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Journal articles on the topic 'Ehlers-Danlos syndrome type VIA'

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Published: 4 June 2021

Last updated: 8 February 2022

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1

Amin, Ruchi, and Brett H. Waibel. "Spontaneous Diaphragmatic Rupture in Hypermobile Type Ehlers-Danlos Syndrome." Case Reports in Surgery 2017 (2017): 1–3. http://dx.doi.org/10.1155/2017/2081725.

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Ehlers-Danlos Syndrome refers to a spectrum of connective tissue disorders that have a variety of clinical manifestations. In this case, we present a spontaneous diaphragmatic rupture in a patient with type III Ehlers-Danlos Syndrome. The patient presented with worsening shortness of breath after failure of medical therapy for a presumed pneumonia. A CT scan was obtained which showed diaphragmatic rupture with splenic herniation which was repaired in the operating room via thoracotomy. It is important to include diaphragmatic rupture in the differential diagnosis for patients with connective tissue disease and acute onset tachypnea and pain, as this complication has the potential for significant morbidity without prompt surgical intervention.

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2

Zhao, Xin, Liming Tan, Li Yang, and Harrison X. Bai. "Is Vascular Fragility a Significant Concern in Ehlers-Danlos Syndrome Type VIA?" Pediatric Neurology 52, no. 4 (April 2015): e3-e4. http://dx.doi.org/10.1016/j.pediatrneurol.2014.10.031.

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3

Giunta, Cecilia, Ann Randolph, Lihadh I. Al-Gazali, Han G. Brunner, Marius E. Kraenzlin, and Beat Steinmann. "Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)." American Journal of Medical Genetics Part A 133A, no. 2 (2005): 158–64. http://dx.doi.org/10.1002/ajmg.a.30529.

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4

Desai, Sapan S., Maria Codreanu, Kristofer M. Charlton-Ouw, Hazim Safi, and Ali Azizzadeh. "Endovascular repair of a ruptured subclavian artery aneurysm in a patient with Ehlers–Danlos syndrome using a sandwich technique." Vascular 22, no. 5 (January 13, 2014): 371–74. http://dx.doi.org/10.1177/1708538113516319.

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We present the case of a type IV Ehlers–Danlos syndrome patient with a ruptured right subclavian artery aneurysm and associated arteriovenous fistula who underwent successful endovascular repair requiring simultaneous stent graft repair of the innominate artery using a sandwich technique. A 17-year-old man with known type IV Ehlers–Danlos syndrome developed right neck and shoulder swelling. CTA study demonstrated a 17 × 13-cm ruptured subclavian artery aneurysm with an associated internal jugular vein arteriovenous fistula. In the hybrid suite, a 7 mm × 15-cm stent graft (Viabahn, WL Gore & Associates, Flagstaff, AZ) was advanced from the right brachial approach into the innominate artery. A separate wire was placed into the right carotid artery via the right femoral approach (7 Fr), and a 7 mm × 10-cm stent graft (Viabahn) was advanced into the innominate artery. An additional 8 mm × 10-cm stent graft (Viabahn) was placed from the right brachial approach to obtain a distal-landing zone in the axillary artery. Complex vascular anatomy, in which graft seal creation may be challenging, does not exclude endovascular approaches as the sandwich technique can be utilized as a suitable alternative to open repair.

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5

Tosun, Ayşe, Serkan Kurtgoz, Siar Dursun, and Gokay Bozkurt. "A Case of Ehlers-Danlos Syndrome Type VIA With a Novel PLOD1 Gene Mutation." Pediatric Neurology 51, no. 4 (October 2014): 566–69. http://dx.doi.org/10.1016/j.pediatrneurol.2014.06.020.

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6

Tosun, A., S. Kurtgoz, S. Dursun, and E. Keskin. "P234 – 2113 A case of Ehlers-Danlos syndrome type VIA with novel PLOD1 gene mutation." European Journal of Paediatric Neurology 17 (September 2013): S117—S118. http://dx.doi.org/10.1016/s1090-3798(13)70413-6.

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7

Ishikawa, Satoko, Tomoki Kosho, Tomoko Kaminaga, Manabu Miyamoto, Yoichiro Hamasaki, Shigemi Yoshihara, Shujiro Hayashi, and Ken Igawa. "Endoplasmic reticulum stress and collagenous formation anomalies in vascular‐type Ehlers–Danlos syndrome via electron microscopy." Journal of Dermatology 48, no. 4 (February 2021): 481–85. http://dx.doi.org/10.1111/1346-8138.15766.

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8

Rohrbach, Marianne, Anthony Vandersteen, Uluç Yiş, Gul Serdaroglu, Esra Ataman, Maya Chopra, Sixto Garcia, et al. "Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation." Orphanet Journal of Rare Diseases 6, no. 1 (2011): 46. http://dx.doi.org/10.1186/1750-1172-6-46.

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9

Abdalla, Ebtesam M., Marianne Rohrbach, Céline Bürer, Marius Kraenzlin, Hazem El-Tayeby, Mervat F. Elbelbesy, Amira Nabil, and Cecilia Giunta. "Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype." European Journal of Pediatrics 174, no. 1 (October 3, 2014): 105–12. http://dx.doi.org/10.1007/s00431-014-2429-9.

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10

Ritelli, Cinquina, Giacopuzzi, Venturini, Chiarelli, and Colombi. "Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes." Genes 10, no. 9 (August 21, 2019): 631. http://dx.doi.org/10.3390/genes10090631.

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The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region. Biallelic variants in XYLT1 and XYLT2, encoding xylosyltransferases, are associated with Desbuquois dysplasia type 2 and spondylo-ocular syndrome, respectively. Defects in B4GALT7 and B3GALT6, encoding galactosyltransferases, lead to spondylodysplastic Ehlers-Danlos syndrome (spEDS). Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Herein, we report on a 13-year-old girl with a clinical presentation suggestive of spEDS, according to the 2017 EDS nosology, in whom compound heterozygosity for two B3GAT3 likely pathogenic variants was identified. We review the spectrum of B3GAT3-related disorders and provide a comparison of all LK patients reported up to now, highlighting that LKs are a phenotypic continuum bridging EDS and skeletal disorders, hence offering future nosologic perspectives.

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11

Hudson, David M., MaryAnn Weis, Jyoti Rai, Kyu Sang Joeng, Milena Dimori, Brendan H. Lee, Roy Morello, and David R. Eyre. "P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA." Journal of Biological Chemistry 292, no. 9 (January 23, 2017): 3877–87. http://dx.doi.org/10.1074/jbc.m116.762245.

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12

Giunta, Cecilia, Ann Randolph, and Beat Steinmann. "Mutation analysis of the PLOD1 gene: An efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)." Molecular Genetics and Metabolism 86, no. 1-2 (September 2005): 269–76. http://dx.doi.org/10.1016/j.ymgme.2005.04.014.

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13

Connizzo, Brianne K., Lin Han, David E. Birk, and Louis J. Soslowsky. "Collagen V-heterozygous and -null supraspinatus tendons exhibit altered dynamic mechanical behaviour at multiple hierarchical scales." Interface Focus 6, no. 1 (February 6, 2016): 20150043. http://dx.doi.org/10.1098/rsfs.2015.0043.

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Tendons function using a unique set of mechanical properties governed by the extracellular matrix and its ability to respond to varied multi-axial loads. Reduction of collagen V expression, such as in classic Ehlers–Danlos syndrome, results in altered fibril morphology and altered macroscale mechanical function in both clinical and animal studies, yet the mechanism by which changes at the fibril level lead to macroscale functional changes has not yet been investigated. This study addresses this by defining the multiscale mechanical response of wild-type, collagen V-heterozygous and -null supraspinatus tendons. Tendons were subjected to mechanical testing and analysed for macroscale properties, as well as microscale (fibre re-alignment) and nanoscale (fibril deformation and sliding) responses. In many macroscale parameters, results showed a dose-dependent response with severely decreased properties in the null group. In addition, both heterozygous and null groups responded to load faster than in wild-type tendons via earlier fibre re-alignment and fibril stretch. However, the heterozygous group exhibited increased fibril sliding, while the null group exhibited no fibril sliding. These studies demonstrate that dynamic responses play an important role in determining overall function and that collagen V is a critical regulator in the development of these relationships.

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14

Langhinrichsen-Rohling, Jennifer, Chrystal L. Lewis, Sean McCabe, Emma C. Lathan, Gabrielle A. Agnew, Candice N. Selwyn, and Margaret E. Gigler. "They’ve been BITTEN: reports of institutional and provider betrayal and links with Ehlers-Danlos Syndrome patients’ current symptoms, unmet needs and healthcare expectations." Therapeutic Advances in Rare Disease 2 (January 2021): 263300402110220. http://dx.doi.org/10.1177/26330040211022033.

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Introduction: Patients with rare and/or care-intensive conditions, such as Ehlers-Danlos Syndrome (EDS), can pose challenges to their healthcare providers (HCPs). The current study used the BITTEN framework1 to code EDS patients’ open-ended written responses to a needs survey to determine their self-reported prevalence of healthcare institutional betrayal and its link with their expressed symptoms, provider perceptions, unmet needs, and on-going healthcare-related expectations. Methods: Patients with EDS ( n = 234) were recruited via a rare disease electronic mailing list and snowball sampling. A total of one-hundred and six respondents (45.3%) endorsed having unmet healthcare-related needs; of these, 104 (99%) completed an open-ended prompt about these needs. Responses were coded for components of BITTEN, a framework designed to link patients’ past, current, and future healthcare-related experiences in a trauma informed manner. Results: Many respondents with ongoing needs endorsed experiencing past institutional and provider betrayal (43%; n = 45), current mental health symptoms (91.4%; n = 95), negative expectations for future healthcare (40.4%; n = 62), and a lack of trust in their healthcare provider (22.1%; n = 23). There were no significant differences in post-traumatic stress disorder (PTSD)/anxiety, depression/sadness, or isolative symptoms between respondents coded for institutional betrayal ( n = 45) compared with those not ( n = 59). However, EDS respondents reporting institutional betrayal were significantly more likely to self-report anger and irritability symptoms, a lack of trust in their HCPs, and more negative expectations for future healthcare than those not reporting institutional betrayal. Discussion/conclusions: The frequent spontaneous reporting of past healthcare betrayals among patients with EDS implies the need for trauma-informed care and provider education. Given that experiences of institutional betrayal are associated with increased anger and irritability, as well as with negative expectations for future healthcare interactions, efforts to repair healthcare provider and system-wide relationship ruptures might have positive healthcare consequences. Plain language summary Reports of Institutional and Provider Betrayal and Links with Ehlers-Danlos Syndrome Patients’ Current Symptoms, Unmet Needs and Future Healthcare Expectations What is EDS? Ehlers-Danlos Syndrome (EDS) refers to a group of rare genetic connective tissue disorders that are primarily characterized by skin hyperelasticity, joint hypermobility, and tissue fragility. Connective tissue is largely responsible for the structural integrity of our bodies, and there are several EDS subtypes which each describe a specific connective tissue problem. In addition, there is significant overlap between EDS types and other kinds of connective tissue disorders. As a result, recognizing, diagnosing, and treating EDS is often challenging. What is Institutional betrayal? Institutional Betrayal here refers to a harmful action (i.e. commission) or lack of action (i.e. omission) on the part of a healthcare institution, individual provider/healthcare team, or insurance company. When a patient trusts that the healthcare system will act in their best interest, and trust is violated, institutional betrayal occurs. What is BITTEN? BITTEN is an acronym for Betrayal, Indicator, Trauma symptoms, Trust, Expectations, and Needs. It is a framework meant to capture previous problematic healthcare-related experiences in EDS patients, then to consider how those experiences influence a patient’s current symptoms, provider trust, future expectations in healthcare encounters, and on-going needs. Why was this done? EDS, like many rare diseases, is hard to recognize and manage. We aim to: Give voice to EDS patients and their common unmet needs and healthcare-related expectations. Highlight how healthcare providers can apply BITTEN to improve care practices in rare disease patient encounters. What did we do? Using a newly articulated applied model of healthcare, BITTEN, we analyzed the open-ended responses of EDS patients describing their unmet emotional and mental health needs. What did we find? Nearly half of EDS patients who indicated they had unmet needs reported experiencing institutional betrayal. EDS patients who reported institutional betrayal also expressed anger, a lack of trust in healthcare providers, negative expectations for future healthcare, and more unmet needs more frequently than EDS patients who did not report institutional betrayal. What does this mean? The EDS patients in this sample were not directly asked if they had experienced institutional betrayal, so the exact prevalence is not known. Furthermore, responses were obtained voluntarily via the internet, so caution should be taken when generalizing these findings. However, results indicate that too many patients with EDS have experienced healthcare betrayals; these experiences are associated with current anger and negative expectations for future healthcare interactions. The prevalence of past negative healthcare experiences, along with current unmet needs and future negative healthcare expectations in EDS patients who have experienced institutional betrayal, highlights the need for healthcare providers to tend to these experiences, mend patient-provider barriers, and provide higher quality healthcare.

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15

Tinkle, Brad, Marco Castori, Britta Berglund, Helen Cohen, Rodney Grahame, Hanadi Kazkaz, and Howard Levy. "Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175, no. 1 (February 1, 2017): 48–69. http://dx.doi.org/10.1002/ajmg.c.31538.

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16

GIUNTA, CECILIA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE, and BEAT STEINMANN. "Ehlers-Danlos Syndrome Type VII." Journal of Bone & Joint Surgery 81, no. 2 (February 1999): 225–38. http://dx.doi.org/10.2106/00004623-199902000-00010.

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17

Apaydin, Aysegul. "Ehlers-Danlos Syndrome (Type VIII)." Journal of Nihon University School of Dentistry 37, no. 4 (1995): 214–17. http://dx.doi.org/10.2334/josnusd1959.37.214.

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18

Urmil, AK. "Ehlers-Danlos Syndrome Type V." Medical Journal Armed Forces India 60, no. 1 (January 2004): 81–83. http://dx.doi.org/10.1016/s0377-1237(04)80171-0.

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19

DESYLVA, PLK, KM SHAH, and S. BHATTACHARYA. "EHLERS-DANLOS SYNDROME-TYPE II." Medical Journal Armed Forces India 55, no. 3 (July 1999): 245–46. http://dx.doi.org/10.1016/s0377-1237(17)30455-0.

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20

Bowen, Jessica M., Glenda J. Sobey, Nigel P. Burrows, Marina Colombi, Mark E. Lavallee, Fransiska Malfait, and Clair A. Francomano. "Ehlers-Danlos syndrome, classical type." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175, no. 1 (February 13, 2017): 27–39. http://dx.doi.org/10.1002/ajmg.c.31548.

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21

Soo-Hoo, Sarah, Brandon R. Porten, Bjorn I. Engstrom, and Nedaa Skeik. "Ehlers-Danlos Syndrome Type IV." Vascular and Endovascular Surgery 50, no. 3 (March 13, 2016): 156–59. http://dx.doi.org/10.1177/1538574416627697.

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22

De Paepe, A. "Ehlers-Danlos Syndrome Type IV." Dermatology 189, no. 2 (1994): 21–25. http://dx.doi.org/10.1159/000246984.

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23

Leung, R., and R. Russell Jones. "(6) Type VII Ehlers Danlos syndrome." British Journal of Dermatology 119, s33 (July 1988): 65–66. http://dx.doi.org/10.1111/j.1365-2133.1988.tb05409.x.

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24

Viljoen, Denis, Jack Goldblatt, Dave Thompson, and Peter Beighton. "Ehlers-Danlos syndrome: yet another type?" Clinical Genetics 32, no. 3 (June 28, 2008): 196–201. http://dx.doi.org/10.1111/j.1399-0004.1987.tb03354.x.

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25

Jayarajan, Senthil N., Brandon D. Downing, Luis A. Sanchez, and Jeffrey Jim. "Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome." Vascular 28, no. 6 (May 19, 2020): 834–41. http://dx.doi.org/10.1177/1708538120925597.

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Objectives Marfan syndrome and Ehlers-Danlos syndrome represent two connective tissue vascular diseases requiring unique consideration in their vascular surgical care. A comprehensive national review encompassing all hospitalizations for the Marfan Syndrome and Ehlers-Danlos syndrome patient population is lacking. Methods The National (Nationwide) Inpatient Sample from 2010 to 2014 was reviewed for all inpatient vascular surgery procedures including those with a diagnosis of Marfan syndrome and Ehlers-Danlos syndrome. National estimates of vascular surgery rates were generated from provided weights. Patient demographics, procedure type, and outcomes were assessed. Results There were 3103 Marfan syndrome and 476 Ehlers-Danlos syndrome vascular procedures identified as well as 3,895,381 vascular procedures in the remainder of population (control group). The percent of aortic procedures from all vascular procedures in Marfan syndrome (23.5%) and Ehlers-Danlos syndrome (23.5%) were 2.5-fold higher than controls (9.1%), p < 0.0001. Open aortic aneurysm repair was also significantly greater in both Marfan syndrome (16.8%) and Ehlers-Danlos syndrome (11.2%) compared to controls (4.4%), p < 0.0001. Endovascular aortic repair ( p < 0.2302) was similar among the groups. Marfan syndrome (7.7%) and Ehlers-Danlos syndrome (5.1%) had more thoracic endovascular aortic repair performed than controls (0.7%), p < 0.0001. Percutaneous procedures were fewer in Marfan syndrome (6.3%) than controls (31.3%) and Ehlers-Danlos syndrome (26.3%), p < 0.0001, while repair of peripheral arteries was greater in Marfan syndrome (5.9%) and Ehlers-Danlos syndrome (4.1%) than controls (1.5%), p < 0.0001. For total aortic procedures, the mean age of aortic procedures was 68.2 years in controls vs 45.8 years in Marfan syndrome and 55.3 years in Ehlers-Danlos syndrome, p < 0.0001. Marfan syndrome and Ehlers-Danlos syndrome had fewer comorbidities overall, while controls had significantly higher rates of coronary artery disease (controls 39.9% vs Marfan syndrome 8.3% and Ehlers-Danlos syndrome 13.0%, p < 0.0001), peripheral vascular disease (controls 34.5% vs Marfan syndrome 4.2% and Ehlers-Danlos syndrome 8.7%, p < 0.0001), and diabetes (controls 20.6% vs Marfan syndrome 6.6 and Ehlers-Danlos syndrome 4.4%, p < 0.0001). Marfan syndrome and Ehlers-Danlos syndrome had higher overall complication rate (65.5% and 52.2%) compared to controls (44.6%), p < 0.0001. Postoperative hemorrhage was more likely in Marfan syndrome (42.9%) and Ehlers-Danlos syndrome (39.1%) than controls (22.2%), p < 0.0001. Increased respiratory failure was noted in Marfan syndrome (20.2%) vs controls (10.7%) and Ehlers-Danlos syndrome (8.7%), p = .0003. Finally, length of stay was increased in Marfan syndrome 12.5 days vs Ehlers-Danlos syndrome 7.4 days and controls 7.2 days ( p < 0.0001) as well as a higher median costs of index hospitalization in Marfan syndrome ($57,084 vs Ehlers-Danlos syndrome $22,032 and controls $26,520, p < 0.0001). Conclusions Patients with Marfan syndrome and Ehlers-Danlos syndrome differ from other patients undergoing vascular surgical procedures, with a significantly higher proportion of aortic procedures including open aneurysm repair and thoracic endovascular aortic repair. While they are younger with fewer comorbidities, due to the unique pathogenesis of their underlying connective tissue disorder, there is an overall higher rate of procedural complications and increased length of stay and cost for Marfan syndrome patients undergoing aortic surgery.

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26

Watanabe, Atsushi, and Takashi Shimada. "The Vascular Type of Ehlers-Danlos Syndrome." Journal of Nippon Medical School 75, no. 5 (2008): 254–61. http://dx.doi.org/10.1272/jnms.75.254.

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27

Ploeckinger, Barbara, Martin Ulm, and Kinga Chalubinski. "Ehlers-Danlos Syndrome Type II in Pregnancy." American Journal of Perinatology 14, no. 02 (February 1997): 99–101. http://dx.doi.org/10.1055/s-2007-994106.

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28

Abramson, David H. "Pseudomelanoma in Ehlers-Danlos Syndrome Type IV." Archives of Ophthalmology 115, no. 9 (September 1, 1997): 1216. http://dx.doi.org/10.1001/archopht.1997.01100160386032.

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29

Spranger, Stephanie, Matthias Spranger, Klaus Kirchhof, and Beat Steinmann. "Ehlers-Danlos syndrome type VIII and leukodystrophy." American Journal of Medical Genetics 66, no. 2 (December 11, 1996): 239–40. http://dx.doi.org/10.1002/(sici)1096-8628(19961211)66:2<239::aid-ajmg23>3.0.co;2-t.

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30

Girit, Saniye, Ebru Senol, Yakup Cag, Ozge Karatas, and Tamer Baysal. "Ehlers-Danlos Syndrome Type IVB and Tracheobronchomegaly." Journal of Bronchology & Interventional Pulmonology 25, no. 1 (January 2018): 70–72. http://dx.doi.org/10.1097/lbr.0000000000000416.

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31

Plackett, Timothy P., Edward Kwon, Ronald A. Gagliano, and Robert C. Oh. "Ehlers-Danlos Syndrome—Hypermobility Type and Hemorrhoids." Case Reports in Surgery 2014 (2014): 1–3. http://dx.doi.org/10.1155/2014/171803.

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Ehlers-Danlos syndrome-hypermobility type (EDS-HT) is a connective tissue disorder associated with chronic musculoskeletal pain. The diagnosis is based on simple clinical examination, although it is easily overlooked. Herein we present a case of EDS-HT associated with hemorrhoids and suggest that there may be an association between the two conditions.

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32

Morales-Roselló, J., J. Hernandez-Yago, and M. Pope. "Type III Ehlers-Danlos syndrome and pregnancy." Archives of Gynecology and Obstetrics 261, no. 1 (December 10, 1997): 39–43. http://dx.doi.org/10.1007/s004040050196.

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33

Hammond, Rebecca, and Nicholas Oligbo. "Ehlers Danlos Syndrome Type IV and pregnancy." Archives of Gynecology and Obstetrics 285, no. 1 (May 3, 2011): 51–54. http://dx.doi.org/10.1007/s00404-011-1899-5.

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34

Kazakov, Dimitar, Georgi Pavlov, and Chavdar Stefanov. "Ehlers-Danlos Syndrome Type IV - Anaesthetic Considerations." Folia Medica 63, no. 1 (February 28, 2021): 153–55. http://dx.doi.org/10.3897/folmed.63.e53968.

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Ehlers-Danlos syndrome (EDS) is a rare disorder that occurs due to genetic defect in the collagen synthesis. The vascular subtype of EDS (type IV) is defined by characteristic facial features, translucent skin, easy bruising, and spontaneous arterial rupture and visceral perforation of such organs as the uterus and intestines, with possible life-threatening consequences. We report a case of a 15-year-old male patient with no past medical history undergoing emergency laparotomy after a spontaneous sigmoid colon perforation. Post-operatively and during the ICU stay complications developed and several revision operations and invasive procedures were necessary. A chest CT angiography revealed a right subclavian artery aneurysm, which was treated by an endovascular stent grafting. Taking into consideration the family history and clinical presentation EDS type IV was discussed as a possible cause of the patient’s condition. DNA analysis confirmed the diagnosis. Due to the lack of evidence-based recommendations the anaesthetic management of these patients is still challenging.

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35

Vos, Aimee, and Katharine Burns. "Pediatric Innominate Artery Pseudoaneurysm Rupture in Vascular Ehlers-Danlos Syndrome: A Case Report." Clinical Practice and Cases in Emergency Medicine 2, no. 5 (April 23, 2021): 226–29. http://dx.doi.org/10.5811/cpcem.2021.3.51787.

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Introduction: Ehlers-Danlos syndrome is a well classified connective tissue disorder recognized by its features of hyperextensibility of joints and hyperelasticity of the skin. However, the rare vascular type (Ehlers-Danlos type IV) is more difficult to identify in the absence, rarity, or subtlety of the classical physical features. Patients presenting to the emergency department (ED) with acute complications of vascular Ehlers-Danlos syndrome may be critically ill, requiring accurate diagnosis and tailored management. Case Report: This report details a case of spontaneous innominate artery pseudoaneurysm rupture in a pediatric patient with previously undiagnosed Ehlers-Danlos syndrome. Initial ED evaluation was followed by urgent operative intervention and subsequent genetic testing to confirm final diagnosis. Conclusion: Due to its high morbidity and mortality, vascular type Ehlers-Danlos syndrome should be considered in the differential for otherwise unexplained spontaneous vascular injury.

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36

Bateman, J. F., and S. B. Golub. "Assessment of procollagen processing defects by fibroblasts cultured in the presence of dextran sulphate." Biochemical Journal 267, no. 3 (May 1, 1990): 573–77. http://dx.doi.org/10.1042/bj2670573.

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The culture of skin fibroblasts in the presence of 0.01% (w/v) dextran sulphate results in complete proteolytic processing of procollagen to collagen. Processing occurs predominantly via a pN-collagen intermediate, suggesting that C-propeptide cleavage occurs early during the processing pathway. The processed collagen is associated with the cell-layer fraction. This method of inducing procollagen processing was evaluated for use in detecting procollagen processing abnormalities in heritable connective-tissue diseases. Abnormal type I procollagen processing was clearly demonstrated in two cases with known defects of pN-propeptide cleavage. In one, the cleavage deficiency was due to diminished N-proteinase activity (dermatosparaxis) and in the other case (Ehler's-Danlos syndrome type VIIA) the cleavage site was deleted. In a case of osteogenesis imperfecta (type II) the slow electrophoretic migration of type I collagen alpha-chains due to over-modification of lysine was readily demonstrated. Inefficient procollagen processing was also evident in this patient, as had been previously reported [de Wet, Pihlanjaniemi, Myers, Kelly & Prockop (1983) J. Biol. Chem. 258, 7721-7728]. Thus this method of culture in the presence of dextran sulphate provides a simple and rapid procedure for the detection of procollagen processing defects and electrophoretic abnormalities.

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37

Jacome, DE. "Headache in Ehlers—Danlos Syndrome." Cephalalgia 19, no. 9 (November 1999): 791–96. http://dx.doi.org/10.1046/j.1468-2982.1999.1909791.x.

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Objective: Ehlers—Danlos Syndrome (EDS) is a complex hereditary connective tissue disorder with neurologic manifestations that include cerebrovascular disorders and chronic pain. The clinical data collected on 18 patients with EDS and chronic headaches is reported. Procedure: Clinical history, neurologic examination, computerized tomography of the head, magnetic resonance imaging (MRI) of the brain, and electroencephalogram (EEG). Headaches were classified according to the International Headache Society and the patients were followed by the author for a minimum of 2 years. Findings: Four patients had migraine with aura, four had migraine without aura, four had tension headaches, four had a combination of migraine and tension headaches, and two had post-traumatic headaches. Nine patients exhibited blepharoclonus but none had history of seizures and their EEGs were normal, ruling out eye closure epilepsy. Although one patient had a small right frontal angioma, a second had Arnold Chiari malformation type I, and a third had an old stroke, headaches did not clinically correlate with their central nervous system (CNS) lesions. Conclusion: Chronic recurrent headaches may constitute the neurologic presentation of EDS in the absence of structural, congenital, or acquired CNS lesions that correlate with their symptoms. Individuals with EDS may be prone to migraine due to an inherent disorder of cerebrovascular reactivity or cortical excitability. Additional studies are needed to elucidate the pathogenesis of headaches in EDS.

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38

Schievink, Wouter I., David G. Piepgras, Franklin Earnest, and Hymie Gordon. "Spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome Type IV." Journal of Neurosurgery 74, no. 6 (June 1991): 991–98. http://dx.doi.org/10.3171/jns.1991.74.6.0991.

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✓ Spontaneous bilateral carotid-cavernous fistulae and cervical artery dissection is reported in a 20-year-old woman with Ehlers-Danlos syndrome Type IV. The clinical features of 16 previously published cases of spontaneous carotid-cavernous fistulae associated with Ehlers-Danlos syndrome Type IV are reviewed, for a total of 17 cases. The mean age of the 14 women and three men was 31.6 years. Only direct fistulae were encountered. Diagnostic neuroangiography carried morbidity and mortality rates of 36% and 12%, respectively; neuroradiological treatment resulted in death in one of six patients. The possible value of desmopressin in the management of these patients is discussed. In view of the risks of arterial puncture and surgery, the authors emphasize the importance of early recognition of Ehlers-Danlos syndrome.

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39

Pajak, Michal, Marcin A. Majos, Wojciech Szubert, Ludomir Stefanczyk, and Agata Majos. "Acute brain ischemia as a complication of the Ehlers–Danlos syndrome, the case series." Vascular 22, no. 5 (September 30, 2013): 341–45. http://dx.doi.org/10.1177/1708538113505519.

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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.

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Nakagawa, Hiroaki, Hiroshi Wada, Takashi Hajiro, Taishi Nagao, Emiko Ogawa, Atsushi Hatamochi, Toshihiro Tanaka, and Yasutaka Nakano. "Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax." Internal Medicine 54, no. 24 (2015): 3181–84. http://dx.doi.org/10.2169/internalmedicine.54.4947.

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41

Soonawalla, Z. "Type IV Ehlers-Danlos syndrome: a surgical emergency." Postgraduate Medical Journal 78, no. 922 (August 1, 2002): 501—a—502. http://dx.doi.org/10.1136/pmj.78.922.501-a.

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42

Hatake, Katsuhiko, Yoshifumi Morimura, Risa Kudo, Wataru Kawashima, Shogo Kasuda, and Hiroki Kuniyasu. "Respiratory complications of Ehlers–Danlos syndrome type IV." Legal Medicine 15, no. 1 (January 2013): 23–27. http://dx.doi.org/10.1016/j.legalmed.2012.07.005.

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43

Lauwers, Geert, André Nevelsteen, Geert Daenen, Hendrik Lacroix, Raphael Suy, and Jean-Pierre Frijns. "Ehlers-Danlos Syndrome Type IV: A Heterogeneous Disease." Annals of Vascular Surgery 11, no. 2 (March 1997): 178–82. http://dx.doi.org/10.1007/s100169900031.

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POPE, F. M. "MOLECULAR ANALYSIS OF EHLERS-DANLOS SYNDROME TYPE II." Rheumatology 30, no. 3 (1991): 163–66. http://dx.doi.org/10.1093/rheumatology/30.3.163.

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Schievink, W. I., M. Limburg, J. W. Oorthuys, P. Fleury, and F. M. Pope. "Cerebrovascular disease in Ehlers-Danlos syndrome type IV." Stroke 21, no. 4 (April 1990): 626–32. http://dx.doi.org/10.1161/01.str.21.4.626.

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46

Eder, Johanna, Franco Laccone, Marianne Rohrbach, Cecilia Giunta, Klaus Aumayr, Christofer Reichel, and Franz Trautinger. "A newCOL3A1mutation in Ehlers-Danlos syndrome type IV." Experimental Dermatology 22, no. 3 (March 2013): 231–34. http://dx.doi.org/10.1111/exd.12105.

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Prahlow, Joseph A., and Scott A. Wagner. "Death Due to Ehlers-Danlos Syndrome Type IV." American Journal of Forensic Medicine and Pathology 26, no. 1 (March 2005): 78–82. http://dx.doi.org/10.1097/01.paf.0000153997.06338.4b.

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OSTLERE, L. S., F. M. POPE, and C. A. HOLDEN. "Cutis laxa complicating Ehlers-Danlos syndrome type II." Clinical and Experimental Dermatology 21, no. 2 (March 1996): 135–37. http://dx.doi.org/10.1046/j.1365-2230.1996.d01-209.x.

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North, Kathryn N., David A. H. Whiteman, Melanie G. Pepin, and Peter H. Byers. "Cerebrovascular complications in Ehlers-Danlos syndrome type IV." Annals of Neurology 38, no. 6 (December 1995): 960–64. http://dx.doi.org/10.1002/ana.410380620.

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Hakim, Alan, Inge De Wandele, Chris O'Callaghan, Alan Pocinki, and Peter Rowe. "Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175, no. 1 (February 10, 2017): 175–80. http://dx.doi.org/10.1002/ajmg.c.31542.

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