valve replacement, blood transfusion Kraft and Hahn14 4 3 M, 1 F 67, 87, 74, 73 3 small bowel Resection, blood transfusion 1 colon Natowitz et al.15 2 1 M, 1 F 72, 74 2 small bowel Replacement of the aortic valve Knobloch et al.16 2 1 M, 1 F 61, 75 1 not identified Aortic valve replacement, blood transfusion 1 small bowel Granel et al.17 1 1 M 61 Small bowel Aortic valve replacement, blood transfusion Luckraz et al.18 1 1 F 80 Small bowel Yes Aortic valve replacement, endoscopic argon plasma coagulation Lee et al.19 1 1 F 68 Colon Yes Hemicolectomy, argon plasma coagulation Pennacchietti and Capone20 1 1 F 72 Not identified onlyMedical treatment Corrêa et al.21 11 89 Small bowel Medical treatment Giovannini et al.22 1 1 M 70 Small bowel Yes Right hemicolectomy and resection of terminal ileum Ogano et al.23 1 1 M 64 Colon use Colectomy De Palma et al.24 1 1 M 58 Small bowel Octreotide 20 mg, at monthly interval Morishima et al.25 1 1 F 78 Small bowel Aortic valve replacement, supplementation of von Willebrand factor and factor VIII Henne et al.26 1 1 M 60 Stomach Yes Endoscopic argon plasma coagulation Schmid et al.27 1 1 M 79 Colon Medical treatment Hokama et al.28 1 1 F 90 Ascending colon Hemoclipping Hui et al.29 1 1 F 68 Small bowel Blood transfusion, iron supplements, endoscopic treatment Rahhal and Chamberlain30 1 1 F 64 Cecum Endoscopic laser coagulation Gandhi et al.31 1 1 F 82 Ascending colon Medical treatment Takahashi et al.32 1 1 F 82 Colon Endoscopic clipping before the successful aortic valve replacement Vaz et al.33 1 1 M 69 Stomach Blood transfusion, iron supplements,
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