4,555 results match your criteria Ehlers-Danlos Syndrome

Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions.

J Am Coll Cardiol 2022 May;79(21):2069-2081

Division of Cardiology, Weill Cornell Medicine, New York, New York, USA.

Background: The GenTAC (Genetically Triggered Thoracic Aortic Aneurysm and Cardiovascular Conditions) Registry enrolled patients with genetic aortopathies between 2007 and 2016.

Objectives: The purpose of this study was to compare age distribution and probability of elective surgery for proximal aortic aneurysm, any dissection surgery, and cardiovascular mortality among aortopathy etiologies.

Methods: The GenTAC study had a retrospective/prospective design. Read More

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Anterior Cruciate Ligament Agenesia in a Patient with Ehlers-Danlos Syndrome and Open Physes.

J Orthop Case Rep 2022 Jan;12(1):26-30

Department of Biomedical Sciences, Humanitas University, Milan, Italy.

Introduction: The agenesis of the anterior cruciate ligament (ACL) is a rare condition infrequently diagnosed as an isolated malformation. Still, it is linked to systemic disorders such as Ehlers-Danlos syndrome (EDS), an inheritable connective tissue disorder characterized by joint hyperlaxity and increased risk of dislocations and subluxations. The literature on ACL reconstruction in EDS patients is minimal, and ours is the second case report describing the surgical management of an ACL agenesis in a patient with this pathology. Read More

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January 2022

Home-based exercise therapy for treating shoulder instability in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. A randomized trial.

Disabil Rehabil 2022 May 24:1-11. Epub 2022 May 24.

Department of Rehabilitation Sciences, Ghent University, Ghent, Belgium.

Purpose: To investigate the effectiveness of two home-based exercise programs for treating multidirectional shoulder instability (MDI) in patients diagnosed with Hypermobile Ehlers-Danlos syndrome (hEDS) or Hypermobility Spectrum Disorders (HSD).

Methods: Twenty-one hEDS/HSD patients with MDI were recruited from the Center for Medical Genetics of the Ghent University Hospital. Patients were randomly assigned to either the experimental or the control group. Read More

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Idiopathic osteoporosis, Ehlers-Danlos syndrome, postural orthostatic tachycardia syndrome, and mast cell activation disorder in a 27-year-old male patient: A unique case presentation.

Cameron Rattray

Clin Case Rep 2022 May 20;10(5):e05887. Epub 2022 May 20.

St. George's University School of Medicine St. George Grenada, West Indies.

A young male patient presents with widespread pain and varying chronic inflammatory symptoms for three years and idiopathic low bone density for more than ten years. Based on the patient's clinical history, the patient has been diagnosed with an hypermobile Ehlers-Danlos syndrome, postural orthostatic tachycardia syndrome, and mast cell activation disorder trifecta with affiliated inflammation-induced osteoporosis. Read More

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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.

Clin Exp Rheumatol 2022 May 18;40 Suppl 134(5):46-62. Epub 2022 May 18.

Centre for Medical Genetics, Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University and Ghent University Hospital, Belgium.

The vast majority of reported (likely) pathogenic missense variants in the genes coding for the fibrillar collagens leads to the substitution of one of the obligatory glycine residues in the Gly-Xaa-Yaa repeat sequence of the triple helical domain. Their phenotypic consequences and deleterious effects have been well-documented. However, with increasing access to molecular diagnostic testing based on next-generation sequencing techniques, such as sequencing of multi-gene panels and whole-exome sequencing, non-glycine substitutions are more frequently identified in individuals suspected to have a heritable collagen disorder, but their pathogenic effect is often difficult to predict. Read More

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Uterine torsion as an elusive obstetrical emergency in pregnancy: is there an association between gravid uterus torsion and Ehlers-Danlos syndrome?: a case report.

J Med Case Rep 2022 May 17;16(1):210. Epub 2022 May 17.

Obstetrics and Gynecology Department, Baharloo Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Background: Timely diagnosis of uterine torsion can lead to acceptable maternal and fetal outcomes. This article presents the case of a 42-year-old pregnant woman, diagnosed with a rare 270° uterine torsion, in whom proper management led to good maternal outcomes but, unfortunately, severe prematurity and metabolic acidosis led to neonatal death. Moreover, the mother was clinically suspected for Ehlers-Danlos syndrome. Read More

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Transcriptome Analysis of Monocytes and Fibroblasts Provides Insights Into the Molecular Features of Periodontal Ehlers-Danlos Syndrome.

Front Genet 2022 28;13:834928. Epub 2022 Apr 28.

Department of Periodontology, Nanjing Stomatological Hospital, Medical School of Nanjing University, Nanjing, China.

Periodontal Ehlers-Danlos syndrome (pEDS) is a rare hereditary disorder characterized by severe early-onset periodontitis with premature tooth loss, pretibial hyperpigmentation, and skin fragility. It is caused by mutant variants in the and genes that result in C4 cleavage and local complement cascade activation, as well as other possible consequences. However, the exact functional consequences of this activation remain unclear. Read More

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Mechanobiology in the Comorbidities of Ehlers Danlos Syndrome.

Front Cell Dev Biol 2022 25;10:874840. Epub 2022 Apr 25.

Department of Biomedical Engineering, Michigan Technological University, Houghton, MI, United States.

Ehlers-Danlos Syndromes (EDSs) are a group of connective tissue disorders, characterized by skin stretchability, joint hypermobility and instability. Mechanically, various tissues from EDS patients exhibit lowered elastic modulus and lowered ultimate strength. This change in mechanics has been associated with EDS symptoms. Read More

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Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.

Am J Med Genet A 2022 May 11. Epub 2022 May 11.

Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan.

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant genetic disorder characterized by soft connective tissue vulnerability due to dysfunction of Type III collagen and caused by the pathogenic variants in COL3A1 gene. In the era of next-generation sequencing, multiple genes including COL3A1 can be simultaneously analyzed, and among patients suffering from aortopathy even without any other clinical features suggestive of vEDS, pathogenic COL3A1 variants have been increasingly identified. Here, we briefly summarize the characteristics of 12 Japanese patients from 11 families with arteriopathy and pathogenic or likely pathogenic COL3A1 variants in our hospital. Read More

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The Underrecognized Conditions of Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders in Women.

Kendall Robbins

Nurs Womens Health 2022 May 6. Epub 2022 May 6.

Hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders are conditions that disproportionately affect women and can result in morbidity, disability, and a poorer quality of life. These conditions are often not recognized by health care professionals, leading to significant delays in diagnosis, especially in women. Hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders are known as complex, multisystemic conditions that are frequently comorbid with autonomic dysfunction, mast cell activation syndrome, and autism. Read More

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Spontaneous small bowel perforation: a rare GI manifestation of type IV Ehlers-Danlos syndrome.

J Surg Case Rep 2022 Apr 30;2022(4):rjac192. Epub 2022 Apr 30.

Department of Trauma and Emergency General Surgery, Geisinger Wyoming Valley Hospital, Wilkes-Barre, PA, USA.

Isolated small bowel perforation is low in the differential diagnosis of abdominal pain in the young, relatively healthy patient. It is, however, a rare manifestation of type IV (vascular) Ehlers-Danlos syndrome (EDS). In addition, there is no general consensus on the management of GI manifestations in patients with type IV EDS. Read More

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[Waxing and waning pulmonary nodules and cavities].

Zhonghua Jie He He Hu Xi Za Zhi 2022 May;45(5):475-479

Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

We reported a case of vascular Ehlers-Danlos syndrome presenting with recurrent pulmonary hemorrhage. A 22-year-old man was admitted for intermittent hemoptysis and chest pain during the past 18 months. Computed tomography of chest showed bilateral nodules and cavities with halo sign. Read More

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Myofascial Flap Closure Decreases Complications in Complex Surgery of the Craniocervical Junction in Ehlers-Danlos Patients.

Ann Plast Surg 2022 05;88(3 Suppl 3):S201-S204

From the New York Presbyterian Hospital-Weill Cornell Medical Center, New York, NY.

Introduction: Patients with Ehlers-Danlos syndrome (EDS) are at elevated risk for soft tissue complications when undergoing decompression with or without fusion of the craniocervical junction. We have previously shown that muscle flap closure can decrease reoperative rates. This study investigated whether myofascial flap closure improved clinical outcomes after simple or complex surgery of the craniocervical junction in EDS patients specifically. Read More

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CAH-X Syndrome: Genetic and Clinical Profile.

Mol Diagn Ther 2022 May 27;26(3):293-300. Epub 2022 Apr 27.

Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden.

The term CAH-X was coined to describe a subset of patients with 21-hydroxylase deficiency displaying a phenotype compatible with the hypermobility type of Ehlers Danlos syndrome. The genetic defect is due to the monoallelic presence of a CYP21A2 deletion extending into the gene encoding tenascin X (TNXB), a connective tissue extracellular matrix protein. The result is a chimeric TNXA/TNXB gene causing tenascin-X haploinsufficiency. Read More

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Case Report: A Novel Mutation Identified in Gene in a Fetus With Structural Abnormalities.

Front Genet 2022 8;13:853907. Epub 2022 Apr 8.

Department of Clinical Laboratory, The Third Affiliated Hospital of Guangxi Medical University, Nanning, China.

Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of clinical symptoms between different EDS subtypes. We performed karyotype analysis, gene copy number variation detection, whole-exome sequencing, and Sanger sequencing to reveal the underlying genetic etiology of a fetus with structural abnormalities in feet and kidneys. Read More

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Thoracoabdominal aortic aneurysm in connective tissue disorder patients.

Indian J Thorac Cardiovasc Surg 2022 Apr 21;38(Suppl 1):146-156. Epub 2022 Feb 21.

Division of Vascular Surgery, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132 Milan, Italy.

Connective tissue disorders (CTDs) are a group of genetically triggered diseases in which the primary defect involves collagen and elastin protein assembly with potential vascular degenerations such as thoracoabdominal aortic aneurysm (TAAA) and dissection. These most commonly include Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, and familial thoracic aortic aneurysm and dissection. Open surgical repair represents the standard approach in this specific group of patients. Read More

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Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.

Genes (Basel) 2022 03 25;13(4). Epub 2022 Mar 25.

Department of Human Pathology in Adulthood and Childhood, University of Messina, Gaetano Martino University Hospital, 98125 Messina, Italy.

Osteogenesis imperfecta/Ehlers-Danlos (OI/EDS) overlap syndrome is a recently described disorder of connective tissue, characterized by mutation of (17q21.33) or (7q21.3) genes, that are involved in α-1 and α-2 chains of type 1 collagen synthesis. Read More

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Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature.

Immunol Res 2022 Apr 21. Epub 2022 Apr 21.

Department of Family Medicine, NYIT College of Osteopathic Medicine, Northern Boulevard, Old Westbury, NY, 11568, USA.

Ehlers-Danlos syndrome (EDS) is a group of related connective tissue disorders consisting of 13 subtypes, each with its own unique phenotypic and genetic variation. The overlap of symptoms and multitude of EDS variations makes it difficult for patients to achieve a diagnosis early in the course of their disease. The most common form, hypermobile type EDS (hEDS) and its variant, hypermobile spectrum disorder (HSD), are correlated with rheumatologic and inflammatory conditions. Read More

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Developing a taxonomy of care coordination for people living with rare conditions: a qualitative study.

Orphanet J Rare Dis 2022 04 20;17(1):171. Epub 2022 Apr 20.

Department of Applied Health Research, University College London, Gower Street, London, WC1E 6BT, UK.

Background: Improving care coordination is particularly important for individuals with rare conditions (who may experience multiple inputs into their care, across different providers and settings). To develop and evaluate strategies to potentially improve care coordination, it is necessary to develop a method for organising different ways of coordinating care for rare conditions. Developing a taxonomy would help to describe different ways of coordinating care and in turn facilitate development and evaluation of pre-existing and new models of care coordination for rare conditions. Read More

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Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome: A case-control study.

Eur J Pain 2022 Apr 20. Epub 2022 Apr 20.

Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.

Background: The hypermobile type of Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder, associated with joint hypermobility and prominent chronic pain. Because experimental pain testing in hEDS is scarce, the underlying mechanisms are still poorly understood.

Objective: The present study assesses endogenous pain facilitation and pain inhibition in hEDS, using a protocol for temporal summation of pain (TSP), conditioned pain modulation (CPM) and exercise-induced hypoalgesia (EIH). Read More

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Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome.

Physiol Rep 2022 04;10(8):e15275

Department of Physiology & Cell Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

The Ehlers-Danlos syndromes (EDS) are inherited connective tissue diseases with primary manifestations that affect the skin and the musculoskeletal system. However, the effects of EDS on the respiratory system are not well understood and are described in the literature as sporadic case reports. We performed histological, histomorphometric, and the first in-depth characterization of respiratory system function in a mouse model of classical EDS (cEDS) with haploinsufficiency of type V collagen (Col5a1+/-). Read More

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Successful Surgical Repair of Type A Acute Aortic Dissection in a Patient with Vascular Ehlers-Danlos Syndrome.

Ann Vasc Dis 2022 Mar;15(1):58-61

Department of Cardiovascular Surgery, Faculty of Medicine, University of Miyazaki, Miyazaki, Miyazaki, Japan.

Surgery for vascular complications of a patient with vascular Ehlers-Danlos syndrome (vEDS) is challenging due to the fragility of the associated tissues. In this study, we present a type A acute aortic dissection case in a patient with vEDS successfully treated via total arch replacement. A 42-year-old woman was transferred to our hospital 10 days after the onset of symptoms and underwent emergency surgery. Read More

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The Relevance of Skin Biopsies in General Internal Medicine: Facts and Myths.

Dermatol Ther (Heidelb) 2022 May 17;12(5):1103-1119. Epub 2022 Apr 17.

Department of Dermatology, University Hospital Centre, CHU du Sart Tilman, University of Liège, 4000, Liège, Belgium.

Introduction: Non-dermatology medical specialties may refer patients for skin biopsies, searching for a particular diagnosis. However, the diagnostic impact of the skin biopsy is not clearly established. This article aims to assess the indications for, and evaluate the clinical relevance of, skin biopsies in non-dermatology medical specialties. Read More

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Successful Conservative Management of a Rare Surgical Complication of Vascular Ehlers-Danlos Syndrome: A Case Report.

Perm J 2021 03 9;25. Epub 2021 Mar 9.

Division of Thoracic Surgery and Lung Transplantation, Georges Pompidou European Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

Vascular Ehlers-Danlos syndrome is a hereditary disorder of the connective tissue characterized by a reduction in the production of type III collagen. Clinical evolution of the disease is unpredictable because vascular lesions can occur everywhere in the body. Bruising, arterial and bowel fragility, and uterine fragility during pregnancy are the most common symptoms. Read More

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The psychological burden associated with Ehlers-Danlos syndromes: a systematic review.

J Osteopath Med 2022 Apr 14. Epub 2022 Apr 14.

Ehlers-Danlos Center and Department of Family Medicine, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, NY, USA.

Context: Ehlers-Danlos syndromes (EDS) are disorders of connective tissue that lead to a wide range of clinical presentations. While we are beginning to understand the association between EDS and psychological manifestations, it is critical that we further elucidate the relationship between the two. Understanding the correlation between EDS and mental health will better ensure swift diagnosis and effective treatment for patients. Read More

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Psychosocial and Motor Characteristics of Patients With Hypermobility.

Front Psychiatry 2021 28;12:787822. Epub 2022 Mar 28.

Department of Molecular Biology, Faculdade de Medicina de São José do Rio Preto - FAMERP, São José do Rio Preto, São Paulo, Brazil.

Objectives: To identify psychosocial and motor aspects related to joint hypermobility (JH) in a sample from almost all Brazilian states by age range and sex; to characterize JH by the Beighton total score ≥4, ≥5, and ≥6 according to sex and age and atypicality in the sitting position and in the hands; identify, in the total sample, manifestations of "growing pain" and its location, fatigue, attention deficit, anxiety, insomnia, drowsiness, apathy, depression, delay in walking, not crawling or crawling differently, school performance, spatial orientation and/or temporally impaired, social isolation, and being stigmatized as "lazy/clumsy/apathetic".

Methods: This retrospective, observational, quantitative, and cross-sectional study used data obtained through analyses of descriptive and inferential crossings between 2012 and 2020 of 482 medical records of individuals between 1 and 76 years of age, from most Brazilian states. All patients previously diagnosed with "joint hypermobility syndrome" (JHS) and "Ehlers-Danlos syndrome hypermobility type" (EDS-HT) had their medical records reassessed, following the guidelines established in 2017. Read More

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Evaluation of cervical spine pathology in children with Loeys-Dietz syndrome.

Surg Neurol Int 2022 18;13:96. Epub 2022 Mar 18.

Department of Neurosurgery, University of California San Diego, San Diego, California, United States.

Background: Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder associated with multiple musculoskeletal anomalies, including cervical spine instability. We sought to examine the nature of imaging for cervical spine instability in children with LDS due to likely pathogenic or pathogenic variants in , or .

Methods: A retrospective chart review was conducted, examining relevant data for all children with LDS screened at our institution from 2004 through 2021. Read More

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A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.

Am J Med Genet A 2022 Apr 9. Epub 2022 Apr 9.

Atwal Clinic, Palm Beach, Florida, USA.

The Ehlers-Danlos Syndromes (EDS) are a group of inherited connective tissue disorders with a worldwide prevalence of 1 in 2500 to 1 in 5000 births irrespective of sex or ethnicity. Fourteen subtypes of Ehlers-Danlos Syndrome (EDS) have been described, each with characteristic phenotypes and associated genes. Pathogenic variants in COL5A1 and COL5A2 cause the classical EDS subtypes. Read More

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Narcolepsy and Orthostatic Intolerance in an Adult With Ehlers-Danlos Syndrome.

Prim Care Companion CNS Disord 2022 04 5;24(2). Epub 2022 Apr 5.

King Edward Medical University, Lahore, Pakistan.

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Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health.

Am J Med Genet A 2022 Apr 8. Epub 2022 Apr 8.

Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital Amsterdam UMC Follow-Me program & Emma Neuroscience Group, Amsterdam, The Netherlands.

The psychosocial consequences of growing up with Heritable Connective Tissue Disorders (HCTD) are largely unknown. We aimed to assess Health-Related Quality of Life (HRQoL) and mental health of children and adolescents with HCTD. This observational multicenter study included 126 children, aged 4-18 years, with Marfan syndrome (MFS, n = 74), Loeys-Dietz syndrome (n = 8), molecular confirmed Ehlers-Danlos syndromes (n = 15), and hypermobile Ehlers-Danlos syndrome (hEDS, n = 29). Read More

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