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.

Peripartum considerations and challenges in the management of type IV Ehlers-Danlos syndrome

2021 ◽  
Vol 14 (7) ◽  
pp. e239916
Author(s):  
Hazarathamma Makam ◽  
Farah Siddiqui ◽  
Asmita Patwardhan ◽  
Anil Darbar
Keyword(s):  
Connective Tissue Disorder ◽  
Interesting Case ◽  
Arterial Aneurysm ◽  
Excessive Bleeding ◽  
Ehlers Danlos Syndrome ◽  
Cerebrovascular Complications ◽  
Tertiary Centre ◽  
Type Iv ◽  
Life Threatening ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is an uncommon heterogenous autosomal dominant multisystemic connective tissue disorder, which may potentially present with life-threatening emergencies. The prevalence of EDS of all subtypes is from 1 in 10 000 to 1 in 20 000. Pregnancy in women with type IV EDS poses significant challenges, necessitating the care of multidisciplinary team. Potential complications of type IV EDS include arterial dissection, arterial aneurysm, visceral rupture, excessive bleeding, tissue fragility and delayed wound healing. We present an interesting case of a pregnant woman with type IV EDS who had previous cerebrovascular complications and had a successful delivery in our tertiary centre following a collaborative approach to her care.

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

Ehlers-Danlos syndrome type IV: Keloidal plaques of the lower extremities, amniotic band limb deformity, and a new mutation

2007 ◽  
Vol 56 (2) ◽  
pp. S53-S54 ◽  
Author(s):  
Cynthia J. Burk ◽  
Cheryl Aber ◽  
Elizabeth Alvarez Connelly
Keyword(s):  
Lower Extremities ◽  
Syndrome Type ◽  
New Mutation ◽  
Ehlers Danlos Syndrome ◽  
Limb Deformity ◽  
Amniotic Band ◽  
Type Iv ◽  
Danlos Syndrome

scholarly journals Spontaneous rupture of the renal artery in a patient with ehlers-danlos syndrome type IV

1997 ◽  
Vol 13 (5) ◽  
pp. 509-512 ◽  
Author(s):  
O. Øyen ◽  
O.P. Clausen ◽  
I.B. Brekke ◽  
A. Bakka ◽  
F.M. Pope
Keyword(s):  
Renal Artery ◽  
Spontaneous Rupture ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

Cerebrovascular complications in Ehlers-Danlos syndrome type IV

1995 ◽  
Vol 38 (6) ◽  
pp. 960-964 ◽  
Author(s):  
Kathryn N. North ◽  
David A. H. Whiteman ◽  
Melanie G. Pepin ◽  
Peter H. Byers
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Cerebrovascular Complications ◽  
Type Iv ◽  
Danlos Syndrome

Bilateral Vertebral Artery Dissection and Unilateral Carotid Artery Dissection in Case of Ehlers-Danlos Syndrome Type IV

2019 ◽  
Vol 121 ◽  
pp. 83-87 ◽  
Author(s):  
Tomotaka Ohshima ◽  
Shigeru Miyachi ◽  
Taiki Isaji ◽  
Naoki Matsuo ◽  
Reo Kawaguchi ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Vertebral Artery ◽  
Vertebral Artery Dissection ◽  
Carotid Artery Dissection ◽  
Artery Dissection ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

scholarly journals Genetic Analysis of Three Korean Patients with Clinical Features of Ehlers-Danlos Syndrome Type IV

2007 ◽  
Vol 22 (4) ◽  
pp. 698 ◽  
Author(s):  
Jeong Hoon Yang ◽  
Seung-Tae Lee ◽  
Jee-Ah Kim ◽  
Sung Hae Kim ◽  
Shin-Yi Jang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Features ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Korean Patients ◽  
Type Iv ◽  
Danlos Syndrome

Neuromuscular Manifestations in a Patient with Ehlers-Danlos Syndrome Type IV

2009 ◽  
Vol 11 (2) ◽  
pp. 81-87 ◽  
Author(s):  
Alexandru Barboi ◽  
Cedric Dennis ◽  
Michael Timins ◽  
Wendy Peltier ◽  
Craig M Klotz ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

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.

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