scholarly journals VASCULAR EHLERS-DANLOS SYNDROME IN A 38-YEAR-OLD WOMAN

2018 ◽  
pp. 105-108
Author(s):  
E. G. Malayeva ◽  
E. E. Karpenko ◽  
E. V. Tsitko
Keyword(s):  
Connective Tissue ◽  
Autosomal Dominant ◽  
Specific Treatment ◽  
Autosomal Dominant Disorder ◽  
Ehlers Danlos Syndrome ◽  
Clinical Criteria ◽  
Vascular Type ◽  
Col3a1 Gene ◽  
Danlos Syndrome ◽  
Procollagen Iii

Vascular Ehlers-Danlos syndrome is a rare inherited autosomal dominant disorder of connective tissue caused by a mutation in the procollagen III gene (COL3A1 gene). Among all the types of the disease the vascular type involves ~5-10% of cases. The diagnosis is based on clinical criteria and mutations in the COL3A1 gene. The treatment of Ehlers-Danlos syndrome is symptomatic, there is no specific treatment.

scholarly journals Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Filipa Pereira ◽  
Teresa Cardoso ◽  
Paula Sá
Keyword(s):  
Renal Artery ◽  
Cardiopulmonary Arrest ◽  
Fatal Outcome ◽  
Vascular Complication ◽  
Autosomal Dominant Disorder ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Recent Diagnosis ◽  
The Right ◽  
Danlos Syndrome

Ehlers-Danlos syndrome(EDS) is a rare heterogeneous group of connective tissue disorders. The vascular type (vEDS) is an autosomal dominant disorder caused by heterozygous mutations in theCOL3A1gene predisposing to premature arterial, intestinal, or uterine rupture. We report a case of a 38-year-old woman with a recent diagnosis of vEDS admitted in the Emergency Department with a suspicion of a pyelonephritis that evolved to a cardiopulmonary arrest. A fatal retroperitoneal hematoma related with a haemorrhagic dissection of the right renal artery was found after emergency surgery. This case highlights the need to be aware of the particular characteristics of vEDS, such as a severe vascular complication that can lead to a fatal outcome.

Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage

2021 ◽  
Vol 14 (7) ◽  
pp. e243132
Author(s):  
Inês Pimenta ◽  
Rita Varudo ◽  
Filipa Castelao ◽  
Filipe André Gonzalez
Keyword(s):  
Subarachnoid Haemorrhage ◽  
Medical History ◽  
Type Iii Collagen ◽  
Aneurysmal Subarachnoid Haemorrhage ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Gene Coding ◽  
Col3a1 Gene ◽  
Life Threatening ◽  
Danlos Syndrome

Vascular Ehlers-Danlos syndrome is caused by mutations of COL3A1 gene coding for type III collagen. The main clinical features involve a propensity to arterial tears leading to several life-threatening conditions and intensive care unit admission. We, herein, report the case of a 34-year-old woman presenting with an aneurysmal subarachnoid haemorrhage. Endovascular coil treatment was attempted; however, the procedure was complicated by dissection of the left iliac artery and abdominal aorta. Hospital management was marked by a series of vascular and haemorrhagic complications. These events, together with some distinctive physical features and medical history, raised the suspicion of vascular type of Ehlers-Danlos syndrome. Neurological evolution was not favourable, and the patient evolved to brain death. Genetic testing was available postmortem and identified a mutation in the COL3A1 gene. This case illustrates the importance of medical history and clinical suspicion for diagnosis, which often goes unnoticed until major complications occur.

scholarly journals Spontaneous perforation of the stomach and duodenum in children with Ehlers‑Danlos syndrome

2021 ◽  
Vol 1 (1) ◽  
pp. 176-182
Author(s):  
M. A. Amanova ◽  
A. N. Smirnov ◽  
V. V. Kholostova ◽  
A. G. Mannanov ◽  
S. A. Voina ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Collagen Synthesis ◽  
Soft Tissues ◽  
Clinical Manifestations ◽  
Elastic Fibers ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
The Individual ◽  
Rupture Of The Spleen ◽  
Danlos Syndrome

Ehlers-Danlos syndrome is based on hereditary systemic dysfunction of the connective tissue caused by impaired collagen synthesis. Depending on the individual mutation, the clinical manifestations of the syndrome can range from mild to life-threatening. The result of a violation of collagen synthesis is the proliferation of elastic fibers, loss of compactness and disorientation of collagen fibers, fragility of the vessel wall and expansion of their lumen. And, given that connective tissue fibers are present in almost every organ, the manifestations of Ehlers-Danlos syndrome are polymorphic and generalized, which often complicates the verification of this disease. The most clinically important is the Ehlers-Danlos Syndrome IV (vascular) type, which occurs as a result of mutations in the COL3A1 and COL1A1 genes and manifests itself in a tendency to spontaneous rupture of large arteries and hollow organs (intestinal perforation, strokes, rupture of the spleen, etc.), poor wound healing, fragility soft tissues, impaired hemostasis. The article describes our own experience of treating 4 patients with spontaneous ruptures of internal organs, including those of a recurrent nature.

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

scholarly journals A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family

2017 ◽  
Vol 51 (3) ◽  
pp. 141-145 ◽  
Author(s):  
Francesca Cortini ◽  
Barbara Marinelli ◽  
Silvia Romi ◽  
Agostino Seresini ◽  
Angela Cecilia Pesatori ◽  
...  
Keyword(s):  
Collagen Type ◽  
Genetic Test ◽  
Connective Tissue Disorder ◽  
Incomplete Penetrance ◽  
Collagen Type Iii ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Col3a1 Gene ◽  
Danlos Syndrome ◽  
Generation Sequencing

Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.

scholarly journals Vascular Type of Ehlers–Danlos Syndrome – a Rare Monogenic Connective Tissue Disease

2021 ◽  
Vol 65 (6) ◽  
pp. 84-90
Author(s):  
А. N. Semyachkina ◽  
E. А. Nikolaeva ◽  
I. S. Dantsev ◽  
L. P. Melikyan ◽  
M. S. Pavlova
Keyword(s):  
Connective Tissue ◽  
Clinical Diagnosis ◽  
Mineral Metabolism ◽  
Molecular Genetic ◽  
Pathogenic Mutation ◽  
Type Iii Collagen ◽  
Ehlers Danlos Syndrome ◽  
Vascular Walls ◽  
Vascular Type ◽  
Danlos Syndrome

The Ehlers-Danlos syndrome is a rare (orphan) disease characterized by the connective tissue dysplasia, fragility of the blood vessels and tissues, and variable clinical pattern. The vascular type of Ehlers-Danlos syndrome, which belongs to Group A according to the classification of 2017, is caused by the mutations in gene of alpha-1 chain of type III collagen COL3A1. The disease is characterized by the high mortality rate of the patients due to the spontaneous ruptures of the vascular walls and hollow viscera. The International Consortium (2017) developed the criteria for the clinical diagnosis of the vascular type of Ehlers – Danlos syndrome. The clinical case of the 16-year-old male patient with vascular type of Ehlers – Danlos syndrome is presented. The molecular genetic testing revealed in the child the previously described pathogenic mutation of splice site p.Gly798_Pro815del of COL3A1 gene associated with the severe course of the disease. In spite of the set of therapy measures aimed at the vascular reinforcement, stimulation and normalization of energy and mineral metabolism, the death occurred in 10 months due to the rupture of the aorta and renal artery. The Conclusion of the forensic medical examination is presented. The results of the care presented indicate that in order to avoid the omission of patients, it is advisable to revise the minimum set of signs required for the clinical diagnosis.

scholarly journals Hemodynamic Instability after Low-Energy Thigh Contusion Caused by Injury to the Femoral Artery: A Case Report and Literature Review

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Juan Miguel Rodríguez-Roiz ◽  
José Ballesteros-Betancourt ◽  
Raquel García-Tarriño ◽  
Victor Antonio Rodríguez-Roiz ◽  
Manuel Llusa
Keyword(s):  
Hemodynamic Instability ◽  
High Energy ◽  
Low Energy ◽  
Haemodynamic Instability ◽  
Vessel Occlusion ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Vascular Type ◽  
Col3a1 Gene ◽  
Danlos Syndrome

Acute vascular injuries have been described in relation to high-energy trauma accidents or in patients undergoing surgery in the femoral area. We describe a healthy patient who sustained a direct, low-energy contusion in the thigh and presented haemodynamic instability. Arteriography was used to locate the point of bleeding, and embolisation and vessel occlusion were carried out to stop the haemorrhage. The genetic study identified the COL3A1 gene mutation; accordingly, the patient was diagnosed with the Ehlers-Danlos syndrome type IV (vascular type).

scholarly journals Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

1991 ◽  
Vol 266 (8) ◽  
pp. 5244-5248
Author(s):  
H Vissing ◽  
M D'Alessio ◽  
B Lee ◽  
F Ramirez ◽  
P H Byers ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome ◽  
Procollagen Iii

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.

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