scholarly journals Neurovascular manifestations of connective-tissue diseases: A review

2016 ◽  
Vol 22 (6) ◽  
pp. 624-637 ◽  
Author(s):  
Sarasa T Kim ◽  
Waleed Brinjikji ◽  
Giuseppe Lanzino ◽  
David F Kallmes
Keyword(s):  
Connective Tissue ◽  
Treatment Options ◽  
Connective Tissue Diseases ◽  
Neurofibromatosis Type ◽  
Cerebrovascular Diseases ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Heritable Connective Tissue Disorders

Patients with connective tissue diseases are thought to be at a higher risk for a number of cerebrovascular diseases such as intracranial aneurysms, dissections, and acute ischemic strokes. In this report, we aim to understand the prevalence and occurrences of such neurovascular manifestations in four heritable connective tissue disorders: Marfan syndrome, Ehlers-Danlos syndrome, Neurofibromatosis Type 1, and Loeys-Dietz syndrome. We discuss the fact that although there are various case studies reporting neurovascular findings in these connective tissue diseases, there is a general lack of case-control and prospective studies investigating the true prevalence of these findings in these patient populations. Furthermore, the differences observed in the manifestations and histology of such disease pathologies encourages future multi-center registries and studies in better characterizing the pathophysiology, prevalence, and ideal treatment options of neurovascular lesions in patents with connective tissue diseases.

scholarly journals Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

2011 ◽  
Vol 2011 ◽  
pp. 1-18 ◽  
Author(s):  
Olivier M. Vanakker ◽  
Dimitri Hemelsoet ◽  
Anne De Paepe
Keyword(s):  
Connective Tissue ◽  
Metabolic Disorders ◽  
Type Iv Collagen ◽  
Connective Tissue Diseases ◽  
Haemorrhagic Stroke ◽  
Monogenic Disease ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides arteriopathies and metabolic disorders, several connective tissue diseases can present with stroke. While some of these diseases have been recognized for decades as causes of stroke, such as the vascular Ehlers-Danlos syndrome, others only recently came to attention as being involved in stroke pathogenesis, such as those related to Type IV collagen. This paper discusses each of these connective tissue disorders and their relation with stroke briefly, emphasizing the main clinical features which can lead to their diagnosis.

scholarly journals Classification, nosology and diagnostics of Ehlers-Danlos syndrome

2019 ◽  
Vol 5 (2) ◽  
pp. 34-46
Author(s):  
Ben C J Hamel
Keyword(s):  
New York ◽  
Connective Tissue ◽  
Joint Hypermobility ◽  
Multidisciplinary Teams ◽  
Connective Tissue Disorders ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Skin Fragility ◽  
Danlos Syndrome ◽  
Heritable Connective Tissue Disorders

Ehlers-Danlos syndrome (EDS) comprises a group of heritable connective tissue disorders which has as cardinal features varying degrees of skin hyperextensibility, joint hypermobility, easy bruising and skin fragility. The 2017 New York nosology distinguishes 13 types of EDS, which all, except hypermobile EDS, have a known molecular basis. Hypermobile EDS is recognized as a common and often disabling disorder, incorporating benign joint hypermobility syndrome. EDS needs to be differentiated from other connective tissue disorders, in particular Marfan syndrome, Loeys-Dietz syndrome and cutis laxa. The frequent types of EDS can be diagnosed after careful history taking and clinical examination, but for definite diagnosis molecular confirmation is needed in all types. Management for EDS patients preferably is provided by multidisciplinary teams in expertise centres. After diagnosing EDS genetic counselling is an essential part of the management of patients and their family.

scholarly journals Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 831
Author(s):  
Jessica Warnink-Kavelaars ◽  
Lisanne de Koning ◽  
Lies Rombaut ◽  
Mattijs Alsem ◽  
Leonie Menke ◽  
...  
Keyword(s):  
Connective Tissue ◽  
General Health ◽  
Normative Data ◽  
Self Report ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Validated Questionnaires ◽  
Pain Disability ◽  
Vas Scores ◽  
Heritable Connective Tissue Disorders

Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires. Methods. This observational, multicenter study included 107 children, aged 4–18 years, with Marfan syndrome (MFS), 58%; Loeys-Dietz syndrome (LDS), 7%; Ehlers-Danlos syndromes (EDS), 8%; and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent–Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ). Results. Compared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores (M = 53 (SD = 12), p = 0.004, d = 0.3), pain VAS scores (M = 2.8 (SD = 3.1), p < 0.001, d = 1.27), general health VAS scores (M = 2.5 (SD = 1.8), p < 0.001, d = 2.04) and CHAQ disability index scores (M = 0.9 (SD = 0.7), p < 0.001, d = 1.23). HCTD-subgroups showed similar results. The most adverse sequels were reported in children with hEDS, whereas the least were reported in those with MFS. Disability showed significant relationships with fatigue (p < 0.001, rs = 0.68), pain (p < 0.001, rs = 0.64) and general health (p < 0.001, rs = 0.59). Conclusions. Compared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care.

scholarly journals Respiratory Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

2021 ◽  
Vol 7 (2) ◽  
pp. 1-7
Author(s):  
Christina Parducci ◽  
Keyword(s):  
Systematic Review ◽  
Connective Tissue ◽  
Connective Tissue Disorders ◽  
Respiratory Complications ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

The Ehlers-Danlos Syndromes (EDS) are genetic connective tissue disorders that are currently categorized into 14 subtypes. Symptoms of each subtype overlap, with some distinct manifestations

scholarly journals RARE CAUSES OF SPONTANEOUS PNEUMOTHORAX: TWO CASE REPORTS

2021 ◽  
Vol 19 (2) ◽  
pp. 200-204
Author(s):  
V. Hadzhiminev V. Hadzhiminev
Keyword(s):  
Spontaneous Pneumothorax ◽  
Clinical Laboratory ◽  
Case Reports ◽  
Genetic Disorders ◽  
Surgical Techniques ◽  
Neurofibromatosis Type ◽  
Imaging Findings ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Secondary spontaneous pneumothorax (SSP) may be a result of different rare diseases. In the following article are presented two interesting cases of SSP related to genetic disorders – Ehlers-Danlos syndrome (EDS) and Neurofibromatosis type 1 (NF-1). We share our clinical, laboratory and imaging findings as well as the surgical techniques we used and the postoperative complications we had. We performed a detailed literature review on this topic.

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