المؤلفون: Buso, Giacomo^1,2 (AUTHOR), Paini, Anna¹ (AUTHOR), Agabiti-Rosei, Claudia¹ (AUTHOR), De Ciuceis, Carolina¹ (AUTHOR), Bertacchini, Fabio¹ (AUTHOR), Stassaldi, Deborah¹ (AUTHOR), Salvetti, Massimo¹ (AUTHOR), Ritelli, Marco³ (AUTHOR), Venturini, Marina⁴ (AUTHOR), Colombi, Marina³ (AUTHOR), Muiesan, Maria Lorenza¹ (AUTHOR) marialorenza.muiesan@unibs.it

المصدر: Vascular Medicine. Jun2024, Vol. 29 Issue 3, p265-273. 9p.

مصطلحات موضوعية: *EHLERS-Danlos syndrome, *BLOOD pressure measurement, *MEDICAL offices, *CONNECTIVE tissues

مستخلص: Background: Vascular Ehlers–Danlos syndrome (vEDS) is an inherited connective tissue disorder characterized by arterial fragility. Celiprolol has been suggested to significantly reduce rates of vascular events in this setting, though real-world evidence is limited. The aim of this study was to report our experience with celiprolol therapy in vEDS management. Methods: Patients with a genetically confirmed diagnosis of vEDS who were referred for outpatient consultation at the Brescia University Hospital between January 2011 and July 2023 were included. At each visit, patients' medical history, results of vascular imaging, and office blood pressure measurements were recorded. Celiprolol therapy was progressively titrated to the maximum tolerated dose of up to 400 mg daily, according to the patients' tolerance. Results: Overall, 26 patients were included. Female sex was prevalent (62%). Mean (SD) age was 37 (16) years. Follow-up duration was 72 (41) months. At the last follow-up visit, all patients were on celiprolol therapy, 80% of whom were taking the maximum recommended dose. The yearly risk of symptomatic vascular events was 8.8%, the majority of which occurred after reaching the maximum recommended dose of celiprolol. No significant predictor of symptomatic vascular events was identified among patients' clinical characteristics. Conclusion: In our cohort, rates of celiprolol use were high and the drug was well tolerated overall. Nonetheless, the risk of symptomatic vascular events remained nonnegligible. Future studies should identify reliable predictors of major adverse events and explore additional therapeutic strategies that could further lower the risk of life-threatening events in this population. [ABSTRACT FROM AUTHOR]

المؤلفون: Pezaro, Sally^1,2 (AUTHOR) sally.pezaro@coventry.ac.uk, Brock, Isabelle³ (AUTHOR), Buckley, Maggie⁴ (AUTHOR), Callaway, Sarahann⁵ (AUTHOR), Demirdas, Serwet⁶ (AUTHOR), Hakim, Alan⁷ (AUTHOR), Harris, Cheryl⁸ (AUTHOR), High Gross, Carole⁹ (AUTHOR), Karanfil, Megan¹⁰ (AUTHOR), Le Ray, Isabelle¹¹ (AUTHOR), McGillis, Laura¹² (AUTHOR), Nasar, Bonnie¹³ (AUTHOR), Russo, Melissa¹⁴ (AUTHOR), Ryan, Lorna¹⁵ (AUTHOR), Blagowidow, Natalie¹⁶ (AUTHOR)

المصدر: PLoS ONE. 5/15/2024, Vol. 19 Issue 5, p1-34. 34p.

مصطلحات موضوعية: *EHLERS-Danlos syndrome, *POSTURAL orthostatic tachycardia syndrome, *MAST cell disease, *PREGNANCY, *NEWBORN infant care, *MOBILITY of older people, *ABORTION

مستخلص: 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. Methods: A scoping review using Embase, Medline, the Cochrane Central Register of Controlled Trials and CINHAL was conducted from May 2022 to September 2023. Articles were included if they reported primary research findings in relation to childbearing with hEDS/HSD, including case reports. No language limitations were placed on our search, and our team had the ability to translate and screen articles retrieved in English, French, Spanish, Italian, Russian, Swedish, Norwegian, Dutch, Danish, German, and Portuguese. The Mixed Methods Appraisal Tool was used to assess bias and quality appraise articles selected. The co-creation of guidelines was based on descriptive evidence synthesis along with practical and clinical experience supported by patient and public involvement activities. Results: Primary research studies (n = 14) and case studies (n = 21) including a total of 1,260,317 participants informed the co-creation of guidelines in four overarching categories: 1) Preconceptual: conception and screening, 2) Antenatal: risk assessment, management of miscarriage and termination of pregnancy, gastrointestinal issues and mobility, 3) Intrapartum: risk assessment, birth choices (mode of birth and intended place of birth), mobility in labor and anesthesia, and 4) Postpartum: wound healing, pelvic health, care of the newborn and infant feeding. Guidelines were also included in relation to pain management, mental health, nutrition and the common co-morbidities of postural orthostatic tachycardia syndrome, other forms of dysautonomia, and mast cell diseases. Conclusions: There is limited high quality evidence available. Individualized strategies are proposed for the management of childbearing people with hEDS/HSD throughout pregnancy, birth, and the postpartum period. A multidisciplinary approach is advised to address frequently seen issues in this population such as tissue fragility, joint hypermobility, and pain, as well as common comorbidities, including dysautonomia and mast cell diseases. [ABSTRACT FROM AUTHOR]

المؤلفون: Xu, Kexin^1,2,3,4 (AUTHOR), Li, Guozhuang^1,2,3,4 (AUTHOR), Wu, Zhihong^2,3,4,5 (AUTHOR), Zhang, Terry Jianguo^1,2,3,4 (AUTHOR) jgzhang_pumch@yahoo.com, Wu, Nan^1,2,3,4 (AUTHOR) dr.wunan@pumch.cn

المصدر: Orphanet Journal of Rare Diseases. 5/13/2024, Vol. 19 Issue 1, p1-6. 6p.

مصطلحات موضوعية: *EHLERS-Danlos syndrome, *MEDICAL personnel, *DIAGNOSIS, *SYMPTOMS, *JOINT hypermobility, *FAMILIAL spastic paraplegia

مصطلحات جغرافية: CHINA

مستخلص: 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. Challenges in diagnosis and management arise from the complexity of the disease, which is further complicated by its rarity. The development of clinical guidelines and implementation of coordinated multi-disciplinary team (MDT) approaches have emerged as global priorities. Main body: Chinese Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes was therefore established. Healthcare professionals were recruited from 25 top hospitals across China. The experts are specialized in 24 fields, including genetics, vascular surgery, dermatology, and orthopedics, as well as nursing care, rehabilitation, psychology, and nutrition. Based on GRADE methodology, the Guidelines were written by the Group supervised by methodologists, following a systemic review of all 4453 articles in PubMed published before August 9, 2023, using the search term "Ehlers Danlos". A coordinated MDT approach for the diagnosis and management of EDS is highly recommended by the Group, along with 29 specific recommendations addressing key clinical questions. In addition to the treatment plan, the Guidelines also emphasize integrating support from nursing care, rehabilitation, psychology, and nutrition. This integration not only facilitates recovery in hospital settings, but most importantly, the transition from an illness-defined life to a more "normalized" life. Conclusion: The first guidelines on EDS will shorten the diagnostic odyssey and solve the unmet medical needs of the patients. This article is a synopsis of the full guidelines. [ABSTRACT FROM AUTHOR]

المؤلفون: Varone, Francesco^1,2 (AUTHOR) francesco.varone@policlinicogemelli.it, Martini, Alessia² (AUTHOR), Cicchetti, Giuseppe^2,3 (AUTHOR), Iovene, Bruno^1,2 (AUTHOR), Sgalla, Giacomo^1,2 (AUTHOR), Richeldi, Luca^1,2 (AUTHOR), Cancellieri, Alessandra^2,4 (AUTHOR)

المصدر: CHEST. May2024, Vol. 165 Issue 5, pe133-e136. 4p.

مصطلحات موضوعية: *PULMONARY nodules, *EHLERS-Danlos syndrome, *GENETIC counseling, *GENETIC testing, *COMPUTED tomography, *HEMOPTYSIS

مستخلص: 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. At histologic examination, we found the presence of irregularly shaped, but mainly not dendritic, foci of ossification that often contained bone marrow and were embedded or surrounded by tendinous-like fibrous tissue. After incorporating data from the histologic examination, we decided to perform genetic counseling and genetic testing with the use of whole-exome sequencing. The genetic test revealed a heterozygous de novo missense mutation of COL3A1 gene, which encodes for type III collagen synthesis, and could cause vascular Ehlers-Danlos syndrome. [ABSTRACT FROM AUTHOR]

المؤلفون: Topan, Rabia¹, Pandya, Shraya¹, Williams, Sarah², Ruffle, James K.¹, Zarate-Lopez, Natalia³, Aziz, Qasim¹ q.aziz@qmul.ac.uk, Fikree, Asma¹

المصدر: American Journal of Gastroenterology (Lippincott Williams & Wilkins). Apr2024, Vol. 119 Issue 4, p727-738. 12p.

مصطلحات موضوعية: *EHLERS-Danlos syndrome, *POSTURAL orthostatic tachycardia syndrome, *NUTRITION, *CROSS-sectional method, *FOOD consumption, *COMPULSIVE eating

مستخلص: INTRODUCTION: Disorders of gut-brain interaction (DGBI) are common in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder (hEDS/HSD). Food is a known trigger for DGBI symptoms, which often leads to dietary alterations and, increasingly, nutrition support. We aimed to explore dietary behaviors and influencing factors in patients with hEDS/HSD. METHODS: In a cross-sectional study, patients with hEDS/HSD were recruited from Ehlers-Danlos Support UK (nontertiary) and tertiary neurogastroenterology clinics to complete questionnaires characterizing the following: dietary behaviors, nutrition support, DGBI (Rome IV), gastrointestinal symptoms, anxiety, depression, avoidant restrictive food intake disorder (ARFID), mast cell activation syndrome, postural tachycardia syndrome (PoTS), and quality of life. We used stepwise logistic regression to ascertain which factors were associated with dietary behaviors and nutrition support. RESULTS: Of 680 participants (95% female, median age 39 years), 62.1% altered their diet in the last year and 62.3% regularly skipped meals. Altered diet was associated with the following: reflux symptoms (P < 0.001), functional dyspepsia (P 5 0.008), reported mast cell activation syndrome (P < 0.001), and a positive screen for ARFID, specifically fear of eating and low interest (P < 0.001). Approximately 31.7% of those who altered their diet required nutrition support. The strongest predictor of requiring nutrition support was a positive screen for ARFID, specifically fear of eating (OR: 4.97, 95% CI: 2.09-11.8, P < 0.001). DISCUSSION: Altered diet is very common in the patients with hEDS/HSD we studied and influenced by functional dyspepsia, reflux symptoms, and ARFID. Those with ARFID have a 4-fold increased risk of requiring nutrition support, and therefore, it is paramount that psychological support is offered in parallel with dietary support in the management of DGBI in hEDS/HSD. [ABSTRACT FROM AUTHOR]

المؤلفون: Ha, Zong Yi¹ (AUTHOR) suzanne.lewis@ubc.ca, Chijiwa, Chieko^1,2 (AUTHOR), Lewis, Suzanne^1,2,3 (AUTHOR)

المصدر: Genes. Apr2024, Vol. 15 Issue 4, p461. 7p.

مصطلحات موضوعية: *EHLERS-Danlos syndrome, *JOINT hypermobility, *AORTIC root aneurysms, *SHORT stature, *FLATFOOT, *MESENTERIC artery

مستخلص: 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. An EDS sequencing panel-based analysis revealed homozygous AEBP1: NM_001129.5:c.2923del, p.Ala975Profs*22 likely pathogenic variants, and maternally inherited heterozygous COL11A1: NM_001854.4:c.1160A>G, p.Lys387Arg variant of uncertain significance in our patient. Upon comprehensive review of all previously reported clEDS2 patients, our patient exhibited the following overlapping phenotypes, including cutaneous features: hyperextensibility, atrophic scars/delayed wound healing (100%), easy bruising (100%), excessive skin (93%); skeletal features: generalized joint hypermobility (93%), pes planus (93%), dislocation/subluxation (93%); and cardiovascular features (86%). Our patient did not display symptoms of the critical complications reported in a few individuals, including superior mesenteric artery aneurysms and ruptures, aortic root aneurysm/dissection, spontaneous pneumothoraxes, and bowel ruptures. Together, this case expands the genetic and clinical phenotypic spectrum of AEBP1-related clEDS2. [ABSTRACT FROM AUTHOR]

المؤلفون: van Dijk, Fleur S.^1,2 fleur.dijk@nhs.net, Ghali, Neeti^1,2, Chandratheva, Arvind³

المصدر: Practical Neurology. Apr2024, Vol. 24 Issue 2, p90-97. 9p.

مصطلحات موضوعية: *VERTIGO, *EHLERS-Danlos syndrome, *HEADACHE, *RARE diseases, *JOINT instability, *VASCULAR diseases, *GENETIC testing, *CONNECTIVE tissues

مستخلص: Ehlers-Danlos syndromes (EDS) is an umbrella term describing 14 types, of which 13 are rare and monogenic, with overlapping features of joint hypermobility, skin, and vascular fragility, and generalised connective tissue friability. Hypermobile EDS currently has no identified genetic cause. Most of the rare monogenic EDS types can have neurological features, which are often part of major or minor diagnostic criteria for each type. This review aims to highlight the neurological features and other key characteristics of these EDS types. This should improve recognition of these features, enabling more timely consideration and confirmation or exclusion through genetic testing. In practice, many healthcare professionals still refer to patients as having 'EDS'. However, the different EDS types have distinct clinical features as well as different underlying genetic causes and pathogenic mechanisms, and each requires bespoke management and surveillance. Defining the EDS type is therefore crucial, as EDS is not in itself a diagnosis. [ABSTRACT FROM AUTHOR]

المؤلفون: Guerrerio, Anthony L.¹ (AUTHOR), Mateja, Allyson² (AUTHOR), MacCarrick, Gretchen³ (AUTHOR), Fintzi, Jonathan⁴ (AUTHOR), Brittain, Erica⁴ (AUTHOR), Frischmeyer-Guerrerio, Pamela A.⁵ (AUTHOR), Dietz, Harry C.^3,6 (AUTHOR) hdietz@jhmi.edu

المصدر: PLoS ONE. 3/21/2024, Vol. 19 Issue 3, p1-12. 12p.

مصطلحات موضوعية: *EHLERS-Danlos syndrome, *COVID-19 vaccines, *COVID-19, *CARDIOLOGICAL manifestations of general diseases, *EMERGENCY room visits, *PROPORTIONAL hazards models

مصطلحات جغرافية: UNITED States

مستخلص: Background: Hypermobile Ehlers-Danlos syndrome is a heritable connective tissue disorder associated with generalized joint hypermobility but also other multisystem comorbidities, many of which may be exacerbated during a viral illness or after a vaccination. We sought to determine whether individuals with hypermobile Ehlers Danlos syndrome report an increase in adverse events, including cardiovascular events, after COVID-19 illness or vaccination. Methods: A cross-sectional web-based survey was made available from November 22, 2021, through March 15, 2022. 368 respondents primarily from the United States self-reported data including diagnosis. We used a Cox proportional hazards model with time varying indicators for COVID-19 illness or vaccination in the previous 30 days. Results: We found a significantly increased rate of new abnormal heart rhythms reported in the 30 days following COVID-19 illness. No additional cardiovascular events were reported after COVID-19 illness. 2.5% of respondents with COVID-19 illness were hospitalized. We did not find a statistically significant increased rate of cardiovascular events in the 30 days following any COVID-19 vaccination dose. Post COVID-19 vaccination, 87.2% of hypermobile Ehlers-Danlos syndrome respondents endorsed an expected adverse event (EAE), and 3.1% reported an emergency department visit/hospitalization, of those who received at least one vaccine dose. Events possibly reflecting exacerbation of orthostasis/dysautonomia were common. Conclusion: Respondents did not report an increased rate of any cardiovascular events in the 30 days following COVID-19 vaccination; however, those with hypermobile Ehlers-Danlos syndrome experienced a high rate of expected adverse events after vaccination consistent with a high baseline prevalence of similar symptoms. No cardiovascular events other than new abnormal heart rhythms were reported at any point after a COVID-19 illness. [ABSTRACT FROM AUTHOR]

المؤلفون: Wagner, Wendy¹ (AUTHOR), Doyle, Tom A.² (AUTHOR), Francomano, Clair A.³ (AUTHOR), Knight, Dacre R. T.⁴ (AUTHOR), Halverson, Colin M. E.^2,5,6,7 (AUTHOR) chalver@iu.edu

المصدر: Orphanet Journal of Rare Diseases. 3/14/2024, Vol. 19 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *EHLERS-Danlos syndrome, *JOINT hypermobility, *MEDICAL personnel, *HEALTH facilities, *SUBURBS, *CONNECTIVE tissues

مصطلحات جغرافية: CHICAGO (Ill.)

مستخلص: Background: The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. The complex nature of this unique patient population requires multidisciplinary care, but appropriate centers for such care do not exist in large portions of the country. Need for more integrated services has been identified in Chicagoland, or Chicago and its suburbs. In order to explore and begin to address barriers to seeking appropriate care facing EDS patients in this region, we developed an online survey which we circulated through EDS social media groups for Chicagoland patients. Results: Three hundred and nine unique respondents participated. We found that there exists a strong medical need for and interest in the development of a center in the region, and participants reported that, if made available to them, they would make extensive and regular use of such a facility. Conclusions: We conclude that the establishment of a collaborative medical center specializing in the diagnosis and treatment of EDS, Hypermobility Spectrum Disorder, and related disorders in the Chicagoland area would greatly benefit patients by providing comprehensive care, alleviate the burden on overworked healthcare providers, and contribute to the sustainability of medical facilities. [ABSTRACT FROM AUTHOR]

المؤلفون: Wu, Andrew¹ (AUTHOR), Matur, Abhijith V.¹ (AUTHOR), Childress, Kelly¹ (AUTHOR), Khalid, Syed¹ (AUTHOR), Garner, Rebecca M.¹ (AUTHOR), Vorster, Phillip¹ (AUTHOR), Tao, Xu¹ (AUTHOR), Shukla, Geet¹ (AUTHOR), Onyewadume, Louisa¹ (AUTHOR), Motley, Benjamin¹ (AUTHOR), Virojanapa, Justin¹ (AUTHOR), Cheng, Joseph S.¹ (AUTHOR), Adogwa, Owoicho¹ (AUTHOR) adogwaoo@ucmail.uc.edu

المصدر: World Neurosurgery. Mar2024, Vol. 183, pe51-e58. 8p.

مصطلحات موضوعية: *EHLERS-Danlos syndrome, *SURGICAL complications, *CONFOUNDING variables, *CONNECTIVE tissues, *TEMPOROMANDIBULAR disorders, TUMOR surgery

مستخلص: Ehlers-Danlos syndrome (EDS) is a collection of connective tissue disorders which are often associated with tissue laxity and disc degeneration. However, the implications of EDS on the risk of adjacent segment disease (ASD) after transforaminal lumbar interbody fusion (TLIF) are not well described. The objective of this study is to compare the rates of ASD among patients with EDS and those without EDS. Patients who underwent 1–3 level TLIF for degenerative disc disease between 2010–2022 were identified using the PearlDiver Mariner all-claims insurance database. Patients with all types of EDS were included. Patients undergoing surgery for tumors, trauma, or infection were excluded. 1:1 propensity matching was performed using demographic factors, medical comorbidities, and surgical factors which were significantly associated with ASD in a linear regression model. The primary outcome measure was the development of ASD. The secondary outcomes were the development of pseudoarthrosis, medical complications, and surgical complications. Propensity matching resulted in 2 equal groups of 85 patients who did or did not have EDS and underwent 1–3 level TLIF. Patients without EDS were less likely to experience ASD (RR 0.18, 95% CI 0.09–0.35, P < 0.001). There was no significant difference between the 2 patient groups with regards to a diagnosis of pseudoarthrosis, and there was no significant difference for all-cause medical and surgical complications between the 2 patient groups. After propensity matching to control for confounding variables, the findings of this study suggest that EDS may be associated with an increased risk of ASD following TLIF. Future studies are needed to corroborate these findings. [ABSTRACT FROM AUTHOR]