Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).

Barabas, A. P.

doi:10.1136/bmj.2.5552.612

Cited by 169 publications

(61 citation statements)

References 4 publications

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“…The vascular type of EDS, previously called EDS type IV or the arterial-ecchymotic type of Sack-Barabas (Sack, 1936;Barabas, 1967), is an autosomal dominant disorder that is caused by structural defects in the proa1(III) chain of type III collagen, encoded by the COL3A1 gene. Of all EDS subtypes, it has the worst prognosis because of the risk of potentially fatal vascular and intestinal complications.…”

Section: Ehlers-danlos Syndrome Vascular Typementioning

confidence: 99%

“…The bleeding tendency may lead to extensive haematological evaluation, with the usual result that no abnormality is identified. The RumpelLeede (or Hess) test may be positive, indicating capillary fragility (Barabas & Barabas, 1967;Anstey et al, 1991). Other early manifestations include obstetric problems, such as premature rupture of the membranes, congenital club foot or congenital hip dislocation.…”

Section: Ehlers-danlos Syndrome Vascular Typementioning

confidence: 99%

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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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Section: Ehlers-danlos Syndrome Vascular Typementioning

confidence: 99%

Section: Ehlers-danlos Syndrome Vascular Typementioning

confidence: 99%

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

2004

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“…Originally considered one disease (Ehlers, 1901;Johnson and Falls, 1949), two (McKusick, 1959), three (Barabas, 1967), five (Barabas, 1967), and then seven abnormalities Pinnell et al, 1972) have been recognised. Even this classification is incomplete and we have recently studied a probable eighth clinical type (Pope, 1977).…”

Section: Ehlers-danlos Syndromementioning

confidence: 99%

Molecular abnormalities of collagen

Pope¹,

Nicholls²

1978

J Clin Pathol

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“…2], is char EDS Type IV. EDS type IV, also called the ecchymotic type, was first described by Sack [31] and Barabas [32]. It is relatively rare and I & differs from most EDS types.…”

Section: Eds Types I Ii and Iiimentioning

confidence: 99%

Molecular Defects in Inborn Disorders of Collagen Metabolism

Kirsch¹,

Ihme²,

Müller³

et al. 1982

Enzyme

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Disturbances of collagen metabolism may result in the manifestation of clinical symptoms. The collagen disorders best characterized are genetically inherited and are known to vary at the clinical and molecular levels. Defective posttranslational modifications of collagen chains due to mutant enzymes have been found in patients with the Ehlers-Danlos syndrome and cutis laxa. Altered selection of collagen types and defective primary structure of the molecules themselves are prominent features in osteogenesis imperfecta. In other pathological conditions, such as Marfan syndrome, no clear molecular defect has been identified as yet.

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Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).

Cited by 169 publications

References 4 publications

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

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

Molecular abnormalities of collagen

Molecular Defects in Inborn Disorders of Collagen Metabolism

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