Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

D’hondt, Sanne; Damme, Tim Van; Malfait, Fransiska

doi:10.1038/gim.2017.138

Cited by 69 publications

(74 citation statements)

References 131 publications

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“…These complications are categorized into haematomas, intracranial haemorrhage, arterial dissections, arterial aneurysms, GI bleeding and perioperative haemorrhage. Bruising is often thought of as a mild symptom and is present in many patients with EDS . For women, heavy menstrual bleeding is a commonly reported symptom .…”

Section: Bleeding and Bruising In The Hypermobile Patientmentioning

confidence: 99%

“…Bruising is often thought of as a mild symptom and is present in many patients with EDS. 9 For women, heavy menstrual bleeding is a commonly reported symptom. 10,11 However, experience suggests that it may not be possible to distinguish clinically the aetiology of haematomas, bleeding into organs and perioperative bleeding.…”

Section: B Leed Ing and B Ru Is Ing In The Hypermob Ile Patientmentioning

confidence: 99%

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An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

2019

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It has long been hypothesized that bleeding symptoms in people with hypermobility occur as a result of abnormalities in the collagen of the vessel wall or the connective tissues. The bleeding symptoms, particularly in the skin, have been attributed to the fragility of skin and blood vessels caused by “defective collagen wickerwork” of the reticular layer of the skin. Collagen, which forms the framework of vessel walls, is altered in many patients with Ehlers‐Danlos syndrome (EDS) leading to weakening of the vessel wall or the supporting tissues. Another important function of subendothelial collagen is its interaction with platelets and von Willebrand factor, which results in the propagation of a platelet plug. Thus, abnormalities in subendothelial collagen may alter its interaction with platelets and VWF. More recently, hypermobile‐EDS (hEDS) has been associated with mast cell disorders, a condition independently associated with bleeding symptoms. It has also been observed that patients with mild bleeding disorders have a more severe bleeding phenotype when they have co‐existing joint hypermobility.

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Section: Bleeding and Bruising In The Hypermobile Patientmentioning

confidence: 99%

Section: B Leed Ing and B Ru Is Ing In The Hypermob Ile Patientmentioning

confidence: 99%

An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

2019

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“…Dissections are rarer in other subtypes. In particular, the kyphoscoliotic type (type VI) is associated with the formation of arterial aneurysms and ruptures [48].…”

Section: Ehlers-danlos Syndromementioning

confidence: 99%

Current and Emerging Imaging Techniques in Patients with Genetic Aortic Syndromes

Weinrich

Lenz

Girdauskas³

et al. 2019

Fortschr Röntgenstr

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Background Patients with genetic aortic syndromes such as Marfan or Loeys-Dietz syndrome have a decreased life expectancy due to the risk of aortic dissection and rupture. Imaging plays an important role in the acute setting but also in the initial diagnosis and image-based monitoring. In this article, we provide an overview of the most common genetic aortic syndromes and recommended imaging strategies. Furthermore, we highlight modern imaging methods allowing for the quantification of hemodynamic changes in aortic disease. Method This is a narrative review article on genetic aortic syndromes and recommended imaging strategies, where we take into account expert opinions and standard-of-care practices from our own center. Results and Conclusion Radiological imaging plays a key role in the initial diagnosis and surveillance of patients with genetic aortic syndromes. Radiologists contribute significantly to the multi-disciplinary setting of genetic aortic syndromes with knowledge of special features and recommended imaging methods. Accurate measurement of the aorta is crucial, particularly in terms of diameter-based surgical treatment algorithms. Modern imaging methods like 4D-flow MRI and pulse wave velocity have a potential to further improve individualized risk stratification in patients with genetic aortic syndromes. Key points: Citation Format

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“…Az új nozológiában mindegyik klinikai altípust major és minor kritériumok alapján definiálták, melyek között azonban nagy az átfedés és ezek alapján sokszor az altípusok elkülönítése egymástól nehézséget okoz. (15,16).…”

Section: Kulcsszavak: Ehlers-danlos Szindrómanemlineáris Mikroszkópiaunclassified

Genetic analysis and nonlinear opical imaging of vascular Ehlers-Danlos syndrome

Kiss¹,

Dermatooncology²,

Bozsányi³

et al. 2019

BVSZ

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ÖSSZEFOGLALÁS Key words: Ehlers-Danlos syndromenonlinear microscopy -collagen structureAz Ehlers-Danlos szindróma (EDS) jellemzőit mutató betegekről már Hippokratész is említést tett "A levegőről, a vizekről és a helyekről" című művében, a szindróma első pontos leírására azonban csak a XX. század elején került sor Edvard Ehlers és Henri-Alexandre Danlos által (1). Az EDS örökletes kötőszöveti betegségek heterogén csoportja, mely-re ízületi hipermobilitás, bőr hiperextenzibilitás és általános szöveti fragilitás jellemző számos egyéb eltérés mellett. Gyakori szövődményei a különböző mértékű ízületi ficamok, a lassú sebgyógyulás, és az életminőséget talán a leginkább rontó fájdalom (2). Az EDS ún. ritka betegség, amely 5000 emberből egyet érint világszerte (3).

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Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

Cited by 69 publications

References 131 publications

An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

Current and Emerging Imaging Techniques in Patients with Genetic Aortic Syndromes

Genetic analysis and nonlinear opical imaging of vascular Ehlers-Danlos syndrome

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