Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

Busch, Albert; Hoffjan, Sabine; Bergmann, F.; Hartung, Birgit; Jung, Helena; Hanel, Daniela; Tzschach, Andeas; Kadar, J; Kodolitsch, Yskert Von; Germer, Christoph‐Thomas; Trobisch, H.; Strasser, Erwin; Wildenauer, René

doi:10.1186/s13023-016-0491-2

Cited by 33 publications

(23 citation statements)

References 42 publications

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“…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 . 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: Bleeding and Bruising In The Hypermobile 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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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%

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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“…More recently, a study of 25 pediatric patients with hEDS showed that 56% of them had an abnormal bleeding score obtained with the Pediatric Bleeding Questionnaire (based on the BAT‐ISTH), but coagulation and platelet function were not investigated . Another study of 22 patients with vEDS showed platelet aggregation abnormalities in 50% of them, but the laboratory methods used by the authors (rotational thromboelastrometry or Platelet Function Analyser‐100) are less accurate than the light transmission aggregometry used by us, which is the gold standard method for investigating platelet aggregation . Three other studies applied the BAT‐ISTH score to predict platelet dysfunction in patients with bleeding diathesis and suspected inherited platelet function abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Hemostatic abnormalities in patients with Ehlers–Danlos syndrome

Artoni

Bassotti

Abbattista

et al. 2018

Journal of Thrombosis and Haemostasis

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Martinelli I. Hemostatic abnormalities in patients with Ehlers-Danlos syndrome. J Thromb Haemost 2018; 16: 2425-31. Essentials • Ehlers-Danlos Syndrome (EDS) is a rare heterogeneous group of inherited collagen disorders. • A cohort of EDS patients was investigated for bleeding tendency and hemostatic abnormalities. • EDS is associated with an increased risk of bleeding. • EDS patients have platelet function abnormalities, whose severity correlates with bleeding risk. Summary. Background: Ehlers-Danlos syndrome (EDS) includes a heterogeneous group of connective tissue disorders affecting skin, bones, vessels, and other organs. Patients with EDS have an increased risk of bleeding, but a comprehensive study of hemostasis in EDS patients is lacking. Objective: To investigate the bleeding tendency of a cohort of patients with EDS by using the Bleeding Assessment Tool of the ISTH, the bleeding severity score (BSS). Methods: The BSS was defined as abnormal when it was ≥ 4 in men and ≥ 6 in women. Patients with a bleeding tendency were compared with those without in terms of type and number of hemostatic abnormalities. Results: Fifty-nine of 141 patients with EDS (41.7%) had an abnormal BSS. Prothrombin time and activated partial thromboplastin time were slightly prolonged in 10 patients (7.1%) because of mild coagulation factor deficiencies, which were not responsible for the bleeding diathesis. von Willebrand factor antigen, ristocetin cofactor, endogenous thrombin potential and platelet count were normal in all patients. At least one platelet function abnormality was found in 53 patients (90%) with an abnormal BSS and in 64 (78%) with a normal BSS (adjusted odds ratio [OR] 2.55, 95% confidence interval [CI] 0.87-7.48). The risk of bleeding progressively increased with the number of platelet function abnormalities, reaching an OR of 5.19 (95% CI 1.32-20.45) when more than three abnormalities were detected. Conclusions: Our results show that nearly half of patients with EDS have an abnormal BSS, which, in 90% of cases, appear, at least in part, to be attributable to platelet function abnormalities. Abnormalities of primary hemostasis may contribute to the risk of bleeding in patients with EDS.

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“…In addition, it is interesting to note that the Ehlers-Danlos syndrome, another connective tissue disease which may be accompanied by aortic dilatation, can be associated with platelet dysfunction [373][374][375]. Platelet dysfunction could be found in Marfan patients as well, analyzed by the Multiplate and PFA 100 tests [353].…”

Section: Platelet Dysfunctionmentioning

confidence: 99%

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Kodolitsch

Demolder

Girdauskas

et al. 2019

Expert Review of Cardiovascular Therapy

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Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive-and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome. ARTICLE HISTORY

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Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

Cited by 33 publications

References 42 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

Hemostatic abnormalities in patients with Ehlers–Danlos syndrome

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

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