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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Hemorrhagic hereditary telangiectasia &#40;HHT&#41; is a hereditary autosomal dominant disease associated with mutations in the genes encoding endoglin &#40;ENG&#41; and ALK1 receptor &#40;ACVRL1&#41;&#46; Loss of function of these proteins results in altered angiogenesis that leads to formation of vascular malformations in different organs&#44; including the lungs&#46; The development of pulmonary arteriovenous malformations &#40;PAVMs&#41; can lead to a right-to-left shunt&#44; which impairs gas exchange causing hypoxemia&#44; and puts the patients at risk of severe neurological complications&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> We present the case of a 15-year-old female who developed hypoxemic respiratory failure due to a right-to-left shunt related to multiple PAVMs&#44; that was eventually diagnosed of HHT with a <span class="elsevierStyleItalic">de novo</span> mutation in ENG gene and discuss the diagnostic difficulties in pediatric and adolescent patients&#44; especially when family history is absent&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">We present the case of a 15-year-old female without family or personal history of interest&#44; except for isolated episodes of mild epistaxis in her early childhood&#46; She presented with a 2-year history of worsening exertional dyspnea and fatigue&#46; Physical examination revealed a baseline O<span class="elsevierStyleInf">2</span> saturation measured by pulse oximetry of 88&#37; and 2 lingual telangiectasias&#46; Arterial blood gas values were in the range of respiratory failure&#46; Chest X-ray&#44; lung function tests&#44; electrocardiogram&#44; and echocardiogram were normal&#46; Thoracic computed tomography &#40;CT&#41; without contrast showed multiple bilateral nodular opacities&#46; A new echocardiogram with contrast confirmed the passage of multiple bubbles into the left heart chambers&#46; CT angiography of the pulmonary arteries revealed the presence of multiple bilateral PAVMs&#46; Selective embolization of the larger PAVMs was performed using coils and microvascular plugs&#44; with good angiographic results and clinical improvement&#46; Genetic study showed the variants c&#46;279&#95;280delinsGGA and c&#46;284T&#62;G in ENG&#44; not described in the literature but classified as probably pathogenic and of uncertain significance&#44; respectively&#46; Neither of the variants was found in the study of her parents&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Diagnosis of HHT is based on the Cura&#231;ao criteria&#44; which include &#40;1&#41; spontaneous and recurrent epistaxis&#44; &#40;2&#41; telangiectasia&#44; &#40;3&#41; family history&#44; and &#40;4&#41; visceral vascular malformations&#46; It is considered &#8220;definite&#8221; if at least 3 of the 4 criteria are fulfilled and &#8220;probable&#8221; if at least two are present&#46; If only 1 criterion is present the diagnosis is considered &#8220;unlikely&#8221;&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">2&#44;3</span></a> Many clinical manifestations of HHT develop with age&#44; therefore the Cura&#231;ao criteria are not as helpful in children and adolescents as they are in adults&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">4&#44;5</span></a> On the other hand&#44; it has been noticed that a significant proportion of patients with genetically confirmed HHT&#44; with or without PAVMs&#44; do not meet diagnostic criteria for definite HHT&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">6</span></a> In these cases&#44; family history may provide an important clue for early diagnosis&#46; Due to limitations of Cura&#231;ao criteria&#44; especially in children and adolescents&#44; current guidelines advocate genetic testing in patients with one or more PAVMs&#44; even in the absence of family history&#46;<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">6&#44;7</span></a> Our case represents a very unusual presentation of HHT with isolated respiratory failure&#44; without family history&#44; significant epistaxis&#44; or evident telangiectasia&#44; and highlights the importance of considering HHT in the differential diagnosis of patients with PAVMs&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0020" class="elsevierStylePara elsevierViewall">This research did not receive any specific grant from funding agencies in the public commercial&#44; or not-for-profit sectors&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflict of interest</span><p id="par0025" class="elsevierStylePara elsevierViewall">The authors declare to have no conflict of interest directly or indirectly related to the manuscript content&#46;</p></span></span>"
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Vol. 60. Issue 2.
Pages 124 (February 2024)
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Vol. 60. Issue 2.
Pages 124 (February 2024)
Letter to the Director
Diagnostic Difficulties in Hemorrhagic Hereditary Telangiectasia Presenting With Respiratory Failure and a De Novo Mutation in ENG Gene
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Alfonso Gutiérrez-Macíasa,
Corresponding author
alguma6725@outlook.es

Corresponding author.
, Begoña Salinas-Lasab, Julen Agirre-Castilleroa
a Department of Internal Medicine, Basurto University Hospital, Bilbao, Spain
b Department of Respiratory Medicine, Basurto University Hospital, Bilbao, Spain
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