Estudios de agregación plaquetaria como endofenotipo de las alteraciones hereditarias de la fibra colágena / Platelet aggregation studies as an endophenotype of hereditary disorders of collagen fiber

Introducción: Las plaquetas contribuyen a la hemostasia y la interrupción heredada o adquirida; en sus procesos bioquímicos pueden alterar la función plaquetaria. Estos trastornos de agregación se han asociado a enfermedades genéticas con afectación del tejido conectivo como el síndrome Ehlers-Danlos, cuyo diagnóstico diferencial con el espectro de hipermovilidad articular resulta difícil clínica y molecularmente. Estas entidades con afectación en las fibras colágenas y diferente repercusión clínica precisan diferenciales en su diagnóstico clínico. Métodos: Se revisaron 353 historias clínicas de pacientes atendidos en el Servicio de Genética del Hospital Pediátrico William Soler desde septiembre del 2009 al 2012, con diagnóstico de hipermovilidad articular por criterios de Beighton y de Ehlers-Danlos según Villefranche (1997). Se incluyó a los pacientes de 5-18 años con resultados documentados del estudio de agregación plaquetaria, valorados por especialistas en hematología. Resultados: Se encontraron trastornos de agregación plaquetaria en 79 de 86 pacientes (92 por ciento). En 7 casos con hipermovilidad de 65 con este diagnóstico (10 por ciento), los resultados fueron negativos. Los 21 con síndrome Ehlers-Danlos tuvieron afectaciones con los fosfolípidos plaquetarios. La hipermovilidad articular estuvo asociada a la combinación difosfato de adenosina (ADP)-epinefrina y el Ehlers-Danlos a la combinación ADP-epinefrina-colágeno-fosfolípidos. Conclusiones: Los pacientes con hipermovilidad articular mostraron asociación a defectos de liberación de gránulos con agonistas como el ADP-epinefrina y los Ehlers-Danlos con la disponibilidad de los fosfolípidos, relacionados con el cambio de forma plaquetaria. Este resultado puede ser una herramienta para conocer el endofenotipo funcional plaquetario como elemento diferencial en los trastornos de la fibra colágena(AU)

Introduction: Platelets contribute to hemostasis and inherited or acquired interruption; in its biochemical processes it can alter platelet function. These aggregation disorders have been associated with genetic diseases with connective tissue involvement such as Ehlers-Danlos syndrome, whose differential diagnosis with the spectrum of joint hypermobility is clinically and molecularly difficult. These entities with involvement of the collagen fibers and different clinical repercussions require differentials in their clinical diagnosis. Methods: 353 medical records of patients attended in the Genetics service of the William Soler Pediatric Hospital from September 2009 to 2012, with a diagnosis of joint hypermobility by Beighton and Ehlers-Danlos criteria according to Villefranche (1997) were reviewed. Patients aged 5-18 years were included with documented results of the platelet aggregation study, assessed by specialists in hematology. Results: Platelet aggregation disorders were found in 79 of 86 patients (92 percent). In 7 cases with hypermobility of 65 with this diagnosis (10 percent), the results were negative. The 21 with Ehlers-Danlos syndrome had affectations with platelet phospholipids. Joint hypermobility was associated with the combination adenosine diphosphate (ADP) -epinephrine and the Ehlers-Danlos with the combination ADP-epinephrine-collagen-phospholipids. Conclusions: Patients with joint hypermobility showed an association to granule release defects with agonists such as ADP-epinephrine and Ehlers-Danlos with the availability of phospholipids, related to platelet shape change. This result can be a tool to know the platelet functional endophenotype as a differential element in collagen fiber disorders(AU)

Signos y síntomas en niños y adolescentes con hipermovilidad articular: un estudio transversal cuantitativo observacional / Signs and symptoms in children and adolescents with joint hypermobility: an observational, quantitative cross-sectional study

Contexto y Objetivo: La hipermovilidad articular (HA) puede representar el ex-tremo del rango normal de movimiento o condición para un grupo de trastornos hereditarios del tejido conectivo, con una variación de 2-64.6% en diferentes poblaciones. El objetivo fue caracterizar la asociación entre HA con las manifestaciones en forma de signos y síntomas.Tipo de Estudio y Ajuste: Estudio transversal cuantitativo observacional en un hospital universitario público.Métodos: Estudio con niños y adolescentes entre 5 y 16 años, de ambos sexos, en asistencia multiprofesional en la clínica ambulatoria de HA y SED en el Hospital Base de São José do Rio Preto y en la Unidad del Proyecto "Gato de Botas", en colaboración con FAMERP. Se utilizó un cuestionario para registrar datos y análisis realizados en base a cálculos de medidas de tendencia central, dispersión y conteos de frecuencia.Resultados: El puntaje 4 obtuvo la frecuencia más alta (45,61%), seguido del puntaje 6 (21,05%). Las manifestaciones musculoesqueléticas y extraesqueléticas fueron frecuentes. La variable de hiperextensión del quinto dedo >90º fue la variable con mayor incidencia, seguida de la aposición del pulgar al tocar la región flexora del antebrazo.Conclusiones: Entre los niños y adolescentes con HA, la mitad o más presentaron manifestaciones musculoesqueléticas o extraesqueléticas.

Background and Aim: Joint hypermobility (JH) may be the extreme of the normal range of motion or a condition for a group of hereditary connective tissue disorders, with a prevalence rate of 2 to 64.6% in different populations. The aim of the present study was to characterize the association between JH and manifestations in the form of signs and symptoms. Study Type and Setting: An observational, quantitative, cross-sectional study was conducted at a public hospital. Methods: This study involved the participation of male and female children and adolescents aged five to 16 years under multidisciplinary care at the JH and Ehlers-Danlos syndrome clinic of the São José do Rio Preto Base Hospital and the "Gato de Botas" Project Unit in partnership with the São José do Rio Preto School of Medicine. A questionnaire was administered for the recording of the data, which were analyzed descriptively, with the calculation of central tendency and dispersion measures as well as the determination of frequencies.Results: Beighton score 4 was the most frequent (45.61%), followed by score 6 (21.05%). Musculoskeletal and extraskeletal manifestations were frequent. Hyperextension of the 5th finger > 90º had a higher occurrence, followed by the thumb touching the flexor region of the forearm. Conclusions: Among children and adolescents with hypermobility, half or more had musculoskeletal or extraskeletal manifestations.

Síndrome de Ehlers-Danlos hipermóvel: um relato de caso / Hypermobile Ehlers-Danlos syndrome: a case report

A síndrome de Ehlers-Danlos é estabelecida por distúrbios hereditários do tecido conjuntivo que tem como manifestações principais a hipermobilidade articular, a hiperextensibilidade da pele e a fragilidade de tecidos, como articulações, ligamentos, pele, vasos sanguíneos e órgãos internos. São reconhecidos 13 subtipos, de acordo com Classificação Internacional de 2017. Dentre estes, abordamos o hipermóvel, cujo diagnóstico é eminentemente clínico, com manifestações sistêmicas distintas. Esse artigo refere-se ao caso de uma paciente diagnosticada com síndrome de Ehlers-Danlos hipermóvel, tendo como intuito a atualização acerca dos novos critérios diagnósticos, assim como o diagnóstico precoce de tal raropatia.

Ehlers-Danlos syndrome is established through hereditary disorders of connective tissue, and has as its manifestations: joint hypermobility, skin hyperextensibility, and fragility of tissues such as joints, ligaments, skin, blood vessels, and internal organs. Thirteen subtypes have been recognized according to the 2017 International Classification. Among these, the hypermobile type, the diagnosis of which is eminently clinical, with distinct systemic manifestations, will be addressed. This article refers to the case of a patient diagnosed with hypermobile Ehlers-Danlos syndrome, with the objective of updating the new diagnostic criteria, as well as the early diagnosis of such a rare disease.

Utilidad del método clínico en el diagnóstico de algunos síndromes genéticos / Use fulness of the clinical method for diagnosing a group of clinical syndromes

Introducción: El método científico es un método general, constituido por varias etapas necesarias en el desarrollo de toda investigación científica. Es la forma de abordar la realidad y estudiar los fenómenos de la naturaleza, para descubrir su esencia y sus interrelaciones. El método clínico es la aplicación particular del método científico en el ejercicio de la práctica médica, y en las condiciones económicas actuales prevalecientes a nivel mundial resulta de inestimable valor su aplicación por las ventajas que reporta desde ese punto de vista, así como también por el bienestar del paciente que no es sometido a innecesarios y costosos procedimientos diagnósticos. Objetivo: Proporcionar al personal médico los criterios clínicos para lograr, mediante el uso del método clínico, el diagnóstico de algunos síndromes genéticos; los que han sido elaborados luego de una exhaustiva delineación clínica de estos. Métodos: Se realizó una revisión de los textos básicos de genética clínica y sindromología con independencia del año de su publicación y se realizó una búsqueda en las bases de datos Medline, Lilacs y Cochrane en el periodo comprendido entre 2012 y 2016. Conclusiones: Fueron reflejados los criterios establecidos para el diagnóstico clínico de catorce síndromes genéticos(AU)

Introduction: The scientific method is a general method which consists of several stages necessary for the development of all scientific research. It is the way to approach reality and to study the phenomena of nature, to discover their essence and interrelations. The clinical method is the particular application of the scientific method in the medical practice, and in the current economic conditions prevailing worldwide, its application is of inestimable value because of the advantages it brings from that point of view, as well as for the well-being of the patient, who would not be subjected to unnecessary and expensive diagnostic procedures. Objective: To provide the medical personnel with the clinical criteria to achieve, through the use of the clinical method, the diagnosis of some genetic syndromes. Such criteria have been elaborated after an exhaustive clinical description of those conditions. Methods: A review of basic texts of clinical genetics and syndromology was carried out regardless the year of publication. A search was carried out in the databases Medline, Lilacs and Cochrane, in the period between 2012 and 2016. Conclusions: The criteria established for the clinical diagnosis of fourteen genetic syndromes have been presented(AU)

Sospecha diagnóstica de síndrome de Ehlers Danlos tipo vascular: reporte de un caso y revisión de literatura / Suspected vascular ehlers danlos syndrome: case report

Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done.

Suspicious scars: physical child abuse vs Ehlers-Danlos syndrome

Child abuse is a sensitive topic among many medical practitioners and the diagnosis of this entity requires awareness about conditions which can mimic physical child abuse. Here, the authors present a case of a 13-year-old school non-attendee who was referred due to multiple scars, over areas prone to accidental as well as non-accidental injury, who underwent medicolegal examination due to suspicion of physical child abuse. On further inquiry, it was discovered that she had easy bruising and poor wound healing. A diagnosis of Ehlers-Danlos syndrome was established and physical child abuse was excluded. This case emphasizes the importance of identifying conditions which may confound the diagnosis of physical child abuse. This is of utmost importance in avoiding adverse legal and psycho-social implications on the child, family and society.

Síndrome de Ehlers-Danlos Clásico o Ehlers-Danlos tipo I - II / The Classic Ehlers-Danlos or Ehlers-Danlos type I - II

El Síndrome de Ehlers-Danlos Clásico o Ehlers-Danlos tipo I - II, al igual que el Ehlers-Danlos Vascular son poco frecuentes, si se les compara con el tipo Hipermovible o tipo III, el que afecta al 39 por ciento de la población chilena. Es importante porque al tener marcada hiperlaxitud articular (contorsionistas) presenta subluxaciones importantes. Además, debido a la gran hiperextensibilidad de la piel, la que es muy frágil, tiene tendencia a heridas y a mala cicatrización. Al igual que los otros tipos de Síndrome de Ehlers-Danlos, el Clásico puede tener Hábito Marfanoide o/y Disautonomía. Se puede presentar también con Osteopenia u Osteoporosis, hernias, várices, hemorroides y prolapso. Tiene herencia autosómica dominante y la alteración genética es conocida (COL5A1 o COL5A2).

The Classic Ehlers-Danlos or Ehlers Danlos type I - II, as the Vascular Ehlers-Danlos are infrequent, as compared with the Hypermobile or type III, that affects 39 percent of the chilean population. It is important because due to the marked joint hypermobility (contosionists) presents important subluxations. Also due to the important skin laxity, which is fragile it has tendency to injuries and poor cicatrization. As the other Ehlers-Danlos types, the Classic Ehlers-Danlos can present with Marfanoid habitus and or Dysautonomia. It also can have Osteopenia or Osteoporosis, hernias, varicose veins, hemorrhoids and prolapse. It has dominant Autosomic inheritance and the genetic alteration is known (COL5A1 or COL5A2).

Síndrome de Ehlers-Danlos vascular: complicaciones vasculares graves en enfermos con hipermovilidad articular / Vascular Ehlers-Danlos syndrome: severe vascular complications in patients with articular hypermobility

El Síndrome de Ehlers-Danlos Vascular es una de las Alteraciones Hereditarias del Tejido Conectivo. Es poco frecuente, pero es de alta morbilidad y mortalidad. Se debe a una mutación del gen COL3A1, que da debilidad del tejido colágeno, por lo que se pueden producir complicaciones graves afectando a la piel, tubo digestivo, hígado, pulmón y sistema vascular. Se pueden producir rupturas intestinales, neumotórax espontáneo, dilatación o ruptura aortica y anuerismas, lo que puede llevar a la muerte súbita del paciente.

The Vascular Ehlers-Danlos is one of Hereditary Diseases of Connective Tissue. Has low prevalence, but high morbidity and mortality. It is due to a COL3A1 gene mutation, producing tissue fragility, which can produce serious complications in the skin, digestive tract, liver, lungs and in the vascular system. It is frequently associated to intestinal ruptures, spontaneous pneumothorax, dilation or rupture of the aorta anuerism, which can lead to sudden death.

Pseudoaneurisma da artéria poplítea em um paciente com Síndrome de Ehlers-Danlos Tipo VI / Pseudoaneurysm of the popliteal artery in a patient with Type VI Ehlers-Danlos Syndrome

A Síndrome de Ehlers-Danlos (EDS) é uma rara doença hereditária do tecido conjuntivo proveniente de uma alteração da síntese do colágeno. A principal característica da EDS é a extrema fragilidade do tecido conjuntivo, que pode resultar em rotura uterina, perfuração intestinal espontânea e várias doenças vasculares como aneurismas, pseudoaneurismas, dissecções arteriais e roturas espontâneas. Os autores relatam o caso de um paciente de 11 anos de idade que apresentava tumor pulsátil na fossa poplítea esquerda após trauma leve com bola de futebol. Diagnosticado pseudoaneurisma de artéria poplítea pelo doppler arterial, confirmado através da angiografia, optou-se pela exploração arterial e devido à fragilidade da parede não foi possível a sua reconstrução. Realizada a ligadura simples da artéria proximal. Evoluiu com isquemia grave do membro e após autorização da família foi realizada a sua amputação. No segundo dia do pós-operatório o paciente apresentou uma dissecção aguda da aorta torácica, evoluindo a óbito.

Ehlers-Danlos Syndrome (EDS) is a rare inherited connective tissue disease arising from an abnormality of collagen synthesis. The main feature of EDS is the extreme fragility of connective tissues, which can result in uterine rupture, spontaneous intestinal drilling and vascular diseases such as aneurysms, pseudoaneurysms, arterial dissections and spontaneous ruptures. This paper describes the case of an 11-year-old patient who presented a pulsatile mass in the left popliteal fossa after a minor trauma caused by a soccer ball. A pseudoaneurysm of the popliteal artery was diagnosed with arterial Doppler ultrasound and confirmed using angiography. An exploratory investigation revealed that the artery wall was too weak to allow reconstruction and the proximal artery was ligated. The patient developed severe limb ischemia and after authorization by the family the limb was amputated. Two days after surgery, the patient died as a result of acute thoracic aortic dissection.

Cuando sospechar el síndrome de Ehlers-Danlos tipo III, también llamadosindrome de Ehlers-Danlos hipermovible / When to suspect Ehlers-Danlos type III, also known as hypermobile Ehlers-Danlos syndrome

Ehlers-Danlos Syndrome type III is a very frequent disease, with dominant inheritance, that usually goes undiagnosed, due to lack of knowledge of the disease by physicians. In this article we discuss in detail clinical signs and symptoms that will enable doctors to suspect the diagnosis...

El síndrome de Ehlers-Danlos tipo III es una enfermedad hereditaria dominante, muy frecuente, que generalmente no es diagnosticada, debido a falta de conocimiento del tema por parte de los médicos. En este artículo se revisan, en detalle, los signos y síntomas clínicos de la enfermedad con el fin de ayudar al médico a sospechar el diagnóstico...

Del rostro al texto: tras las huellas de la hiperlaxitud y la disautonomía en escritores / From the face to the text: after the fingerprints of the hyperlaxity and the dysautonomia in writers

At present there is a renew interest in delineating diagnostic criteria for the Ehlers-Danlos Syndrome type III (EDS-III), condition than even though is not serious, can produce poor quality of life, due to alteration of various organs and the presence of dysautonomia. The fragility of tissues, that causes the symptomatology, can frequently be reflected in some external signs. In this study, some authors have been selected that present facial signs that are characteristic of this syndrome and gives us the opportunity to look in their texts some tracts of this disease, by looking in their autobiographic texts or in their fiction works. This exercise of free association helps us to have a more complete view of their rich and complex personalities and helps us also to appreciate the importance in detecting and preventing the consequences of this disease, that with an adequate management can produce a notable improvement in the quality of life...

Hoy se está produciendo un renovado interés por afinar los criterios diagnósticos del síndrome de hipermovilidad articular (similar al SED-III), condición que, aunque no suele ser grave, puede traducirse en una mala calidad de vida, por trastornos en diversos órganos y la presencia de disautonomía. La debilidad de los tejidos conectivos, causante de la sintomatología, suele reflejarse también en algunos signos externos. En este estudio se seleccionan algunos escritores que presentan signos en el rostro característicos de este síndrome y que nos dan la oportunidad de buscar entre sus textos algunas pistas de esta enfermedad, ya sea en textos autobiográficos o en sus obras de ficción. Este ejercicio de libre asociación nos ayuda a tener una mirada más completa de sus ricas y complejas personalidades, y nos ayuda también a tomar conciencia de la importancia de detectar y prevenir las consecuencias de esta enfermedad, que con manejo adecuado puede traducirse en una mejoría notable de la calidad de vida...

Internal carotid artery dissection in a patient with Ehlers-Danlos syndrome type IV: diagnosis and management / Disseccção da artéria carótida interna em paciente com síndrome de Ehlers-Danlos tipo IV: diagnóstico e manejo

Ehlers-Danlos syndrome (EDS) type IV, also known as vascular EDS, is an inherited connective tissue disorder with an estimated prevalence of 1/100,000 to 1/250,000. In EDS type IV, vascular complications may affect all anatomical areas, with a preference for large- and medium-sized arteries. Dissections of the vertebral and carotid arteries in their extra- and intra-cranial segments are typical. The authors report the case of a patient with EDS type IV for whom the diagnosis was established based on clinical signs and who developed internal carotid artery dissection at the age of 44 years. In the absence of a specific treatment for EDS type IV, medical interventions should focus on symptomatic relief, prophylactic measures, and genetic counseling. Invasive imaging techniques are contraindicated, and a conservative approach to vascular complications is usually recommended.

A síndrome de Ehlers-Danlos (EDS) tipo IV, também conhecida como EDS tipo vascular, é uma doença genética do tecido conjuntivo com prevalência estimada entre 1/100.000 e 1/250.000. Na EDS tipo IV, as complicações vasculares podem afetar todas as áreas anatômicas, com comprometimento preferencial de artérias de médio e grande diâmetros. Dissecções das artérias vertebrais e carótidas em seus segmentos intra e extracranianos são típicas. Os autores relatam o caso de uma paciente com EDS tipo IV na qual o diagnóstico sindrômico foi realizado com base nos achados clínicos e que desenvolveu dissecção da artéria carótida interna aos 44 anos. Na ausência de um tratamento específico para EDS tipo IV, a intervenção médica deve ser voltada para o tratamento sintomático, para medidas profiláticas e para o aconselhamento genético. Técnicas de imagem invasivas são contraindicadas e, geralmente, recomenda-se uma abordagem conservadora ao cuidar das complicações vasculares.

Síndrome de Ehlers-Danlos tipo III, llamado también síndrome de hiperlaxitud articular (SHA): epidemiología y manifestaciones clínicas / Ehlers-Danlos syndrome type III, also called joint hypermobility síndrome (JHS): epidemiology and clinical manifestations

El Síndrome de Ehlers-Danlos tipo III (SED-III), también llamado Síndrome de Hiperlaxitud Articular (SHA), es una enfermedad de los tejidos conectivos, muy frecuente y poco diagnosticada. Es debido a una alteración genética del colágeno que genera lesiones músculo-esqueléticas y extra-esqueléticas (hernias, várices, prolapso genital o rectal, miopía). Frecuentemente produce disautonomia en mujeres adolescentes, osteoporosis y osteoartritis precoz en ambos sexos. En este artículo hacemos un detallado análisis de los síntomas y signos que permiten sospechar el diagnóstico, recalcando la importancia de identificar la facies típica del SHA, lo que con experiencia es tan fácil como reconocer una persona con Síndrome de Down. Se destaca también la necesidad de usar el nombre de Ehlers-Danlos tipo III en vez de Síndrome de Hiperlaxitud Articular (SHA).

Ehlers-Danlos Syndrome (EDS-III), also called Joint Hypermobility Syndrome (JHS), is a connective tissue disease extremely frequent and usually undiagnosed. It is due to a genetic alteration of the collagen, generating musculoskeletal as well as extra-skeletal manifestations (hernias, varicose veins, genital and rectal prolapse, myopia). It causes dysautonomia, frequently in young adolescents girls, as well as osteoporosis and early osteoarthritis in both sexes. In this study, we make a detailed analysis of the manifestations and symptoms that permit a diagnostic suspicion, stressing the importance of being able to identify the typical JHS facies, which, with experience, is as easy to recognize as a person with Down Syndrome. We also stress the need to use the term Ehlers-Danlos type III (EDS-III), rather than Joint Hypermobility Syndrome (JHS).

Síndrome de Ehlers-Danlos con especial énfasis en el síndrome de hiperlaxitud articular: [revisión] / Ehlers-Danlos syndrome, with special emphasis in the joint hypermobility syndrome: [review]

There is an urgent need to increase the awareness on the Joint Hyper mobility Syndrome QHS). This is a congenital and prevalent emergent condition that is frequently undiagnosed and that causes significant health problems. Besides recurrent muscular-skeletal problems and signs and symptoms derived from tissue fragility, adolescents and young adults may develop osteoporosis, early osteoarthritis or dysautonomia, that are common in the disease, and deteriorate quality of life. Many JHS patients have signs and symptoms suggestive of fibromyalgia and are usually misdiagnosed. Physicians should be able to differentiate the less severe form of JHS from the Vascular Ehlers-Danlos Syndrome, to diagnose it before the appearance of serious complications and even death. The study of these diseases is a promising area for genomic and rheumatologic research.

Síndrome de Ehlers-Danlos: presentación de un caso / Ehlers-Danlos syndrome: presentation of a case

En este trabajo se realizó la presentación de un caso afectado con el Síndrome de Ehlers- Danlos, identificado en la consulta de Genética Clínica. Teniendo en cuenta la importancia y severidad de algunas de sus formas, y que el diagnóstico, en ocasiones, de las formas más leves no se realiza, se revisó la bibliográfica actualizada sobre esta patología para la mejor comprensión del caso.

We present a case of a patient affected by the Ehlers-Danlos syndrome, identified at the Genetic Clinic consultation. Taking into account the importance and severity of some of its forms, and that sometimes the mildest forms are not diagnosed, we carried out an up-dated bibliographic review on this pathology for a better comprehension of the case.

Síndrome de Ehlers-Danlos Vascular (SEDV), antes llamado SED tipo IV / Vascular Ehlers-Danlos syndrome

El Síndrome de Ehlers-Danlos Vascular (SEDV) es una enfermedad genética poco frecuente, pero que es necesario conocer, ya que puede causar complicaciones graves y a veces fatales. Se debe a una alteración del colágeno, que es el que forma la matriz de todos los tejidos, la que causa debilidad de las arterias, y tejidos de diferentes órganos y se caracteriza por hematomas frecuentes, aneurismas y rupturas arteriales, como también, rupturas del colon, del útero grávido y neumotórax espontáneo. Al igual que otros tipos de SED, el SEDV puede tener piel laxa, artralgias e hipermovilidad articular, pero ésta en menor grado. Ya que ésta es una enfermedad infrecuente y no bien conocida por los médicos, en la mayoría de los casos el diagnóstico no se hace sino cuando se produce una complicación severa. El conocer el diagnóstico con anterioridad puede salvar la vida del enfermo.

Vascular Ehlers-Danlos Syndrome (VEDS) is a rare but important genetic disease, since it can cause serious and even fatal complications. It is due to an alteration of the collagen that forms the matrix of all tissues. Its alteration causes weakness of arteries and tissues of different organs, and is characterized by frequent hematomas, arterial aneurisms and arterial ruptures, as well as damage to organs (colon rupture, uterine rupture during labor and spontaneous pneumothorax). Like other types of EDS, VEDS can have lax skin, arthralgias and, to a lesser degree, joint hypermobility. Since this is an infreSíndrome clquent disease and not well known by physicians, diagnosis in most cases is not made until a severe complication occurs. Knowing the diagnosis in advance can save the patient’s life.

Síndrome de Ehlers-Danlos associada a anomalias de artérias pulmonares e sistemicas / Ehlers-Danlos syndrome associated by anomalies of systemic and pulmonare arteries

A síndrome de Ehlers-Danlos é um distúrbio hereditário raro do tecido conjuntivo resultando em grande flexibilidade das articulações, hérnia inguinal, aumento da elasticidade da pele e lesões do sistema cardiovascular, envolvendo o coração e artérias sistêmicas e pulmonares. Neste artigo relata-se o caso de um menino com diagnóstico prévio da síndrome que em avaliação pré-operatória de hérnia inguinal tinha sintomas de dispnéia e sopro, ao ecocardiograma Doppler foram observados sinais de estenoses do ramo esquerdo da artéria pulmonar. A angiografia pulmonar confirmou anomalias significativas e foi realizada angioplastia, entretanto, o paciente voltou a ter sintomas sendo então realizado tratamento cirúrgico. O paciente evoluiu com melhora clínica significativa e modificação do padrão de fluxo das artérias pulmonares avaliado pela ecocardiografia Doppler.