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1.
Rev. chil. reumatol ; 32(4): 123-130, 2016. ilus
Artigo em Espanhol | LILACS | ID: biblio-982836

RESUMO

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).


Assuntos
Humanos , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/terapia , Diagnóstico Diferencial , Instabilidade Articular , Síndrome de Marfan , Disautonomias Primárias
2.
Rev. chil. reumatol ; 32(2): 40-48, 2016. ilus
Artigo em Espanhol | LILACS | ID: biblio-869812

RESUMO

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.


Assuntos
Humanos , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Morte Súbita , Diagnóstico Diferencial , Fístula Arteriovenosa/etiologia , Instabilidade Articular/complicações , Síndrome de Ehlers-Danlos/terapia
3.
Rev. chil. reumatol ; 31(3): 173-180, 2015. ilus
Artigo em Espanhol | LILACS | ID: lil-776863

RESUMO

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...


Assuntos
Humanos , Avaliação de Sintomas , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/fisiopatologia , Fibromialgia , Disautonomias Primárias
4.
Rev. chil. reumatol ; 28(3): 152-158, 2012. ilus
Artigo em Espanhol | LILACS | ID: lil-691037

RESUMO

La disautonomía es una condición médica frecuente que, por lo general, cursa sin ser diagnosticada y es causa de fatiga crónica, mareos, desmayos y mala calidad de vida. estos enfermos muchas veces peregrinan de médico en médico, se les hacen múltiples exámenes, se plantean múltiples hipótesis, pero el diagnóstico preciso no se hace, ya que no se tiene en cuenta la disautonomía. Ésta frecuentemente se asocia al Síndrome de Hiperlaxitud Articular, que es una de las alteraciones hereditarias de la fibra colágena que es muy prevalente en Chile. El tratamiento, que es muy eficaz, suele fallar, ya que los enfermos temen tomar muchos líquidos y aumentar la sal y por miedo a los mineralocorticoides.


Dysautonomia is a frequent medical condition which goes undiagnosed and produces chronic fatigue, dizziness, syncope and poor quality of life. It is usually seen in association with the Joint Hypermobility Syndrome. Patients with Dysautonomia perambulate from physician to physician, get multiple tests, are given different medical hypothesis, but the precise diagnosis is not made. Even though there is a good treatment, the results are not as good as expected, because the patients are concerned about taking too much salt and water and are afraid of mineralocorticoids.


Assuntos
Humanos , Disautonomias Primárias/diagnóstico , Disautonomias Primárias/terapia , Síndrome de Fadiga Crônica , Instabilidade Articular , Sinais e Sintomas
5.
Rev. chil. reumatol ; 26(2): 194-202, 2010. tab, ilus
Artigo em Espanhol | LILACS | ID: lil-572123

RESUMO

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).


Assuntos
Humanos , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/patologia , Diagnóstico Diferencial , Instabilidade Articular/diagnóstico , Sinais e Sintomas , Síndrome de Ehlers-Danlos/classificação
6.
Rev. méd. Chile ; 137(11): 1488-1497, nov. 2009. tab, ilus
Artigo em Espanhol | LILACS | ID: lil-537014

RESUMO

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.


Assuntos
Adolescente , Humanos , Adulto Jovem , Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/diagnóstico , Diagnóstico Diferencial , Fácies , Instabilidade Articular/congênito , Síndrome , Adulto Jovem
7.
Rev Med Chil ; 137(11): 1488-97, 2009 Nov.
Artigo em Espanhol | MEDLINE | ID: mdl-20098810

RESUMO

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.


Assuntos
Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/diagnóstico , Adolescente , Diagnóstico Diferencial , Fácies , Humanos , Instabilidade Articular/congênito , Síndrome , Adulto Jovem
8.
Arthritis Rheum ; 54(2): 515-23, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16447226

RESUMO

OBJECTIVE: To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS). METHODS: Two hundred forty-nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked. RESULTS: The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the "hand holding the head sign" were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%). CONCLUSION: JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile.


Assuntos
Síndrome de Ehlers-Danlos/genética , Fácies , Instabilidade Articular/genética , Articulações/anormalidades , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Chile/epidemiologia , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/epidemiologia , Feminino , Humanos , Instabilidade Articular/diagnóstico , Instabilidade Articular/epidemiologia , Articulações/fisiopatologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Transtornos da Pigmentação/patologia , Esclera/anormalidades , Síndrome
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