Ehler-Danlos syndrome

A female patient, known to have hypermobile Ehlers-Danlos syndrome (hEDS), underwent several elective gastroscopies under sedation in different hospitals. Except for a single incident of mild laryngospasm during emergence, all procedures were uneventful. On that occasion, following the procedure in the postanesthesia care unit, the patient suffered severe airway obstruction, and standard airway rescue techniques exacerbated adequate ventilation. After the removal of all stimuli and maintaining only an indirect oxygen supply via a mask in front of her face, her airway improved, and the patient fully recovered after 17 minutes...

BACKGROUND: There is limited understanding of the hypothesized association between the Ehlers-Danlos Syndromes (EDS), hypermobility and fractures in children. Despite this, EDS and hypermobility continue to be raised in the legal setting as possible causes of unexplained fractures in infants where there is a concern for physical abuse. Further understanding is needed regarding fractures in children with EDS and hypermobility. OBJECTIVE: This study assessed fracture prevalence and characteristics in children diagnosed with EDS and Generalized Joint Hypermobility (GJH)...

OBJECTIVE: To co-create expert guidelines for the management of pregnancy, birth, and postpartum recovery in the context of hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). DESIGN: Scoping Review and Expert Co-creation. SETTING: United Kingdom, United States of America, Canada, France, Sweden, Luxembourg, Germany, Italy, and the Netherlands. SAMPLE: Co-creators (n = 15) included expertise from patients and clinicians from the International Consortium on the Ehlers-Danlos syndromes and Hypermobility Spectrum Disorders, facilitated by the Ehlers-Danlos Society...

The gastrointestinal (GI) manifestations in children with hypermobile Ehlers-Danlos syndrome/joint hypermobility syndrome (hEDS/JHS) are not well described. We investigated the prevalence of GI disorders in children and young adults with hEDS/JHS through a single-center retrospective review. Demographic data, clinical history, symptoms, and diagnostic studies were reviewed. Of 435 patients with hEDS/JHS, 66% were females (age 5-28 years). We noted a high prevalence of constipation (61%), dysphagia (32%), dyspepsia and/or gastroparesis (25%), eosinophilic esophagitis (EoE) (21%), and celiac disease (4%) in our cohort...

PURPOSE: To assess the outcomes of medial patellofemoral ligament (MPFL) reconstruction using synthetic suture tape in paediatric patients with patellofemoral instability (PFI). METHODS: This ambispective comparative study, conducted from 2014 to 2022, included paediatric patients who underwent MPFL reconstruction with synthetic suture tape and had a minimum follow-up of 1 year. Pre- and postoperative clinical and functional outcomes, patient satisfaction and complications were assessed...

No abstract text is available yet for this article.

BACKGROUND: The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders. EDS is clinically and genetically heterogeneous and usually involves multiple systems. There are 14 subtypes of EDS with hallmark features including joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical manifestations and their severity differ among the subtypes, encompassing recurrent joint dislocations, scoliosis, arterial aneurysm and dissection, and organ rupture...

PURPOSE: Hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorder (HSD) are painful, chronic and multi-systemic conditions. No online pain management programs for hEDS/HSD currently exist. We aimed to develop one by exploring what people with hEDS/HSD want in such programs. MATERIALS AND METHODS: A Delphi was conducted via online surveys of stakeholders: participants with hEDS/HSD and healthcare professionals (HCP). In survey 1, participants were asked if a hEDS/HSD-specific online pain management program was important, listing up to 20 topics important to know about pain...

No abstract text is available yet for this article.

OBJECTIVE: Thoracic endovascular aortic repair (TEVAR) in patients with genetic aortopathies (GA) is controversial given concerns of durability. We describe characteristics and outcomes following TEVAR in patients with GA. METHODS: All patients undergoing TEVAR between 2010-2023 in the VQI were identified and categorized as having a GA or not. Demographics, baseline, and procedural characteristics were compared among groups. Multivariable logistic regression was used to evaluate the independent association of GA with postoperative outcomes...

We describe the case of a young 33-year-old woman that was referred to our clinic for evidence of migrant cavitary nodules at CT scan, dyspnea, and blood sputum. Her physical examination showed translucent and thin skin, evident venous vascular pattern, vermilion of the lip thin, micrognathia, thin nose, and occasional Raynaud phenomenon. We prescribed another CT scan that showed multiple pulmonary nodules in both lungs, some of which had evidence of cavitation. Because bronchoscopy was not diagnostic, we decided to perform surgical lung biopsy...

BACKGROUND: The Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by disruptions in collagen synthesis and processing. These disorders lead to various symptoms, including hypermobility, musculoskeletal conditions, and chronic pain that can significantly limit patients' daily living. In the absence of a curative treatment, an EDS specific disability index that tracks changes in patient-reported outcomes can facilitate the investigation of new treatment options and enhance the quality of life for EDS patients...

OBJECTIVE: The authors present a finite element analysis (FEA) evaluating the mechanical impact of C1-2 hypermobility on the spinal cord. METHODS: The Code_Aster program was used to perform an FEA to determine the mechanical impact of C1-2 hypermobility on the spinal cord. Normative values of Young's modulus were applied to the various components of the model, including bone, ligaments, and gray and white matter. Two models were created: 25° and 50° of C1-on-C2 rotation, and 2...

BACKGROUND: Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders caused by fragile lax collagen. Current EDS research lacks racial and ethnic diversity. The lack of diversity may be associated with the complexities of conducting a large international study on an underdiagnosed condition and a lack of EDS health care providers who diagnose and conduct research outside of the United States and Europe. Social media may be the key to recruiting a large diverse EDS sample...

PLOD1 -related kyphoscoliotic Ehlers-Danlos syndrome is a rare, autosomal recessive connective tissue disorder characterized by congenital hypotonia, early-onset, progressive kyphoscoliosis, and generalized joint hypermobility. PLOD1 -kyphoscoliotic Ehlers-Danlos syndrome is also associated with heightened vascular fragility, resulting in an elevated susceptibility to recurrent vascular complications such as arterial aneurysms, dissection, and spontaneous arterial rupture. We report the cases of two affected brothers: a 13-year-old boy presenting with spontaneous rupture of a celiac artery aneurysm and a 10-year-old boy presenting with a rapidly enlarging celiac artery aneurysm requiring urgent repair...

BACKGROUND: Benign Joint Hypermobility Syndrome (BJHS) is a most common hereditary connective tissue disorders in children and adolescents. This study aimed to investigate the prevalence and subtypes of headache in children with BJHS. METHODS: This observational-analytical study was conducted in a case-control setting on school children aged 7 to 16 years in 2021-2023 in Isfahan, Iran. Students were examined for BJHS using Beighton criteria by a pediatric rheumatologist...

BACKGROUND: Ehlers-Danlos syndrome (EDS), a disorder affecting synthesis of collagen, typically presents with chronic pain, hypermobility, and early osteoarthritis. EDS patients undergoing total hip arthroplasty (THA) are at risk of dislocation and revision. Opioid use and impact on outcomes among this population remain unknown. METHODS: A retrospective review was performed with a large national database querying the International Classification of Disease, tenth revision procedure codes identifying 1,244,368 primary THAs from 2015-2020...

Recently, an autosomal recessive subtype of connective tissue disorder within the spectrum of Ehlers-Danlos syndrome (EDS), named classical-like EDS type 2 (clEDS2), was identified. clEDS2 is associated with biallelic variants in the adipocyte enhancer binding protein 1 ( AEBP1 ) gene, specifically, affecting its aortic carboxypeptidase-like protein (ACLP) isoform. We described the 15th patient (13th family) diagnosed with clEDS2. This patient presented with notable similarities in phenotype to the documented cases, along with additional characteristics such as significant prematurity and short stature...

Ehlers-Danlos syndromes (EDSs) constitute a heterogeneous group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Asymptomatic EDSs, joint hypermobility without associated syndromes, EDSs, and hypermobility spectrum disorders are the commonest phenotypes associated with joint hypermobility. Joint hypermobility syndrome (JHS) is a connective tissue disorder characterized by extreme flexibility of the joints, along with pain and other symptoms...

Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesis, development, or secretion of collagen and/or its associated proteins. The clinical phenotype includes multiple signs and symptoms, usually nonspecific but of interest to rheumatologists because of musculoskeletal involvement. The patient´s journey to diagnosis is long, and physicians should include these disorders in their differential diagnoses of diseases with systemic involvement...