scholarly journals Controversy and Consideration of Refractive Surgery in Patients with Heritable Disorders of Connective Tissue

2021 ◽  
Vol 10 (17) ◽  
pp. 3769
Author(s):  
Majid Moshirfar ◽  
Matthew R. Barke ◽  
Rachel Huynh ◽  
Austin J. Waite ◽  
Briana Ply ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Refractive Surgery ◽  
Pseudoxanthoma Elasticum ◽  
Ehlers Danlos Syndrome ◽  
Tissue Integrity ◽  
Ocular Manifestations ◽  
Ocular Symptoms ◽  
Globe Rupture ◽  
Increased Risk ◽  
Wide Range

Heritable Disorders of Connective Tissue (HDCTs) are syndromes that disrupt connective tissue integrity. They include Osteogenesis Imperfecta (OI), Ehlers Danlos Syndrome (EDS), Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS), Epidermolysis Bullosa (EB), Stickler Syndrome (STL), Wagner Syndrome, and Pseudoxanthoma Elasticum (PXE). Because many patients with HDCTs have ocular symptoms, commonly myopia, they will often present to the clinic seeking refractive surgery. Currently, corrective measures are limited, as the FDA contraindicates laser-assisted in-situ keratomileusis (LASIK) in EDS and discourages the procedure in OI and MFS due to a theoretically increased risk of post-LASIK ectasia, poor wound healing, poor refractive predictability, underlying keratoconus, and globe rupture. While these disorders present with a wide range of ocular manifestations that are associated with an increased risk of post-LASIK complications (e.g., thinned corneas, ocular fragility, keratoconus, glaucoma, ectopia lentis, retinal detachment, angioid streaks, and ocular surface disease), their occurrence and severity are highly variable among patients. Therefore, an HDCT diagnosis should not warrant an immediate disqualification for refractive surgery. Patients with minimal ocular manifestations can consider LASIK. In contrast, those with preoperative signs of corneal thinning and ocular fragility may find the combination of collagen cross-linking (CXL) with either photorefractive keratotomy (PRK), small incision lenticule extraction (SMILE) or a phakic intraocular lens (pIOL) implant to be more suitable options. However, evidence of refractive surgery performed on patients with HDCTs is limited, and surgeons must fully inform patients of the unknown risks and complications before proceeding. This paper serves as a guideline for future studies to evaluate refractive surgery outcomes in patients with HDCTs.

Arterial complications in classical Ehlers-Danlos syndrome: a case series

2020 ◽  
Vol 57 (11) ◽  
pp. 769-776
Author(s):  
Chloe Angwin ◽  
Angela F Brady ◽  
F Michael Pope ◽  
Anthony Vandersteen ◽  
Duncan Baker ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Case Series ◽  
Joint Hypermobility ◽  
Vascular Complication ◽  
Aortic Aneurysms ◽  
Vascular Events ◽  
Ehlers Danlos Syndrome ◽  
Arterial Complications ◽  
Arterial Complication ◽  
Increased Risk

BackgroundThe Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders with several recognised types. Patients with a type of EDS have connective tissue abnormalities resulting in a varying degree of joint hypermobility, skin and vascular fragility and generalised tissue friability. Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in COL5A1 or COL5A2. The cardinal features of cEDS are hyperextensible skin, atrophic scarring and joint hypermobility. Arterial complications are more characteristically a feature of vascular EDS although individual cases of arterial events in cEDS have been reported.MethodsA cohort of 154 patients with a clinical diagnosis of cEDS from the UK was analysed.ResultsSeven patients (4.5%) with a diagnosis of cEDS (four pathogenic, one likely pathogenic and two variants of uncertain significance in COL5A1) who had experienced arterial complications were identified. Arterial complications mostly involved medium-sized vessels and also two abdominal aortic aneurysms. No unique clinical features were identified in this group of patients.ConclusionThere is a possible increased risk of arterial complications in patients with cEDS, although not well-defined. Clinicians need to be aware of this possibility when presented with a patient with an arterial complication and features of cEDS. Long-term management in families with cEDS and a vascular complication should be individually tailored to the patient’s history and their family’s history of vascular events.

Heritable Disorders of Connective Tissue

PEDIATRICS ◽  
1957 ◽  
Vol 19 (6) ◽  
pp. 1160-1161
Author(s):  
JAMES V. NEEL
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Chronic Diseases ◽  
Marfan Syndrome ◽  
Pseudoxanthoma Elasticum ◽  
Hurler Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Hereditary Syndromes ◽  
Danlos Syndrome

The contents of this book first appeared as a series of papers in the Journal of Chronic Diseases from November, 1955, through May, 1956. These papers, with additions, have now been collected into a volume which is an excellent summary of the heritable disorders of connective tissue. After brief introductory chapters dealing with some general characteristics of hereditary syndromes, and with the biology of normal connective tissue, the author devotes successive chapters to the Marfan syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and the Hurler syndrome.

Inherited defects of connective tissue: Ehlers–Danlos syndrome, Marfan’s syndrome, and pseudoxanthoma elasticum

2010 ◽  
pp. 3771-3787
Author(s):  
N.P. Burrows
Keyword(s):  
Extracellular Matrix ◽  
Connective Tissue ◽  
Collagen Synthesis ◽  
Pseudoxanthoma Elasticum ◽  
Matrix Proteins ◽  
Structural Defects ◽  
Inherited Disorders ◽  
Ehlers Danlos Syndrome ◽  
Synthesis And Processing ◽  
Danlos Syndrome

The inherited disorders of connective tissue are all conditions in which structural defects in collagen or other extra cellular matrix proteins lead to its fragility, with the commonest sites of involvement being the skin, ligaments and vasculature. EDS is a heterogeneous group of disorders resulting from abnormalities in collagen synthesis and processing, or of other extracellular matrix proteins. They can be classified on the basis of descriptive clinical phenotype and/or underlying molecular cause. Most cases are autosomal dominant, but 30 to 50% may be sporadic....

scholarly journals SAT0653-HPR COMMUNITY RHEUMATOLOGY SERVICE IN THE UK – WHO BENEFITS THE MOST?

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1285.2-1286
Author(s):  
K. Szabo-Kocsis ◽  
M. Dare
Keyword(s):  
Primary Care ◽  
Connective Tissue ◽  
Waiting Time ◽  
Secondary Care ◽  
List Type ◽  
Ehlers Danlos Syndrome ◽  
Specialist Services ◽  
Wide Range ◽  
Set Up ◽  
The Uk

Background:Community rheumatology (CR) in the UK is a new form of rheumatologic service provision established in the last few years and run by few organisations such as Connect Health Ltd.CR is based on the principle of sharing the management of rheumatologic patients between community service and secondary care aiming to reduce the unreasonable referral flow from primary care to secondary care and to share the care of stable inflammatory patients between the services.In the traditional service model patients are referred by General Practitioners (GP) to the secondary care with a wide spectrum of conditions: from fibromyalgia through soft tissues rheumatisms to inflammatory or connective tissue diseases. Many of these patients will be discharged from the specialist service after their first visit with fibromyalgia, osteoarthritis, chronic pain syndrome or MSK diagnoses. The proportion of these patients versus those who have an inflammatory rheumatologic condition or connective tissue disease (CTD) varies significantly and can contribute to oversaturated specialist rheumatologic services with long waiting time where specialists deal with less relevant cases.Objectives:To determine how CR can improve quality of care and decrease the waiting time for appointment in secondary care rheumatology services. To set standards for referral pathways and measured outcomes of effectiveness in patient care.In the UK the regional Clinical Commissioning Groups would accept a maximum waiting time from the referral until patient treatment of up to 18 weeks and specialist services often breach that limit. This long interval may have a significant negative impact for the care of patients with rheumatological condition, reducing patient satisfaction and/or jeopardize patient safety. The solution to the above problem is the creation of CR service.Methods:Extensive search about the available resources within UK NHS system in regards CR service creation and set up. Web search, literature review in relation to CR in the UKResults:From the research different models of CR can be identified and one of these will be presented in details based on the experience of one of the largest organisation running CR services in the UK (Connect Health Ltd). This service is organised within community care set up and can accept patients referred by the primary care physicians with non-inflammatory symptoms (e.g. osteoarthritis, Ehlers - Danlos Syndrome, fibromyalgia) or PMR or gout. The service also can review stable inflammatory patients who are treated with DMARDs and are transferred from the secondary care service by their consultant. This presentation will demonstrate how CR provides safer, faster and more accessible services to the patients assisting the specialist services and allowing them to concentrate on the inflammatory and CTD patients who need faster access to these services than it is possible now. Particularly the presentation will emphasise on:Patient population coverTeam structure, their experience and trainingReferral criteria and IT set up for multidisciplinary connectionTime interval for appointment and patient feedbackImpact on the secondary care rheumatology serviceCases of misdiagnosis and inappropriate referralsCost effectiveness of the CRChallenges in the CR serviceConclusion:The CR service can be a safe addition to the specialist services taking over significant workload and provide new career opportunities for a wide range of Allied Health Professionals (AHP) for the bigger satisfaction of the patients who can access rheumatology service earlier and easier.Disclosure of Interests:None declared

scholarly journals Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

2012 ◽  
Vol 2012 ◽  
pp. 1-22 ◽  
Author(s):  
Marco Castori
Keyword(s):  
Connective Tissue ◽  
Correct Diagnosis ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Point Of Interest ◽  
Wide Range ◽  
Systemic Manifestations ◽  
Danlos Syndrome

Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. Nevertheless, the practitioners’ awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Among the various sites of disease manifestations, skin and mucosae represent a neglected organ where the dermatologist can easily spot diagnostic clues, which consistently integrate joint hypermobility and other orthopedic/neurologic manifestations at physical examination. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. Particular attention has been posed on overlooked manifestations, including cutaneous, mucosal, and oropharyngeal features, and early diagnosis techniques, as a major point of interest for the practicing dermatologist. Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists, comprising dermatologists.

Inherited defects of connective tissue: Ehlers–Danlos syndrome, Marfan’s syndrome, and pseudoxanthoma elasticum

2020 ◽  
pp. 4670-4687
Author(s):  
N.P. Burrows
Keyword(s):  
Extracellular Matrix ◽  
Connective Tissue ◽  
Extracellular Matrix Proteins ◽  
Pseudoxanthoma Elasticum ◽  
Matrix Proteins ◽  
Structural Defects ◽  
Marfan’S Syndrome ◽  
Marfan's Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

The inherited disorders of connective tissue are all conditions in which structural defects in collagen or other extracellular matrix proteins lead to its fragility, with the commonest sites of involvement being the skin, ligaments, vasculature, and hollow organs. These include Ehlers–Danlos syndrome, Marfan’s syndrome, and pseudoxanthoma elasticum. This chapter first examines Ehlers–Danlos syndrome, which is a heterogeneous group of disorders resulting from abnormalities in collagen synthesis and processing, or of other extracellular matrix proteins. They can be classified on the basis of descriptive clinical phenotype and/or underlying molecular cause. Most cases are autosomal dominant, but 30–50% may be sporadic. It then looks in detail at other disorders of the connective tissues, such as Marfan’s syndrome and pseudoxanthoma elasticum, including their presentations, diagnosis, treatment, and possible outlook.

Connective tissue diseases: pseudoxanthoma elasticum, anetoderma, and Ehlers-Danlos syndrome in pregnancy

2006 ◽  
Vol 24 (2) ◽  
pp. 91-96 ◽  
Author(s):  
Marcia Ramos-e-Silva ◽  
Ana Líbia Cardozo Pereira ◽  
Gustavo Bastos Oliveira ◽  
Sueli Coelho da Silva Carneiro
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Diseases ◽  
Pseudoxanthoma Elasticum ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
In Pregnancy

scholarly journals COVID-19 and Its Symptoms’ Panoply: A Case-Control Study of 919 Suspected Cases in Locked-Down Ovar, Portugal

2021 ◽  
pp. 1-8
Author(s):  
Regina Sá ◽  
Tiago Pinho-Bandeira ◽  
Guilherme Queiroz ◽  
Joana Matos ◽  
João Duarte Ferreira ◽  
...  
Keyword(s):  
Large Scale ◽  
Case Control Study ◽  
Statistical Significance ◽  
Case Control ◽  
Case Definition ◽  
Suspected Case ◽  
Risk Characteristics ◽  
Increased Risk ◽  
Wide Range ◽  
Control Study

<b><i>Background:</i></b> Ovar was the first Portuguese municipality to declare active community transmission of SARS-CoV-2, with total lockdown decreed on March 17, 2020. This context provided conditions for a large-scale testing strategy, allowing a referral system considering other symptoms besides the ones that were part of the case definition (fever, cough, and dyspnea). This study aims to identify other symptoms associated with COVID-19 since it may clarify the pre-test probability of the occurrence of the disease. <b><i>Methods:</i></b> This case-control study uses primary care registers between March 29 and May 10, 2020 in Ovar municipality. Pre-test clinical and exposure-risk characteristics, reported by physicians, were collected through a form, and linked with their laboratory result. <b><i>Results:</i></b> The study population included a total of 919 patients, of whom 226 (24.6%) were COVID-19 cases and 693 were negative for SARS-CoV-2. Only 27.1% of the patients reporting contact with a confirmed or suspected case tested positive. In the multivariate analysis, statistical significance was obtained for headaches (OR 0.558), odynophagia (OR 0.273), anosmia (OR 2.360), and other symptoms (OR 2.157). The interaction of anosmia and odynophagia appeared as possibly relevant with a borderline statistically significant OR of 3.375. <b><i>Conclusion:</i></b> COVID-19 has a wide range of symptoms. Of the myriad described, the present study highlights anosmia itself and calls for additional studies on the interaction between anosmia and odynophagia. Headaches and odynophagia by themselves are not associated with an increased risk for the disease. These findings may help clinicians in deciding when to test, especially when other diseases with similar symptoms are more prevalent, namely in winter.

scholarly journals Impact of Diagnosed and Undiagnosed Respiratory Pseudomonas on VAP and VAE During Long-Term Acute Care

2020 ◽  
Vol 41 (S1) ◽  
pp. s258-s259
Author(s):  
James Harrigan ◽  
Ebbing Lautenbach ◽  
Emily Reesey ◽  
Magda Wernovsky ◽  
Pam Tolomeo ◽  
...  
Keyword(s):  
Bacterial Community ◽  
Acute Care ◽  
Statistical Significance ◽  
Rrna Gene ◽  
Care Hospital ◽  
16S Sequencing ◽  
Increased Risk ◽  
Wide Range ◽  
The Impact

Background: Clinically diagnosed ventilator-associated pneumonia (VAP) is common in the long-term acute-care hospital (LTACH) setting and may contribute to adverse ventilator-associated events (VAEs). Pseudomonas aeruginosa is a common causative organism of VAP. We evaluated the impact of respiratory P. aeruginosa colonization and bacterial community dominance, both diagnosed and undiagnosed, on subsequent P. aeruginosa VAP and VAE events during long-term acute care. Methods: We enrolled 83 patients on LTACH admission for ventilator weaning, performed longitudinal sampling of endotracheal aspirates followed by 16S rRNA gene sequencing (Illumina HiSeq), and bacterial community profiling (QIIME2). Statistical analysis was performed with R and Stan; mixed-effects models were fit to relate the abundance of respiratory Psa on admission to clinically diagnosed VAP and VAE events. Results: Of the 83 patients included, 12 were diagnosed with P. aeruginosa pneumonia during the 14 days prior to LTACH admission (known P. aeruginosa), and 22 additional patients received anti–P. aeruginosa antibiotics within 48 hours of admission (suspected P. aeruginosa); 49 patients had no known or suspected P. aeruginosa (unknown P. aeruginosa). Among the known P. aeruginosa group, all 12 patients had P. aeruginosa detectable by 16S sequencing, with elevated admission P. aeruginosa proportional abundance (median, 0.97; IQR, 0.33–1). Among the suspected P. aeruginosa group, all 22 patients had P. aeruginosa detectable by 16S sequencing, with a wide range of admission P. aeruginosa proportional abundance (median, 0.0088; IQR, 0.00012–0.31). Of the 49 patients in the unknown group, 47 also had detectable respiratory Psa, and many had high P. aeruginosa proportional abundance at admission (median, 0.014; IQR, 0.00025–0.52). Incident P. aeruginosa VAP was observed within 30 days in 4 of the known P. aeruginosa patients (33.3%), 5 of the suspected P. aeruginosa patients (22.7%), and 8 of the unknown P. aeruginosa patients (16.3%). VAE was observed within 30 days in 1 of the known P. aeruginosa patients (8.3%), 2 of the suspected P. aeruginosa patients (9.1%), and 1 of the unknown P. aeruginosa patients (2%). Admission P. aeruginosa abundance was positively associated with VAP and VAE risk in all groups, but the association only achieved statistical significance in the unknown group (type S error <0.002 for 30-day VAP and <0.011 for 30-day VAE). Conclusions: We identified a high prevalence of unrecognized respiratory P. aeruginosa colonization among patients admitted to LTACH for weaning from mechanical ventilation. The admission P. aeruginosa proportional abundance was strongly associated with increased risk of incident P. aeruginosa VAP among these patients.Funding: NoneDisclosures: None

Sign in / Sign up

Export Citation Format

Share Document