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1.
Chest ; 165(5): e133-e136, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38724151

RESUMO

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.


Assuntos
Colágeno Tipo III , Hemoptise , Tomografia Computadorizada por Raios X , Humanos , Feminino , Adulto , Hemoptise/etiologia , Hemoptise/diagnóstico , Colágeno Tipo III/genética , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/genética , Diagnóstico Diferencial , Mutação de Sentido Incorreto , Nódulos Pulmonares Múltiplos/diagnóstico , Nódulos Pulmonares Múltiplos/diagnóstico por imagem , Pulmão/diagnóstico por imagem , Pulmão/patologia
2.
JMIR Res Protoc ; 13: e53646, 2024 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-38696252

RESUMO

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. However, studies that have used social media to recruit have not been able to recruit diverse samples. OBJECTIVE: This study aims to discuss challenges, strategies, outcomes, and lessons learned from using social media to recruit a large sample of females with EDS. METHODS: Recruitment on social media for a cross-sectional survey examining dyspareunia (painful sexual intercourse) in females was examined. Inclusion criteria were (1) older than 18 years of age, (2) assigned female at birth, and (3) diagnosed with EDS. Recruitment took place on Facebook and Twitter (now X), from June 1 to June 25, 2019. RESULTS: A total of 1178 females with EDS were recruited from Facebook (n=1174) and X (n=4). On Facebook, participants were recruited via support groups. A total of 166 EDS support groups were identified, 104 permitted the principal investigator to join, 90 approved posting, and the survey was posted in 54 groups. Among them, 30 of the support groups posted in were globally focused and not tied to any specific country or region, 21 were for people in the United States, and 3 were for people outside of the United States. Recruitment materials were posted on X with the hashtag #EDS. A total of 1599 people accessed the survey and 1178 people were eligible and consented. The average age of participants was 38.6 (SD 11.7) years. Participants were predominantly White (n=1063, 93%) and non-Hispanic (n=1046, 92%). Participants were recruited from 29 countries, with 900 (79%) from the United States and 124 (11%) from Great Britain. CONCLUSIONS: Our recruitment method was successful at recruiting a large sample. The sample was predominantly White and from North America and Europe. More research needs to be conducted on how to recruit a diverse sample. Areas to investigate may include connecting with more support groups from outside the United States and Europe, researching which platforms are popular in different countries, and translating study materials into different languages. A larger obstacle to recruiting diverse samples may be the lack of health care providers that diagnose EDS outside the United States and Europe, making the pool of potential participants small. There needs to be more health care providers that diagnose and treat EDS in countries that are predominantly made up of people of color as well as research that specifically focuses on these populations. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR1-10.2196/53646.


Assuntos
Síndrome de Ehlers-Danlos , Mídias Sociais , Humanos , Síndrome de Ehlers-Danlos/diagnóstico , Feminino , Estudos Transversais , Adulto , Mídias Sociais/estatística & dados numéricos , Inquéritos e Questionários , Seleção de Pacientes , Estados Unidos/epidemiologia , Pessoa de Meia-Idade
3.
BMC Musculoskelet Disord ; 25(1): 347, 2024 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-38693507

RESUMO

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. Headache disorder was diagnosed according to the Child Headache-Attributed Restriction, Disability, and Social Handicap and Impaired Participation (HARDSHIP) questionnaires for child and adolescent and International Classification of Headache Disorders (ICHD-III). RESULTS: A total of 4,832 student (mean age 10.3 ± 3.1 years), 798 patients with BJHS and 912 healthy children were evaluated. The probability of headache in children aged 7-11 with hypermobility was 3.7 times lower than in children aged 12-16 with hypermobility (P = 0.001). The occurrence of headache in children with BJHS was more than the control group (P = 0.001), and the probability of headache in children with BJHS was 3.7 times higher than in healthy children (P = 0.001). Migraine was the most common headache type reported of total cases. The probability of migraine in children with BJHS was 4.5 times higher than healthy children ( P = 0.001). CONCLUSION: This study showed a significant correlation between BJHS and headache (especially migraine) in children and adolescents.


Assuntos
Cefaleia , Instabilidade Articular , Instabilidade Articular/congênito , Humanos , Adolescente , Criança , Masculino , Feminino , Estudos de Casos e Controles , Irã (Geográfico)/epidemiologia , Instabilidade Articular/epidemiologia , Instabilidade Articular/diagnóstico , Instabilidade Articular/complicações , Prevalência , Cefaleia/epidemiologia , Cefaleia/diagnóstico , Síndrome de Ehlers-Danlos/epidemiologia , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/complicações
4.
Orphanet J Rare Dis ; 19(1): 194, 2024 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-38741208

RESUMO

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.


Assuntos
Síndrome de Ehlers-Danlos , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/terapia , Síndrome de Ehlers-Danlos/genética , Humanos , China , Guias de Prática Clínica como Assunto
5.
J Int Med Res ; 52(4): 3000605241242582, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38603608

RESUMO

This narrative review aims to demonstrate and summarize the complex relationship between Ehlers-Danlos syndromes (EDS) and temporomandibular disorders (TMD) by reviewing the results of observational studies and case reports. EDS are a set of hereditary connective tissue disorders, where generalized joint hypermobility (GJH), especially in the hypermobile subtype (hEDS), is a key symptom. Mutations have been identified in genes that impact the production or assembly of collagen for all subtypes except hEDS. While the correlation between GJH and TMD has been analysed in various studies, fewer studies have examined TMD in patients with EDS, with most showing an increased prevalence of TMD. In case-control studies, an elevated prevalence of myalgia, arthralgia and disc-related disorders was found in individuals with EDS. Various therapeutic interventions have been reported within the literature in the form of case reports and observational studies, but there are no long-term clinical trials with results on the efficacy of different therapeutic approaches to date. This review demonstrates the high prevalence of different TMDs in different subtypes of EDS, but also shows that little is known about the success of treatment thus far. Further clinical research is necessary to provide adequate guidance on targeted treatment.


Assuntos
Síndrome de Ehlers-Danlos , Instabilidade Articular , Transtornos da Articulação Temporomandibular , Humanos , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Instabilidade Articular/complicações , Instabilidade Articular/epidemiologia , Colágeno , Transtornos da Articulação Temporomandibular/epidemiologia , Transtornos da Articulação Temporomandibular/etiologia , Transtornos da Articulação Temporomandibular/diagnóstico , Estudos de Casos e Controles
6.
Int J Pediatr Otorhinolaryngol ; 180: 111959, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38657428

RESUMO

OBJECTIVE: As outlined by the NIH, Ehlers Danlos Syndrome (EDS) is a group of hereditary connective tissue disorders characterized by skin hyperelasticity, joint hypermobility, atrophic scarring, and blood vessel fragility, with no otolaryngological criteria for diagnosis. We aimed to compare otolaryngological disorders between children with EDS and those not affected by EDS. METHODS: A retrospective chart review was conducted using the US collaborative network within TriNetX. The EDS group was defined by ICD-10 code G47.33, while the non-EDS group excluded any patients with an EDS diagnosis. Cohorts were matched by age, sex, and race using propensity score matching. Pathologies analyzed included hearing loss (ICD-10H90, H91), otitis media (ICD-10H66, H65), allergic rhinitis, acute tonsillitis (ICD-10 J03), sinusitis (ICD-10 J32, J01), and obstructive sleep apnea (OSA) (ICD-10 G47.33). Chi-square and relative risk within a 95 % confidence interval were calculated. RESULTS: Propensity score matching yielded 6440 patients (male: N = 2,523, 39.2 %; female: N = 3,893, 60.5 %; unknown: N = 24, 0.37 %) with a mean age of 9.28 years (SD = 4.38). Children with EDS were 2.04 times more likely to be diagnosed with hearing loss, occurring in 286 (4.4 %) EDS children versus 140 (2.1 %) controls (P < 0.001). Children with EDS were 1.6 times more likely to be diagnosed with allergic rhinitis, occurring in 436 (6.8 %) EDS children versus 274 (4.2 %) controls (P < 0.001). Children with EDS were also 1.52 times (EDS: N = 350, 5.4 %; control: N = 231, 3.6 %) and 4.24 times (EDS: N = 335, 5.2 %; control: N = 79, 1.2 %) more likely to develop sinusitis and be diagnosed with OSA, respectively, compared to children without EDS (P < 0.001). However, children with EDS were only 0.71 times as likely to develop acute tonsillitis, with 101 (1.6 %) of EDS children compared to 142 (2.2 %) of control children being diagnosed (P = 0.009). No statistical difference was found in risk of developing otitis media. CONCLUSIONS: Children with EDS are at higher risk of developing hearing loss, allergic rhinitis, acute sinusitis, and OSA, possibly due to underlying immune dysfunction. Pediatric otolaryngologists should be vigilant about these otolaryngologic sequela in EDS patients.


Assuntos
Síndrome de Ehlers-Danlos , Pontuação de Propensão , Humanos , Masculino , Feminino , Estudos Retrospectivos , Criança , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Adolescente , Pré-Escolar , Otorrinolaringopatias , Estados Unidos , Apneia Obstrutiva do Sono , Perda Auditiva/etiologia , Otite Média/complicações , Rinite Alérgica/epidemiologia , Rinite Alérgica/complicações
7.
Adv Rheumatol ; 64(1): 32, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38664779

RESUMO

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. In this review, insights for the diagnosis and treatment of osteogenesis imperfecta, hypermobility spectrum disorder/Ehlers-Danlos syndrome, Marfan, Loeys-Dietz, and Stickler syndromes are presented.


Assuntos
Doenças do Tecido Conjuntivo , Humanos , Artrite , Colágeno/genética , Doenças do Tecido Conjuntivo/genética , Doenças do Tecido Conjuntivo/terapia , Síndrome de Ehlers-Danlos/genética , Síndrome de Ehlers-Danlos/diagnóstico , Perda Auditiva Neurossensorial , Instabilidade Articular/genética , Síndrome de Loeys-Dietz/genética , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Marfan/genética , Síndrome de Marfan/diagnóstico , Osteogênese Imperfeita/genética , Descolamento Retiniano
8.
JAMA Dermatol ; 160(5): 572-573, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38536154

RESUMO

This cross-sectional study assesses the prevalence and risk of excessive sweating and joint hypermobility in Israeli adolescents aged 16 to 19 years.


Assuntos
Hiperidrose , Humanos , Adolescente , Feminino , Masculino , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/complicações , Criança , Prevalência
9.
Pediatr Ann ; 53(3): e104-e108, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38466333

RESUMO

Heavy menstrual bleeding has a high prevalence and is well documented in adult patients with hypermobile-type Ehlers-Danlos syndrome, but there is limited research surrounding work-up and treatment for the adolescent population. Excessive menstrual blood loss can significantly interfere with emotional and physical quality of life. A provider should acquire a comprehensive medical and menstrual history and focused physical examination, as well as baseline laboratory studies, to determine the presence of anemia or underlying bleeding disorder. Use of a pictorial blood assessment chart may be considered to help quantify the amount of bleeding. Treatment to reduce heavy menstrual flow and referral to specialty care should be initiated swiftly to improve quality of life for this population. [Pediatr Ann. 2024;53(3):e104-e108.].


Assuntos
Síndrome de Ehlers-Danlos , Instabilidade Articular , Menorragia , Adolescente , Feminino , Humanos , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/terapia , Instabilidade Articular/complicações , Instabilidade Articular/diagnóstico , Instabilidade Articular/terapia , Instabilidade Articular/congênito , Menorragia/diagnóstico , Menorragia/etiologia , Menorragia/terapia , Qualidade de Vida
10.
Orphanet J Rare Dis ; 19(1): 122, 2024 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-38486236

RESUMO

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.


Assuntos
Doenças do Tecido Conjuntivo , Síndrome de Ehlers-Danlos , Instabilidade Articular , Humanos , Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/diagnóstico , Inquéritos e Questionários
11.
Curr Opin Gastroenterol ; 40(3): 225-232, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38393310

RESUMO

PURPOSE OF REVIEW: Individuals with joint hypermobility disorders are increasingly referred to gastroenterology services for support with the investigation and management of gastrointestinal complaints. Individuals can present with a myriad of complex coexisting diagnoses, the inter-relationship of which is unclear. This review discusses the proposed association between hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD) with disorders of mast cell activation and provides an overview of gastrointestinal symptoms and nutritional outcomes in this patient cohort. RECENT FINDINGS: It is unclear whether a true association between hEDS/HSD and mast cell activation disorders exists. There is a high prevalence of nonspecific gastrointestinal symptoms in individuals with hEDS/HSD and patients may be at risk of macro-nutrient and micro-nutrient deficiencies, although the current evidence base is limited. SUMMARY: We advocate a pragmatic approach to the investigation and management of gastrointestinal symptoms in patients with hEDS/HSD. This centres on excluding organic pathology, discussing the overlap with disorders of gut-brain interactions, trialling evidence-based therapies targeting individual symptoms, and supporting nutritional deficiencies where present via the least invasive approach. Engagement with a broad multidisciplinary team is also important to support the holistic needs of this patient cohort.


Assuntos
Síndrome de Ehlers-Danlos , Instabilidade Articular , Desnutrição , Distúrbios Nutricionais , Humanos , Mastócitos/patologia , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/terapia , Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/complicações , Instabilidade Articular/terapia , Instabilidade Articular/diagnóstico , Distúrbios Nutricionais/complicações , Desnutrição/complicações , Desnutrição/terapia
12.
J Rehabil Med ; 56: jrm12431, 2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38323531

RESUMO

OBJECTIVE: Chronic pain is a common manifestation of Ehlers-Danlos syndrome and hypermobility spectrum disorders; thus it is often suggested that patients undergo generic interdisciplinary pain rehabilitation, despite there being little evidence to support this decision. The aim of this study is to examine the effectiveness of standard rehabilitation programmes for chronic pain on patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders, compared with patients with other chronic pain disorders. SUBJECTS: Data, collected between 2008 and 2016, were extracted from a Swedish national registry. The patient data comprised of 406 cases with Ehlers-Danlos syndrome or hypermobility spectrum disorders, 784 cases with a whiplash-related diagnosis, 3713 cases with diagnoses relating to spinal pain, and 2880 cases of fibromyalgia. METHODS: The differences between groups on key outcome measures from pre- to 1-year follow-up after interdisciplinary pain rehabilitation were analysed using linear mixed effects models. Sensitivity analysis in the form of pattern-mixture modelling was conducted to discern the impact of missing data. RESULTS: No significant differences were found in improvements from pre- to 1-year follow-up for patients with Ehlers-Danlos syndrome or hypermobility spectrum disorder compared with other diagnostic groups regarding measures of health-related quality of life, mental health, or fatigue. At follow-up, differences in pain interference (d = -0.34 (95% confidence interval [95% CI] -0.5 to -0.18)), average pain (d = 0.22 (95% CI 0.11-0.62)) and physical functioning (d = 2.19 (95% CI 1.61-2.77)) were detected for the group with spinal-related diagnoses in relation to those with EDS/HSD, largely due to pre-treatment group differences. Sensitivity analysis found little evidence for missing data influencing the results. CONCLUSION: This study suggests that patients with Ehlers-Danlos syndrome/hypermobility spectrum disorders may benefit from inclusion in an interdisciplinary pain rehabilitation programme.


Assuntos
Dor Crônica , Síndrome de Ehlers-Danlos , Instabilidade Articular , Humanos , Qualidade de Vida , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/psicologia , Síndrome de Ehlers-Danlos/reabilitação , Manejo da Dor
13.
Brain Behav ; 14(2): e3441, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38409931

RESUMO

BACKGROUND: The hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are connective tissue disorders characterized by generalized joint hypermobility, associated with chronic pain and several symptoms, such as fatigue, dysautonomia, as well as psychiatric co-morbidities. Clinical observations of unusual manifestations during systematic sensory testing raised the question of a possible co-existence with a functional neurological disorder (FND). Hence, this study aimed to assess the presence of positive functional neurological signs (FNS) in a cohort of patients with hEDS/HSD. METHODS: The clinical data of hEDS/HSD patients (N = 24) were retrospectively analyzed and compared to a prospectively recruited age-/sex-matched healthy control group (N = 22). Four motor- and three sensory-positive FNS were assessed. RESULTS: Twenty-two patients (92%) presented at least one motor or sensory FNS. Five patients (21%) presented only a single FNS, 14 presented between 2 and 4 FNS (58%), and 3 patients presented 5 or more FNS (12%). None of the healthy controls presented motor FNS, and only two presented a sensory FNS. CONCLUSIONS: The presence of FNS in hEDS/HSD deserves better clinical detection and formal diagnosis of FND to offer more adequate care in co-morbid situations. In fact, FND can severely interfere with rehabilitation efforts in hEDS/HSD, and FND-targeted physical therapy should perhaps be combined with EDS/HSD-specific approaches.


Assuntos
Síndrome de Ehlers-Danlos , Instabilidade Articular , Neuralgia , Humanos , Estudos Retrospectivos , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Instabilidade Articular/complicações , Instabilidade Articular/diagnóstico
14.
Cardiovasc Interv Ther ; 39(2): 126-136, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38182694

RESUMO

Patients with heritable connective tissue disorders (HCTDs), represented by Marfan syndrome, can develop fatal aortic and/or arterial complications before age 50. Therefore, accurate diagnosis, appropriate medical treatment, and early prophylactic surgical treatment of aortic and arterial lesions are essential to improve prognosis. Patients with HCTDs generally present with specific physical features due to connective tissue abnormalities, while some patients with heritable thoracic aortic diseases (HTADs) have few distinctive physical characteristics. The development of genetic testing has made it possible to provide accurate diagnoses for patients with HCTDs/HTADs. This review provides an overview of the diagnosis and treatment of HCTDs/HTADs, including current evidence on cardiovascular interventions for this population.


Assuntos
Dissecção Aórtica , Doenças Cardiovasculares , Doenças do Tecido Conjuntivo , Síndrome de Ehlers-Danlos , Síndrome de Marfan , Humanos , Pessoa de Meia-Idade , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Doenças Cardiovasculares/complicações , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/genética , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Tecido Conjuntivo
16.
Schmerz ; 38(1): 12-18, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38189943

RESUMO

BACKGROUND: The clinical picture of people with Ehlers-Danlos syndromes (EDS) is complex and involves a variety of potential causes of pain. This poses major challenges to patients and healthcare professionals alike in terms of diagnosis and management of the condition. OBJECTIVES: The aim of the article was to provide an overview of the specific pain management needs of patients with EDS and address their background. MATERIAL AND METHODS: A selective literature search was performed to highlight the current state of research on pain management in EDS patients. RESULTS: Affected patients require multimodal pain management considering their individual needs, disease-specific features, and comorbidities. CONCLUSION: Medical awareness and evidence need to be further improved to enhance the medical care situation of these patients with complex needs.


Assuntos
Síndrome de Ehlers-Danlos , Instabilidade Articular , Humanos , Instabilidade Articular/diagnóstico , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/terapia , Dor , Comorbidade , Manejo da Dor
17.
Syst Rev ; 13(1): 27, 2024 01 12.
Artigo em Inglês | MEDLINE | ID: mdl-38217042

RESUMO

BACKGROUND: Conditions such as hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndrome (EDS) are most often diagnosed when an individual has joint flexibility beyond the normal physiological limits. Additional characteristics and symptoms include pain and fatigue with individuals also being more likely to report feelings of anxiety and depression. Due to the varied presentation of these conditions, there is a lack of understanding amongst the various healthcare professionals (HCPs) individuals present to, leading to delayed diagnoses and negative experiences for the individuals themselves. This scoping review therefore aims to map the known biopsychosocial impact of adults with HSD and EDS. METHODS: The scoping review will follow the six-step framework as outlined by Arskey and O'Malley and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews (PRISMA-ScR) checklist. The search will be conducted using the following databases: AMED, CINAHL, Cochrane Library, Embase, MEDLINE, PsycINFO, PubMed PEDro. Full-text published articles in the English language (excluding literature and systematic reviews) with adult samples (over the age of 18 years) and a diagnosis of a HSD or EDS, published between 2012 and 2022, will be included in the review. DISCUSSION: This review will aim to explore the existing literature for the reported biopsychosocial impact of adults with a HSD or EDS. It will also aim to further acknowledge the gaps in understanding of the condition, how the condition and the impact of the condition is being measured and what HCPs are involved in supporting such individuals. These gaps will be used to inform a future systematic review. It is the overall goal to increase the knowledge of HCPs and the quality of life of adults living with a joint hypermobility condition.


Assuntos
Síndrome de Ehlers-Danlos , Instabilidade Articular , Adulto , Humanos , Pessoa de Meia-Idade , Ansiedade , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/psicologia , Instabilidade Articular/psicologia , Dor , Qualidade de Vida , Literatura de Revisão como Assunto
18.
Disabil Rehabil ; 46(8): 1527-1533, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37067184

RESUMO

PURPOSE: Chronic pain is a common feature of hypermobile Ehlers-Danlos Syndrome (hEDS), yet how patients assess and communicate their pain remains poorly understood. The objective of the present study was to explore the use of numeric pain assessment in individuals with hEDS, from a patient-centered perspective. MATERIALS AND METHODS: Our analysis is based on in-depth qualitative interviews. The interviews were conducted over the phone. Our participants were patients living with hEDS (N = 35). Interviews were recorded, transcribed, and analyzed to identify factors related to their use of these pain assessment instruments. RESULTS: Three primary themes emerged from these data, namely, (1) confusion around the quantification of multidimensional pain, (2) the subjectivity of pain experience, and (3) a strategic use of assessments for practical purposes beyond the accurate representation of pain.These results demonstrate the need for caution in relying exclusively on numeric pain assessment instruments. We conclude with a brief proposal for a clinical communication strategy that may help to address the limitations of numeric pain assessment that were identified in our interviews.


Chronic pain is a common feature of hypermobile Ehlers­Danlos Syndrome (hEDS), yet how patients assess and communicate their pain remains poorly understood.Clinicians should be aware that patients have difficulties with the Numeric Rating Scale (NRS) for at least three reasons: (1) confusion around the quantification of multidimensional pain, (2) the subjectivity of pain experience, and (3) a strategic use of assessments for practical purposes beyond the accurate representation of pain.Clinicians should use caution in relying exclusively on NRS instruments.Clinicians may benefit from using clinical communication strategies outlined in our paper, which may help to address the limitations of the NRS that were identified in our interviews.


Assuntos
Dor Crônica , Síndrome de Ehlers-Danlos , Instabilidade Articular , Humanos , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Dor Crônica/diagnóstico , Dor Crônica/etiologia
19.
Clin Exp Rheumatol ; 42(3): 682-688, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37976114

RESUMO

OBJECTIVES: Hypermobile Ehlers-Danlos Syndrome (hEDS) is a hereditary connective tissue disorder characterised by joint hypermobility, chronic musculoskeletal pain, and skin abnormalities and easy bruising. Morphological and functional microvascular status has not yet been studied in hEDS, and dermal thickness (DT) has been poorly investigated. METHODS: The aim of the study was to investigate the microvascular morphology by nailfold videocapillaroscopy (NVC), peripheral blood perfusion (PBP) by laser speckle contrast analysis (LASCA), and DT by high-frequency skin ultrasound (22 MHz probe) in adults with hEDS compared to sex- and age-matched controls. RESULTS: Microhaemorrhages were found more prevalent and the capillary number per linear millimetre at the nailfold was slightly higher in hEDS patients than in controls, as well as the NVC score for abnormal shaped capillaries was slightly lower (less abnormal shaped capillaries) in hEDS patients than in controls, even if this was not statistically significant. PBP was comparable between hEDS patients and controls. The DT resulted generally lower in hEDS patients than controls with significant values limited to feet and thorax (p=0.04). A statistically significant positive correlation was observed between the Beighton score and the score for microhaemorrhages (r=0.4, p=0.05), as well as between the Beighton score and DT (r≥0.5, p≤0.02) at the level of feet and thorax. CONCLUSIONS: Our study detected in hEDS patients a normal microvascular function at rest and a suitable capillary morphology but with increased microvascular fragility. The dermal thickness seems thinner in hEDS patients than in controls in most skin areas, with strong statistically significance at the level of feet and thorax.


Assuntos
Doenças do Tecido Conjuntivo , Síndrome de Ehlers-Danlos , Instabilidade Articular , Adulto , Humanos , Projetos Piloto , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Pele , Instabilidade Articular/diagnóstico por imagem , Instabilidade Articular/etiologia
20.
Laryngoscope ; 134(2): 894-896, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37377146

RESUMO

Laryngological manifestations of connective tissue diease with hypermobility such as ehlers-danlos syndrome (EDS) are not well defined in the literature. EDS is an inherited, hetrogeneous, connective tissue disorder characterized by joint hypermobility, skin extensibility, and joint dislocations. A case series of 9 patients is presented with varying laryngological complaints. Common comorbities include postural orthostatic tachycardia syndrome (POTS), fibromyalgia, irritable bowel syndrome (IBS), and gastroesophageal reflux disease (GERD)/laryngopharyngeal reflux disease (LPRD). Six patients were singers. Videostroboscopic parameters and treatment courses are described. It may be beneficial to view patients with EDS and laryngological complaints through a holistic lens as many may need interdisciplinary assessment and management. Laryngoscope, 134:894-896, 2024.


Assuntos
Síndrome de Ehlers-Danlos , Refluxo Gastroesofágico , Instabilidade Articular , Síndrome da Taquicardia Postural Ortostática , Humanos , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Refluxo Gastroesofágico/complicações
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