Haemothorax in vascular Ehlers-Danlos syndrome

We report the case of a 50-year-old man diagnosed with EDS IV detected incidentally after haemothorax secondary to a coughing spell.ResumenEl síndrome de Ehlers-Danlos de tipo vascular (SED IV) se trata de una rara alteración genética causada por una alteración del gen COL3A1 que codifica el colágeno tipo III. Este es el tipo de colágeno más frecuente en los vasos de mediano calibre y en algunos órganos como intestino y útero. Su alteración produce, entre otros, aneurismas y roturas de vasos y órganos. Para su diagnóstico se requiere de un alto nivel de sospecha clínica. Se trata de una enfermedad de manejo complejo que requiere de un equipo multidisciplinar para tratar las diferentes complicaciones que pueden acontecer.Se presenta el caso de un paciente varón de 50 años diagnosticado de SED IV de forma incidental tras hemotórax secundario a acceso de tos.
Source: Reumatologia Clinica - Category: Rheumatology Source Type: research

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Australian singer/songwriter Sia (born Sia Kate Isobelle Furler), 43, is known for wearing elaborate wigs and headpieces that hide her face. However, the“Chandelier” singer is not hiding the fact that she was recently diagnosed with the connective tissue disorder Ehlers-Danlos syndrome. In a  tweet, Sia wrote:“Hey, I’m suffering with chronic pain, a neurological disease, […]Find jobs at  Careers by KevinMD.com.  Search thousands of physician, PA, NP, and CRNA jobs now.  Learn more.
Source: Kevin, M.D. - Medical Weblog - Category: General Medicine Authors: Tags: Conditions Rheumatology Source Type: blogs
The objective of the study was to compare the acromiohumeral distance (AHD) between patients diagnosed with hypermobility type of the Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD) and healthy controls by evaluating the relative amount the tendon occupies in the subacromial area. Furthermore, the aim was to evaluate if there was a change in AHD with arm elevation within and between groups.
Source: Journal of Shoulder and Elbow Surgery - Category: Orthopaedics Authors: Source Type: research
Superti-Furga Garavelli Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as “linkeropathies”. The two phenotypes related to mutations in genes B4GALT7 and B3GALT6 (encoding for galactosyltransferase I and II respectively) are similar, characterized by short stature, hypotonia, joint hypermobility, skeletal features and a suggestive face with prominent forehead, thin soft tissue and prominent eyes. The most outstanding feature of these disorders is the combination of severe connective tissue in...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Conclusion: Our findings provide valuable basal levels for conducting gene function analysis of joint hypermobility-related connective tissue disorders. PMID: 31594391 [PubMed - as supplied by publisher]
Source: Connective Tissue Research - Category: Research Tags: Connect Tissue Res Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31600821 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
BACKGROUND AND PURPOSE: There is a general assumption in the cerebrovascular literature that there is an association between carotid artery tortuosity and connective tissues disease; however, this has not been firmly established. The purpose of this study was to determine the prevalence of carotid artery tortuosity in patients with connective tissue diseases relative to matched controls. MATERIALS AND METHODS: Patients with previous CTA or MRA and a diagnosis of connective tissue diseases were identified and compared with a cohort of age-matched controls. Radiologists blinded to the diagnosis reviewed the images and evalu...
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: EXTRACRANIAL VASCULAR Source Type: research
Ehlers-Danlos syndrome affects connective tissues that support the skin, bones, blood vessels and other organs and tissues, according to the U.S. National Institutes of Health.
Source: WebMD Health - Category: Consumer Health News Source Type: news
Ehlers-Danlos syndrome affects connective tissues that support the skin, bones, blood vessels and other organs and tissues, according to the U.S. National Institutes of Health.
Source: WebMD Health - Category: Consumer Health News Source Type: news
Abstract Joint hypermobility may be syndromic or nonsyndromic, asymptomatic or symptomatic. However, asymptomatic joint hypermobility can cause repetitive use injury, alter biomechanics, or become symptomatic later in life. Symptomatic joint hypermobility can result from soft tissue injury or muscular strain caused by muscular imbalance. Treatment is straightforward once joint hypermobility is recognized. Generalized joint hypermobility can be assessed using a standardized in-office examination. Generalized joint hypermobility may also be a feature of a heritable connective tissue disorder with other systemic find...
Source: The Medical Clinics of North America - Category: General Medicine Authors: Tags: Med Clin North Am Source Type: research
Lack of familiarity with this connective tissue syndrome can delay diagnosis.
Source: Forbes.com Healthcare News - Category: Pharmaceuticals Authors: Source Type: news
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