A Critical Analysis of the Perioperative Management of Patients with Ehlers Danlos Type IV (Vascular) Syndrome

2017 ◽  
Vol 27 (9) ◽  
pp. 196-199
Author(s):  
J Martin
Keyword(s):  
Perioperative Management ◽  
Emergency Situation ◽  
Joint Hypermobility ◽  
Connective Tissue Disorders ◽  
Care Needs ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Vascular Type ◽  
Theatre Staff ◽  
Danlos Syndrome

This paper discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe & Malfait 2012). In 1997 EDS was revised and classified into six subtypes: classical (Types I and II), hypermobility, vascular (Type IV), kyphoscoliosis and arthrochalasia type. Each classification has been based on the following aspects: diagnostic uniformity, natural history, management, genetics, and the identification of potential areas for research (Beighton et al 1998). Vascular type EDS has serious implications for any form of surgical procedure and it is therefore imperative that theatre staff are fully conversant with the needs of this patient group. Overall awareness needs to be increased, particularly as most patients will most frequently be seen in an emergency situation, as elective procedures are avoided as far as possible.

scholarly journals Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

2011 ◽  
Vol 2011 ◽  
pp. 1-18 ◽  
Author(s):  
Olivier M. Vanakker ◽  
Dimitri Hemelsoet ◽  
Anne De Paepe
Keyword(s):  
Connective Tissue ◽  
Metabolic Disorders ◽  
Type Iv Collagen ◽  
Connective Tissue Diseases ◽  
Haemorrhagic Stroke ◽  
Monogenic Disease ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides arteriopathies and metabolic disorders, several connective tissue diseases can present with stroke. While some of these diseases have been recognized for decades as causes of stroke, such as the vascular Ehlers-Danlos syndrome, others only recently came to attention as being involved in stroke pathogenesis, such as those related to Type IV collagen. This paper discusses each of these connective tissue disorders and their relation with stroke briefly, emphasizing the main clinical features which can lead to their diagnosis.

Early and Late Outcomes of Cardiovascular Surgery in Patients With Ehlers-Danlos Syndrome

2021 ◽  
Vol 12 (6) ◽  
pp. 773-777
Author(s):  
Mohamed F. Elsisy ◽  
Alberto Pochettino ◽  
Joseph A. Dearani ◽  
Thomas C. Bower ◽  
Robert D. McBane ◽  
...  
Keyword(s):  
Surgical Outcomes ◽  
Time Frame ◽  
Ehlers Danlos Syndrome ◽  
Vital Status ◽  
Type Iv ◽  
Vascular Type ◽  
Baseline Characteristics ◽  
Danlos Syndrome ◽  
Adult Cardiac Surgery

Background Cardiovascular surgical outcomes reports are few for vascular type IV of Ehlers- Danlos Syndrome (vEDS) compared to non-vascular types I-III (nEDS). Methods To define cardiovascular surgical outcomes among adult patients (≥18 years) with EDS types, a review of our institution's in-house STS Adult Cardiac Surgery Database-compliant software and electronic medical records from Mayo Clinic (1993–2019) was performed. Outcomes were compared for vEDS patients and nEDS patients. Demographics, baseline characteristics, operative, in-hospital complications and follow-up vital status were analyzed. Results Over the study time frame, 48 EDS patients underwent surgery (mean age 52.6 ± 14.6 years; 48% females). Of these, 17 patients had vEDS and 31 patients had nEDS. Six patients (12.5%) underwent prior sternotomy. Urgent or emergent surgery was performed in 10 patients (20.8%). Aortic (vEDS 76.5% vs. nEDS 16.1%) and mitral procedures (vEDS 11.8% vs. nEDS 48.4%) were the two most common cardiovascular surgeries performed (p < .01 and p = .007, respectively). Cardiopulmonary bypass time (CPB) (165 ± 18 vs. 90 ± 13 min; p = .015) and aortic cross clamp times (140 ± 14 vs. 62 ± 10 min; p < .001) were longer for vEDS patients. There was 1 (2.1%) early and 7 (14.6%) late deaths; 6 among vEDS and 2 among nEDS patients. Survival at 5 (80% vs. 93%), 10 (45% vs. 84%) and 15 years (45% vs. 84%) was lower in patients with vEDS (p = .015 for each comparison). Conclusion Cardiovascular surgeries are significantly more complex with longer bypass and cross clamp times for type IV vEDS compared to nEDS patients. Reduced overall survival underscores the complexity and fragility of vEDS patients.

scholarly journals Increased augmentation index in patients with Ehlers-Danlos syndrome

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Maurice Roeder ◽  
Sira Thiel ◽  
Frederic Baumann ◽  
Noriane A. Sievi ◽  
Marianne Rohrbach ◽  
...  
Keyword(s):  
Arterial Stiffness ◽  
Augmentation Index ◽  
Positive Association ◽  
Joint Hypermobility ◽  
Applanation Tonometry ◽  
Classical Type ◽  
Healthy Controls ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Danlos Syndrome

Abstract Background Ehlers-Danlos Syndrome (EDS) comprises a heterogeneous group of diseases characterized by joint hypermobility, connective tissue friability, and vascular fragility. Reliable prognostic factors predicting vascular disease progression (e.g. arterial aneurysms, dissections, and ruptures) in EDS patients are still missing. Recently, applanation tonometry derived augmentation index (AIx), an indirect marker of arterial stiffness, has shown to be positively associated with progression of aortic disease in Marfan syndrome. In this study, we assessed aortic AIx in patients with EDS and matched healthy controls. Methods We performed noninvasive applanation tonometry in 61 adults with EDS (43 women and 18 men aged 39.3 ± 14.6 years) and 61 age-, gender-, height-, and weight-matched healthy controls. Radial artery pulse waveforms were recorded and analyzed using the SphygmoCor System (AtCor Medical, Sydney, NSW, Australia). Calculated AIx was adjusted to a heart rate of 75/min. Groups were compared and association between AIx and EDS was determined by univariate and multivariate regression analysis. Results EDS patients were categorized in classical type EDS (34%), hypermobile type EDS (43%), vascular type EDS (5%), or remained unassignable (18%) due to overlapping features. EDS patients showed a significantly increased aortic AIx compared to healthy controls (22.8% ± 10.1 vs 14.8% ± 14.0, p < 0.001). EDS showed a positive association with AIx; independent of age, sex, height, blood pressure, medication, and pack years of smoking. Conclusions Patients with EDS showed elevated AIx, indicating increased arterial stiffness when compared to healthy controls. Further investigations are needed in order to assess the prognostic value of increased AIx for cardiovascular outcomes in patients with EDS.

Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

2000 ◽  
Vol 342 (10) ◽  
pp. 673-680 ◽  
Author(s):  
Melanie Pepin ◽  
Ulrike Schwarze ◽  
Andrea Superti-Furga ◽  
Peter H. Byers
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Vascular Type ◽  
Genetic Features ◽  
Danlos Syndrome

scholarly journals A case report of obstetrical management of a pregnancy with hypermobile Ehlers–Danlos syndrome and literature review

2013 ◽  
Vol 6 (2) ◽  
pp. 80-82 ◽  
Author(s):  
H Khalil ◽  
J Rafi ◽  
T T Hla
Keyword(s):  
Case Report ◽  
Connective Tissue Disorders ◽  
Maternal Complications ◽  
Successful Pregnancy ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Obstetric Management ◽  
Maternal And Neonatal Outcomes ◽  
Obstetrical Management ◽  
Danlos Syndrome

We present a case report of a successful pregnancy outcome in a woman diagnosed with Ehlers–Danlos syndrome (EDS) hypermobility type or type III. EDS is a group of connective tissue disorders that has a common genotypic defect, but heterogeneous phenotypic presentations. The variation in EDS manifestations can result in moderate to severe effects on life-expectancy for some types. A number of studies and a review of the literature indicate that generally in pregnant women with EDS, maternal and neonatal outcomes are favourable. However, in EDS type IV, pregnancy can be associated with serious maternal complications. Therefore, obstetrical management should be individualized. This paper discusses the obstetric management of a patient with EDS hypermobility type and compares it to other studies in the literature.

Acute brain ischemia as a complication of the Ehlers–Danlos syndrome, the case series

Vascular ◽  
2013 ◽  
Vol 22 (5) ◽  
pp. 341-345 ◽  
Author(s):  
Michal Pajak ◽  
Marcin A Majos ◽  
Wojciech Szubert ◽  
Ludomir Stefanczyk ◽  
Agata Majos
Keyword(s):  
Brain Ischemia ◽  
Case Series ◽  
Vascular Complications ◽  
Limb Ischemia ◽  
Radiology Department ◽  
Artery Dissection ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Vascular Type ◽  
Danlos Syndrome

Vascular type of Ehlers–Danlos syndrome involves many severe complications leading not only to organ-specific symptoms but often ends in a sudden death. The aim of this paper was to present a diagnostic possibilities and its efficiency rate in patients with vascular complications of Ehlers–Danlos syndrome who suffered from artery dissection resulting in acute brain or limb ischemia. We analysed three patients with diagnosed Ehlers–Danlos syndrome who were referred to radiology department for diagnostic imaging of affected vascular beds, each experienced brain ischemia. The paper also aims at offering some general recommendations for patients suffering from possible complications of type IV Ehlers–Danlos syndrome basing on our own experience and available literature data.

scholarly journals REHABILITASI MEDIK PADA SINDROM EHLERS-DANLOS

2014 ◽  
Vol 6 (2) ◽  
Author(s):  
Ivan A. Chandra ◽  
Engeline Angliadi
Keyword(s):  
Daily Living ◽  
Weight Bearing ◽  
Joint Hypermobility ◽  
Clinical Findings ◽  
Joint Stability ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Dna Test ◽  
Comprehensive Rehabilitation ◽  
Danlos Syndrome

Abstract: Ehlers-Danlos syndrome is a group of inherited connective tissue disorders that manifests as hypermobility joint, hyperextensibility of the skin, and tissue fragility. There are 6 variants of this syndrome as follows: hypermobility, classic, vascular, kyphoscoliosis, athroclasia, and dermatosparaxis. The clinical manifestation of Ehlers-Danlos syndrome is often related to joint and skin. However, it rarely manifests as fragility or rupture of artery, scoliosis, and mitral valve disorder. The diagnosis of Ehlers-Danlos syndrome is based on clinical findings, family history with this syndrome, and additional tests inter alia DNA test. The management of Ehlers-Danlos syndrome could be medication, surgery, and rehabilitation. This rehabilitation is focused on increasing the joint stability, prohibiting for excessive burden to weight bearing joints, and using modified device to support activites of daily living without worsening the symptoms as well as supporting the psychological and medical social aspects of the patient. Keywords: Ehlers-Danlos syndrome, joint hypermobility, comprehensive rehabilitation   Abstrak: Sindrom Ehlers-Danlos (SED) adalah sekelompok gangguan pada jaringan penyambung yang bersifat diturunkan dan bermanifestasi sebagai hipermobilitas sendi, hiperekstensibilitas kulit, dan kerapuhan jaringan. Terdapat 6 jenis SED yaitu: hipermobilitas, klasik, vaskuler, kifoskoliosis, artrokalasia, dan dermatosparaksis. Manifestasi klinis SED sering berkaitan dengan sendi dan kulit. Manifestasi lain yang lebih jarang ditemukan antara lain kerapuhan atau ruptur pembuluh darah arteri, skoliosis, serta gangguan katup mitral. Diagnosis SED ditegakkan berdasarkan penemuan klinis, riwayat keluarga dengan SED, serta pemeriksaan penunjang antara lain tes DNA. Penanganan SED terdiri dari medikasi, operasi, dan rehabilitasi. Penanganan rehabilitasi difokuskan pada peningkatan stabilitas sendi, pencegahan beban berlebih pada sendi yang weight bearing, serta penggunaan modifikasi alat untuk membantu aktifitas sehari-hari tanpa memperberat gejala. Selain itu, rehabilitasi medik juga berperan penting terhadap aspek psikologik maupun sosial medik pasien SED. Kata kunci: sindroma Ehlers-Danlos, hipermobilitas sendi, rehabilitasi komprehensif

scholarly journals Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene

2010 ◽  
Vol 49 (16) ◽  
pp. 1797-1800 ◽  
Author(s):  
Rinako Sadakata ◽  
Atsushi Hatamochi ◽  
Keiji Kodama ◽  
Akiko Kaga ◽  
Takefumi Yamaguchi ◽  
...  
Keyword(s):  
Point Mutation ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Vascular Type ◽  
Col3a1 Gene ◽  
Danlos Syndrome

Clinical and Genetic Features of Ehlers-Danlos Syndrome Type IV, the Vascular Type

2000 ◽  
Vol 55 (8) ◽  
pp. 469-471 ◽  
Author(s):  
Melanie Pepin ◽  
Ulrike Schwarze ◽  
Andrea Superti-Furga ◽  
Peter H. Byers
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Vascular Type ◽  
Genetic Features ◽  
Danlos Syndrome
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