Scientific letter
Upper gastrointestinal bleeding in a patient with Marfan’s disease
Hemorragia digestiva alta en un paciente con enfermedad de Marfan
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The prevailing aetiological causes depend on the age range,<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> with NSAID gastritis, Dieulafoy’s lesion and caustic ingestion being the most common. Less commonly, they are also described in patients with structural abnormalities in blood vessels or internal organs, due to vascular disease (Wegener, microscopic polyangiitis), vascular malformations (Rendu–Osler–Weber) or connective tissue diseases (pseudoxanthoma elasticum, Marfan, Ehlers–Danlos, Loeys–Dietz).</p><p id="par0010" class="elsevierStylePara elsevierViewall">We report the case of a 14-year-old male with no history of interest who went to the emergency department for coffee ground vomitus. The patient’s past history included occasional use of NSAIDs in the previous week. Laboratory tests showed haemoglobin of 9 g/dl. An upper gastrointestinal endoscopy (UGE) in retroversion showed the mucosa of the upper body of stomach and fundus to be erythematous and congestive with several superficial linear ulcerations without active bleeding (Forrest III). The patient developed massive haematemesis after 48 h, and a second UGE was performed, which showed a 1 cm ulcer in the subcardial region with mild drooling bleeding (Forrest I-B) and adjacent denuded and friable mucosa of the fundus and upper body. Haemostatic treatment was applied to the ulcer and the bleeding was controlled. Again, 48 h later, he presented with new haematemesis and haemodynamic instability, which required a third UGE in the ICU: drooling bleeding was observed in the previously described subcardial ulcer, and, in addition, the adjacent mucosa of the upper body was very thin and friable, with spontaneous and diffuse bleeding. Given the recurrent nature of the bleeding, superselective embolization of the right gastric artery branches was finally performed using microcoils, without further episodes of bleeding.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The patient’s physical examination revealed an antimongoloid palpebral fissure and eyelid scars, also highlighting generalized joint hyperlaxity. Beighton’s score was completed and was positive (4 points): passive dorsiflexion of the 5th finger exceeding 90° bilaterally and passive apposition of the thumbs to the flexor aspect of the forearm bilaterally. Suspecting a connective tissue disorder, a genetic study was requested, the results of which indicated the presence of a heterozygous p.Arg1125GIn mutation in the FBN1 gene, with this mutation being autosomal dominant, corresponding to Marfan syndrome.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Although the gastrointestinal bleeding was initially attributed to NSAIDs, the course and recurrent nature of the bleeding, the atypical endoscopic findings (denuded and friable mucosa) and the patient’s features on physical examination led to the establishment of a differential diagnosis with connective tissue diseases, confirming a rare mutation of Marfan syndrome by genetic study.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Marfan syndrome is an autosomal dominant type 1 fibrinopathy caused by a heterozygous mutation of the FBN1 gene that encodes the protein fibrillin-1, an essential component of the microfibrils that form part of the extracellular matrix, giving it strength and structural integrity, so that, when deficient, the connective tissue is fragile and unstructured, facilitating its rupture. Although any organ or system can be affected, giving rise to very varied manifestations, it is characterized by skeletal manifestations (tall stature with trunk-limb disproportion, scoliosis and/or pectus excavatum), ocular (ectopia lentis) and cardiovascular (aortic aneurysm and/or or mitral valve prolapse).<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">In the absence of family history and classic skeletal–ocular–cardiovascular manifestations, a positive systemic score or the presence of a FBN1 gene mutation is required for diagnosis, with the p.Arg1125GIn mutation of said gene being the basis of diagnosis in our case.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> This is especially important in paediatric or young adult patients as they potentially present incomplete conditions whose development is age-dependent, requiring high suspicion for early diagnosis to allow early detection of cardiovascular malformations that compromise prognosis.</p><p id="par0035" class="elsevierStylePara elsevierViewall">The gastrointestinal manifestations associated with Marfan’s disease are mainly functional and derive from abdominal wall or diaphragmatic hernias,<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> with gastrointestinal bleeding being rare and caused by arterial or visceral rupture mechanisms. In our patient, these causes were ruled out by angio-CT and arteriography, attributing the gastrointestinal bleeding to structural and functional alteration of the connective tissue, both of the gastric submucosa, since it is mainly made up of collagen fibres that surround and protect its abundant vasculature, as well as the lamina propria of the gastric mucosa, a tissue equally abundant in collagen.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Ethical responsibilities</span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Protection of people and animals</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that no experiments on humans or animals have been performed for this research.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Data confidentiality</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors declare that they have followed their centre’s protocols on the publication of patient data.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Right to privacy and informed consent</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article. Informed consent was not requested for the publication of this case because no personal data enabling the identification of the patient are published in this article.</p></span></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Funding</span><p id="par0055" class="elsevierStylePara elsevierViewall">This research has not received specific funding from public or private sector agencies or non-profit organisations.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Conflict of interests</span><p id="par0060" class="elsevierStylePara elsevierViewall">The authors declare that there are no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:3 [ "identificador" => "sec0005" "titulo" => "Ethical responsibilities" "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0010" "titulo" => "Protection of people and animals" ] 1 => array:2 [ "identificador" => "sec0015" "titulo" => "Data confidentiality" ] 2 => array:2 [ "identificador" => "sec0020" "titulo" => "Right to privacy and informed consent" ] ] ] 1 => array:2 [ "identificador" => "sec0025" "titulo" => "Funding" ] 2 => array:2 [ "identificador" => "sec0030" "titulo" => "Conflict of interests" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Ruiz-Rodríguez AJ, García Robles A, Benavente Fernández A. Hemorragia digestiva alta en un paciente con enfermedad de Marfan. Med Clin (Barc). 2022;158:237–238.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Pediatric gastrointestinal bleeding: perspectives from the Italian Society of Pediatric Gastroenterology" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "C. Romano" 1 => "S. Oliva" 2 => "S. 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