Type IV Ehlers-Danlos syndrome with platelet δ -storage pool disease

Español, Ignacio; Hernández, Ángel San Miguel; Pujol, Roser; Urrutia, Teresa; Pujol-Moix, Núria

doi:10.1007/s002770050410

Cited by 10 publications

(11 citation statements)

References 13 publications

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“…While platelet function defects constitute a common cause of bleeding disorders, they are usually a mild phenotype. However, platelet dysfunction in association with EDS may exaggerate the bleeding phenotype . The specific details surrounding the role of platelet dysfunction in EDS‐related bleeding have been variable.…”

Section: Bleeding and Bruising In The Hypermobile Patientmentioning

confidence: 99%

“…However, platelet dysfunction in association with EDS may exaggerate the bleeding phenotype. 37,38 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.…”

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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“…Taking into account the data from these case series and from other numerous smaller series and case reports [6,21,23,36,45,[51][52][53][54][55][56][57][58][59][60][61][62], inherited disorders of platelet function that usually respond with a shortening of BT after DDAVP administration include defects of secretion (in particular other than d-storage pool deficiency) and of signal transduction and the May-Hegglin anomaly; an effect has been variably reported in Bernard-Soulier syndrome and rarely shown in GlanzmannÕs thrombasthenia and cyclo-oxygenase deficiency ( Table 3). The response may be broadly predicted by the BT at baseline, perhaps indicating that desmopressin is less useful in more severe platelet function abnormalities showing longer BT.…”

Section: Clinical Evidence Of Ddavp In Inherited Disorders Of Platelementioning

confidence: 99%

Desmopressin in inherited disorders of platelet function

Coppola

Minno

2007

Haemophilia

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Following the first clinical use in haemophilia and von Willebrand disease in 1977, the synthetic analogue of vasopressin 1-deamino-8-D-arginine vasopressin (DDAVP, desmopressin) was successfully employed for the management of a series of bleeding disorders, including congenital and acquired defects of platelet function. In this setting, few haemostatic approaches are available and, in particular for severe bleeding and major invasive procedures, the transfusion of platelet concentrates is the first-choice treatment. Therefore, DDAVP was (and remains) an attractive therapeutic alternative, being well tolerated, cost-saving, administrable at home (by the intranasal or subcutaneous concentrated formulations) and, in particular, enabling the avoidance of blood product exposition and the related risks (allergic reactions, transfusion transmitted infections). Despite three decades of clinical use, cellular mechanisms of haemostatic effects of DDAVP in platelet defects remain poorly known and the excellent results reported in some case series have not been strengthened by rigorous clinical trials, hampered by the rarity and the heterogeneity of these disorders. However, clinical experience more than evidence-based medicine reserved an established place to DDAVP in the management of inherited platelet disorders. This review will focus the available clinical data and the open issues of DDAVP in this setting.

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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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Type IV Ehlers-Danlos syndrome with platelet δ -storage pool disease

Cited by 10 publications

References 13 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

Desmopressin in inherited disorders of platelet function

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

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