scholarly journals Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

Genes ◽  
2019 ◽  
Vol 10 (9) ◽  
pp. 631 ◽  
Author(s):  
Ritelli ◽  
Cinquina ◽  
Giacopuzzi ◽  
Venturini ◽  
Chiarelli ◽  
...  
Keyword(s):  
Variable Degree ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Pathogenic Variants ◽  
Phenotypic Spectrum ◽  
Desbuquois Dysplasia ◽  
Heart Malformation ◽  
Danlos Syndrome ◽  
Heritable Connective Tissue Disorders

The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region. Biallelic variants in XYLT1 and XYLT2, encoding xylosyltransferases, are associated with Desbuquois dysplasia type 2 and spondylo-ocular syndrome, respectively. Defects in B4GALT7 and B3GALT6, encoding galactosyltransferases, lead to spondylodysplastic Ehlers-Danlos syndrome (spEDS). Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Herein, we report on a 13-year-old girl with a clinical presentation suggestive of spEDS, according to the 2017 EDS nosology, in whom compound heterozygosity for two B3GAT3 likely pathogenic variants was identified. We review the spectrum of B3GAT3-related disorders and provide a comparison of all LK patients reported up to now, highlighting that LKs are a phenotypic continuum bridging EDS and skeletal disorders, hence offering future nosologic perspectives.

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 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.

Psychiatric Manifestations of Ehlers-Danlos Syndrome in Adolescents: A Case Report and Literature Review

2020 ◽  
Vol 16 ◽  
Author(s):  
Daisy Vyas Shirk ◽  
Sarah D. Williams
Keyword(s):  
Chronic Pain ◽  
Literature Review ◽  
Literature Search ◽  
Web Search ◽  
Psychiatric Symptoms ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Symptoms Of Depression ◽  
Psychiatric Manifestations ◽  
Danlos Syndrome

Background: Ehlers-Danlos Syndromes (EDS) comprise a group of heterogeneous hereditary connective tissue disorders [1, 2]. Psychiatric disorders such as depression, anxiety, panic disorder, agoraphobia, schizophrenia, neurodevelopmental disorders, personality disorder, eating disorders, substance misuse and interpersonal issues have been reported in the literature to be associated with EDS [1-3]. Objectives: The case of a 15-year -old male who was hospitalized after a suicide attempt by gunshot was discovered to have symptoms suggestive of EDS is presented in this paper along with the results of a literature search of psychiatric manifestations of EDS in children and adolescents. Methods: Literature review was conducted on the UpToDate website on March 11, 2020 to review symptoms of EhlersDanlos Syndrome for the purpose of preliminary diagnosis of this patient. Additional literature search was conducted on PubMed on 4/2/20 at 12:10 P.M. and on 4/9/20 at 10:51 P.M. and on the search engine Google on 4/2/20 at 12:25 P.M. On May 11, 2020 at 2 P.M., another web search was conducted with review of 6 different websites pertaining to EhlersDanlos Syndrome. Results: A systematic review of psychiatric manifestations of Ehlers-Danlos Syndromes revealed a strong incidence of psychiatric symptoms. Conclusion: Our patient’s psychiatric symptoms of depression, suicidal ideations, anxiety and social and educational struggles may have been at least partially due to chronic pain- abdominal, headache and musculoskeletal, and social ostracization associated with Ehlers-Danlos Syndrome. Education regarding this illness helped our patient’s recovery as he came to understand why he was so “odd” and the cause of his multisystemic chronic pain.

scholarly journals Pain Symptomatology and Management in Pediatric Ehlers–Danlos Syndrome: A Review

Children ◽  
2020 ◽  
Vol 7 (9) ◽  
pp. 146
Author(s):  
Estée C. H. Feldman ◽  
Daniel P. Hivick ◽  
P. Maxwell Slepian ◽  
Susan T. Tran ◽  
Pradeep Chopra ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Psychological Interventions ◽  
Pediatric Pain ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Major Criterion ◽  
Pain Characteristics ◽  
The Relationship ◽  
Danlos Syndrome

Ehlers–Danlos syndromes (EDS) are a group of connective tissue disorders that manifest with hyperextensibility of joints and skin, and general tissue fragility. While not a major criterion for clinical diagnosis, pain is a frequently endorsed symptom across subtypes of EDS. As such, the present review aims to summarize research to date on pain characteristics and management, and the relationship between such pain symptomatology and quality of life in pediatric EDS. Characteristics of pain, including theorized etiology, relative intensity and extent of pain are described, as well as descriptions of frequently endorsed pain sites (musculoskeletal, and non-musculoskeletal). Interventions related to the management of musculoskeletal (e.g., pharmaceutical intervention, physical therapy) and non-musculoskeletal pain (e.g., pharmaceutical and psychological interventions) are discussed, highlighting the need for additional research related to pediatric pain management in the context of hypermobility syndromes. In addition, the relationship between pain in pediatric EDS and quality of life is described. Finally, limitations of literature to date are described and recommendations for future lines of research are outlined.

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 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.

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