Ehlers-Danlos syndrome, clotting disorders and muscular dystrophy.

Bertin, Philippe; Trèves, R; Juliá, Antonio; Gaillard, Solange; Desproges-Gotteron, R

doi:10.1136/ard.48.11.953

Cited by 20 publications

(11 citation statements)

References 8 publications

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“…The specific details surrounding the role of platelet dysfunction in EDS‐related bleeding have been variable. One description of EDS patients includes co‐occurring joint hypermobility, thin skin, easy bruising, low factor VIII levels, low VWF and associated platelet aggregation defects . More recently, it has been shown that patients with vascular EDS have a platelet dysfunction, although this was studied only in a small cohort of patients and will need to be tested in a larger group of patients .…”

Section: Bleeding and Bruising In The Hypermobile Patientmentioning

confidence: 99%

“…One description of EDS patients includes co-occurring joint hypermobility, thin skin, easy bruising, low factor VIII levels, low VWF and associated platelet aggregation defects. 39 More recently, it has been shown that patients with vascular EDS have a platelet dysfunction, although this was studied only in a small cohort of patients and will need to be tested in a larger group of patients. 40 A recent comprehensive study described significant platelet function abnormalities in patients with EDS and the absence of any consistent coagulation defect including thrombin generation.…”

Section: Platelet Dysfunction and Ehlers-danlos Syndromementioning

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: Platelet Dysfunction and Ehlers-danlos Syndromementioning

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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“…Balance disturbances reported by the patient resulted from gravity-induced changes in spinal curvature caused by low muscle tone and hypermobility in spinal joints 6 . Insufficient muscular stabilization of the spine was indirectly responsible for development of hyperkyphosis.…”

Section: To the Editormentioning

confidence: 91%

Atypical Symptom of Ehlers-Danlos Syndrome Impeding Diagnosis: Feeling of Spinal Instability

Gasik¹,

T²

2009

J Rheumatol

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“…Furthermore, many reports exist in which different forms of EDS have been associated with more or less well-characterized platelet or coagulation dysfunctions, including platelet aggregation dysfunction and prolonged bleeding time (Kashiwagi et al, 1965;Estes, 1968;Onel et al, 1973;Uden, 1982;Chouza et al, 1984;Anstey et al, 1991;Cunniff & Williamson-Kruse, 1995), platelet delta-storage pool disease (Espanol et al, 1998), deficiency of factor VIII (Clough et al, 1979;Bertin et al, 1989), factor IX (Gamba et al, 1986), factor XI (Anstey et al, 1991), factor XII (Fantl et al, 1961) and factor XIII (Anstey et al, 1991) and platelet sensitivity to aspirin (Grenko et al, 1993). These are, however, sporadic findings and are likely to be chance associations where the platelet or coagulation dysfunctions may have added to the bleeding tendency of an underlying EDS, thus prompting clinical investigation.…”

Section: Bleeding and Bruising In Other Subtypes Of Eds And Other Dismentioning

confidence: 99%

Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders

2004

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SummaryEasy bruising and bleeding are not only characteristic manifestations of clotting and platelet disorders, they are also prominent features in some heritable collagen disorders, such as the Ehlers-Danlos syndromes (EDS). The EDS comprise a heterogeneous group of connective tissue diseases sharing clinical manifestations in skin, ligaments and joints, blood vessels and internal organs. Most EDS subtypes are caused by mutations in genes encoding the fibrillar collagens type I, III and V, or in genes coding for enzymes involved in the posttranslational modification of these collagens. Easy bruising is, to a variable degree, present in all subtypes of EDS, and is because of fragility of the capillaries and the perivascular connective tissues. Vascular fragility affecting medium-sized and large arteries and veins is typically observed in the vascular subtype of EDS, caused by a molecular defect in collagen type III, an important constituent of blood vessel walls and hollow organs. Extensive bruising, spontaneous arterial rupture, leading to severe internal bleeding or premature death, and rupture of hollow organs, such as the intestine or the gravid uterus are predominant features of this subtype. Haematological studies including evaluation of clotting factors, platelet aggregation and bleeding time are usually normal in patients with EDS, except for the Hess test (Rumple-Leede test), which may be abnormal, indicating capillary fragility. In some forms of EDS confirmation of the clinical diagnosis and subtype is possible with biochemical and molecular studies.

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Ehlers-Danlos syndrome, clotting disorders and muscular dystrophy.

Cited by 20 publications

References 8 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

Atypical Symptom of Ehlers-Danlos Syndrome Impeding Diagnosis: Feeling of Spinal Instability

Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders

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