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 Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix

1995 ◽  
Vol 311 (3) ◽  
pp. 939-943 ◽  
Author(s):  
A A Chiodo ◽  
D O Sillence ◽  
W G Cole ◽  
J F Bateman
Keyword(s):  
Extracellular Matrix ◽  
Triple Helix ◽  
Type Iii Collagen ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iii ◽  
Type Iv ◽  
Col3a1 Gene ◽  
Collagen Molecules ◽  
Danlos Syndrome

A novel heterozygous mutation of the COL3A1 gene that encodes the alpha 1(III) chains of type III collagen was identified in a family with the acrogeric form of Ehlers-Danlos syndrome type IV (EDS-IV). Cultured dermal fibroblasts produced normal and shortened alpha 1(III) chains. The triple helix of the latter chain was shortened owing to a 33 amino acid deletion of Gly-184 to Pro-216. The corresponding region of cDNA lacked 99 base pairs from nucleotides 1051 to 1149. The deletions corresponded exactly to the normal sequence encoded by exon 17 of the COL3A1 gene. The proband was heterozygous for a T to G transversion at position +2 of intron 17, which resulted in skipping of exon 17. The splicing defect was not corrected by growing the fibroblasts at 33 degrees C and no other splicing variants were identified at 33 or 37 degrees C. The affected brother had the same mutation but his unaffected mother did not. Heterotrimeric type III collagen molecules containing normal and mutant chains were retained within the cell. The mutant homotrimeric molecules were modified and secreted normally and were thermally stable. These normal characteristics of the mutant homotrimers suggested that the loss of ten Gly-Xaa-Yaa triplets (where Gly-Xaa-Yaa is a repetitive amino acid triplet structure in which Xaa and Yaa are other amino acids, proline and hydroxyproline being more common in the Yaa position) did not adversely affect the formation and stability of the triple helix or the structural requirements for secretion. However, the mutant homotrimers were not incorporated into the extracellular matrix of an in vitro model of EDS-IV dermis. The EDS-IV phenotype in this family was probably due to a deficiency in the amount of normal type III collagen available for formation of the heterotypic collagen fibrils of the extracellular matrix. Intracellular and extracellular quality-control mechanisms prevented the incorporation of heterotrimeric and homotrimeric mutant type III collagen molecules into the cross-linked extracellular matrix.

A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome

2008 ◽  
Vol 300 (9) ◽  
pp. 525-529 ◽  
Author(s):  
Osamu Okamoto ◽  
Tadasuke Ando ◽  
Atsushi Watanabe ◽  
Fuminori Sato ◽  
Hiromitsu Mimata ◽  
...  
Keyword(s):  
Point Mutation ◽  
Type Iii Collagen ◽  
Collagen Gene ◽  
Ehlers Danlos Syndrome ◽  
Type Iii ◽  
Vascular Type ◽  
Danlos Syndrome

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 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 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).

Fatal Hemorrhage during Nephrolithotomy in a Patient with Unknown Vascular Ehlers-Danlos Syndrome Type IV

2005 ◽  
Vol 72 (3) ◽  
pp. 344-347
Author(s):  
S. Zaramella ◽  
S. Rocca Rossetti ◽  
A. Tizzani ◽  
B. Frea
Keyword(s):  
Renal Calculi ◽  
Connective Tissue Disorder ◽  
Syndrome Type ◽  
Connective Tissues ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Gene Coding ◽  
Fatal Hemorrhage ◽  
Life Threatening ◽  
Danlos Syndrome

Ehlers-Danlos syndrome type IV (vascular EDS), is a life-threatening inherited connective tissue disorder resulting from mutations in the COL3A1 gene coding for type III procollagen. Vascular EDS causes severe fragility of connective tissues. We report a case of a 26-year-old male with bilateral staghorn renal calculi, the patient underwent a left nephrolithotomy, during the suspension of the renal artery incredibly, it was lacerated by the vessel loop, without any actraction. Subsequently, all hemostatic attempts, although gentle, resulted in important and catastrophic aortic and caval injures; the patient died due to an uncontrollable abdominal and thoracic hemorrhage. The early diagnosis of the vascular EDS is difficult if there are no known cases. Every surgical procedure in patients with Enlers-Danlos syndrome has a high risk of fatal vascular injuries.

Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV

1999 ◽  
Vol 2 (1) ◽  
pp. 86-93 ◽  
Author(s):  
Margaret H. Collins ◽  
Ulrike Schwarze ◽  
David F. Carpentieri ◽  
Paige Kaplan ◽  
Katherine Nathanson ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Muscularis Propria ◽  
Adolescent Male ◽  
Type Iii Collagen ◽  
Elastic Tissue ◽  
Ehlers Danlos Syndrome ◽  
Type Iii ◽  
Type Iv ◽  
Col3a1 Gene ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS) type IV is a heritable disorder resulting from mutations in the COL3A1 gene that cause deficient production of type III collagen. Clinical manifestations of EDS type IV include hypermobility of small joints, excessive bruisability, thin translucent skin, poor wound healing, bowel rupture, and vascular rupture that is often fatal. A 14-year-old male without a family history of EDS died following multiple bowel and abdominal blood vessel ruptures. Even in areas apart from rupture sites, the bowel wall was thin because of diminished submucosa and muscularis propria. Similarly, the walls of blood vessels in bowel submucosa and elsewhere in the abdomen varied in thickness, and contained frayed and fragmented elastic tissue fibers. Fibroblasts cultured from the patient's skin secreted reduced quantities of type III collagen that was explained by a point mutation in one copy of the COL3A1 gene. EDS type IV should be strongly suspected in any patient with otherwise unexplainable bowel and/or vessel rupture.

Sign in / Sign up

Export Citation Format

Share Document