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the patient reported prior symptoms of influenza&#44; a coughing spell that triggered severe pain in the right haemothorax and presyncope symptoms&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Personal history of note included&#58; smoker of 30 packs&#47;year&#44; hypertension under treatment&#44; an episode of left carotid-cavernous fistula aged 25 treated by embolisation&#46; At 37 years he presented with symptoms of sudden abdominal pain resulting in spontaneous haemoperitoneum secondary to rupture of the round ligament&#44; confirmed in emergency surgery&#46; During the surgery&#44; splenic rupture occurred which required splenectomy&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Family history of a father who died aged 30 years due to sudden death from an unexplained case&#46; Paternal grandmother died aged 50 from internal bleeding secondary to a ruptured axillary artery from mild trauma&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">On physical examination&#58; cutis marmorata&#44; abundant haematomas on the upper limbs and thorax&#44; secondary to banal trauma&#44; slight hyperlaxity in metacarpophalangeal joints&#44; without typical facies&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Pleural drainage of dense haematic content was performed&#44; after which a computed tomography &#40;CT&#41; of the thorax was performed which revealed the presence of a ruptured aneurysm of the right internal mammary artery&#44; causing ipsilateral haemothorax &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; He also had an aneurysm in the common hepatic artery&#46; Embolisation of the ruptured aneurysm was performed as treatment&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall">When EDS is suspected&#44; a confirmatory genetic study is carried out for the presence of heterozygosis in the splicing variant c&#46;636&#43;1G&#62;T in gene COL3A1&#46; The variant described is not recorded on the databases consulted&#44; but similar variants in the same point that are associated with type IV EDS are&#46; It is transmitted with autosomal dominant inheritance&#46; Once the suspected diagnosis has been confirmed&#44; the study is continued and the family is given genetic counselling&#44; and treatment is started with &#946;-blockers and controls in outpatient clinics&#46; After one year of follow-up&#44; the patient remains asymptomatic with no new bleeding episodes&#44; and under treatment with &#946;-blockers&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0040" class="elsevierStylePara elsevierViewall">EDS is a hereditary disease caused by mutations of the collagen gene with different subtypes&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> EDS IV is the most severe form&#46; It is inherited as an autosomal dominant trait and involves procollagen type III deficiency by mutation of the COL3A1 gene&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> It constitutes between 5&#37; and 10&#37; of all cases of EDS&#44; with a prevalence of 1&#47;50 000&#8211;1&#47;200 000 inhabitants&#46; It is a potentially fatal variant&#44; increasing the risk of visceral and vascular rupture&#46; The absence of hyperelasticity of large joints stands out&#44; although the small distal joints of the hand may show moderate elasticity&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> Diagnosis is based on the sum of clinical criteria and is confirmed by genetic study&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> There is no effective treatment&#44; although the administration of &#946;-blockers has been trialled previously to reduce catastrophic bleeding&#46;<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4&#44;5</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Follow-up includes minimising trauma&#44; identifying patients and creating a care group around them&#44; forming and facilitating individualised emergency plans&#44; centralising treatment in referral centres&#44; maintaining normal blood pressure and&#44; in the event of high blood pressure&#44; treating it strictly and monitoring the vascular tree by means of ultrasound&#44; CT-arteriography or nuclear magnetic resonance on an annual basis&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conclusions</span><p id="par0050" class="elsevierStylePara elsevierViewall">This is a rare disease&#44; difficult to diagnose&#46; With regard to genetic counselling and emergency management of the patient in the emergency department&#44; it is advisable to know the different possible manifestations to reach a quick suspicion and avoid complications&#46; It is important to avoid trauma&#44; and diagnostic or therapeutic vascular techniques that are not strictly necessary&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Ethical disclosures</span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Protection of human and animal subjects</span><p id="par0055" class="elsevierStylePara elsevierViewall">The authors declare that neither human nor animal testing has been carried out in this research&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Confidentiality of data</span><p id="par0060" class="elsevierStylePara elsevierViewall">The authors declare that they have complied with their work centre protocols for the publication of patient data&#46;</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Right to privacy and informed consent</span><p id="par0065" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article</p></span></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Conflict of interests</span><p id="par0070" class="elsevierStylePara elsevierViewall">The authors have no conflict of interests to declare&#46;</p></span></span>"
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        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Vascular Ehlers-Danlos syndrome &#40;EDS <span class="elsevierStyleSmallCaps">IV</span>&#41; is a rare genetic disorder characterised by an alteration in the COL3A1 gene which encodes type <span class="elsevierStyleSmallCaps">III</span> collagen&#46; It is the most common type of collagen in vessels of medium size and certain organs such as the intestines and the uterus&#46; The alteration of this type of collagen produces aneurisms and ruptures of vessels and organs&#46; A high level of clinical suspicion is required for diagnosis&#46; It is a complex disease whose management requires a multidisciplinary team to treat the different complications that may occur&#46;</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">We report the case of a 50-year-old man diagnosed with EDS <span class="elsevierStyleSmallCaps">IV</span> detected incidentally after haemothorax secondary to a coughing spell&#46;</p></span>"
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Case Report
Haemothorax in vascular Ehlers-Danlos syndrome
Hemotórax en síndrome de Ehlers-Danlos tipo vascular
Kevin Álvareza,
Corresponding author
kevialv@yahoo.es

Corresponding author.
, Jordi Lópezb, Jose Angel Hernándezc
a Servicio de Cardiología, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Las Palmas, Spain
b Servicio de Neumología, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Las Palmas, Spain
c Servicio de Reumatología, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Las Palmas, Spain
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the patient reported prior symptoms of influenza&#44; a coughing spell that triggered severe pain in the right haemothorax and presyncope symptoms&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Personal history of note included&#58; smoker of 30 packs&#47;year&#44; hypertension under treatment&#44; an episode of left carotid-cavernous fistula aged 25 treated by embolisation&#46; At 37 years he presented with symptoms of sudden abdominal pain resulting in spontaneous haemoperitoneum secondary to rupture of the round ligament&#44; confirmed in emergency surgery&#46; During the surgery&#44; splenic rupture occurred which required splenectomy&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Family history of a father who died aged 30 years due to sudden death from an unexplained case&#46; Paternal grandmother died aged 50 from internal bleeding secondary to a ruptured axillary artery from mild trauma&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">On physical examination&#58; cutis marmorata&#44; abundant haematomas on the upper limbs and thorax&#44; secondary to banal trauma&#44; slight hyperlaxity in metacarpophalangeal joints&#44; without typical facies&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Pleural drainage of dense haematic content was performed&#44; after which a computed tomography &#40;CT&#41; of the thorax was performed which revealed the presence of a ruptured aneurysm of the right internal mammary artery&#44; causing ipsilateral haemothorax &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; He also had an aneurysm in the common hepatic artery&#46; Embolisation of the ruptured aneurysm was performed as treatment&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall">When EDS is suspected&#44; a confirmatory genetic study is carried out for the presence of heterozygosis in the splicing variant c&#46;636&#43;1G&#62;T in gene COL3A1&#46; The variant described is not recorded on the databases consulted&#44; but similar variants in the same point that are associated with type IV EDS are&#46; It is transmitted with autosomal dominant inheritance&#46; Once the suspected diagnosis has been confirmed&#44; the study is continued and the family is given genetic counselling&#44; and treatment is started with &#946;-blockers and controls in outpatient clinics&#46; After one year of follow-up&#44; the patient remains asymptomatic with no new bleeding episodes&#44; and under treatment with &#946;-blockers&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0040" class="elsevierStylePara elsevierViewall">EDS is a hereditary disease caused by mutations of the collagen gene with different subtypes&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> EDS IV is the most severe form&#46; It is inherited as an autosomal dominant trait and involves procollagen type III deficiency by mutation of the COL3A1 gene&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> It constitutes between 5&#37; and 10&#37; of all cases of EDS&#44; with a prevalence of 1&#47;50 000&#8211;1&#47;200 000 inhabitants&#46; It is a potentially fatal variant&#44; increasing the risk of visceral and vascular rupture&#46; The absence of hyperelasticity of large joints stands out&#44; although the small distal joints of the hand may show moderate elasticity&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> Diagnosis is based on the sum of clinical criteria and is confirmed by genetic study&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> There is no effective treatment&#44; although the administration of &#946;-blockers has been trialled previously to reduce catastrophic bleeding&#46;<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4&#44;5</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Follow-up includes minimising trauma&#44; identifying patients and creating a care group around them&#44; forming and facilitating individualised emergency plans&#44; centralising treatment in referral centres&#44; maintaining normal blood pressure and&#44; in the event of high blood pressure&#44; treating it strictly and monitoring the vascular tree by means of ultrasound&#44; CT-arteriography or nuclear magnetic resonance on an annual basis&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conclusions</span><p id="par0050" class="elsevierStylePara elsevierViewall">This is a rare disease&#44; difficult to diagnose&#46; With regard to genetic counselling and emergency management of the patient in the emergency department&#44; it is advisable to know the different possible manifestations to reach a quick suspicion and avoid complications&#46; It is important to avoid trauma&#44; and diagnostic or therapeutic vascular techniques that are not strictly necessary&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Ethical disclosures</span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Protection of human and animal subjects</span><p id="par0055" class="elsevierStylePara elsevierViewall">The authors declare that neither human nor animal testing has been carried out in this research&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Confidentiality of data</span><p id="par0060" class="elsevierStylePara elsevierViewall">The authors declare that they have complied with their work centre protocols for the publication of patient data&#46;</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Right to privacy and informed consent</span><p id="par0065" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article</p></span></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Conflict of interests</span><p id="par0070" class="elsevierStylePara elsevierViewall">The authors have no conflict of interests to declare&#46;</p></span></span>"
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        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">El s&#237;ndrome de Ehlers-Danlos de tipo vascular &#40;SED <span class="elsevierStyleSmallCaps">IV</span>&#41; se trata de una rara alteraci&#243;n gen&#233;tica causada por una alteraci&#243;n del gen COL3A1 que codifica el col&#225;geno tipo <span class="elsevierStyleSmallCaps">III</span>&#46; Este es el tipo de col&#225;geno m&#225;s frecuente en los vasos de mediano calibre y en algunos &#243;rganos como intestino y &#250;tero&#46; Su alteraci&#243;n produce&#44; entre otros&#44; aneurismas y roturas de vasos y &#243;rganos&#46; Para su diagn&#243;stico se requiere de un alto nivel de sospecha cl&#237;nica&#46; Se trata de una enfermedad de manejo complejo que requiere de un equipo multidisciplinar para tratar las diferentes complicaciones que pueden acontecer&#46;</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Se presenta el caso de un paciente var&#243;n de 50 a&#241;os diagnosticado de SED <span class="elsevierStyleSmallCaps">IV</span> de forma incidental tras hemot&#243;rax secundario a acceso de tos&#46;</p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; &#193;lvarez K&#44; L&#243;pez J&#44; Hern&#225;ndez JA&#46; Hemot&#243;rax en s&#237;ndrome de Ehlers-Danlos tipo vascular&#46; Reumatol Clin&#46; 2019&#59;15&#58;e128&#8211;e129&#46;</p>"
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Article information
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