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

Inês Pimenta1, Rita Varudo1, Filipa Castelao2

  • 1Intensive Care Department, Hospital Garcia de Orta EPE, Almada, Portugal.

BMJ Case Reports
|July 6, 2021
PubMed

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.

Related Concept Videos

Esophageal Varices-I: Introduction01:24

Esophageal Varices-I: Introduction

Esophageal varices are dilated, tortuous veins which are found mainly in the submucosa of the lower esophagus but which may also appear higher up or extend into the stomach. They develop due to increased pressure in the portal venous system, often as a result of liver cirrhosis. This condition scars and damages the liver, impeding normal blood flow through the portal vein. To compensate, blood seeks alternative pathways, forming fragile new vessels (varices) in the esophagus and stomach. These...
518
Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
58
Esophageal Varices-II: Clinical Features and Management01:28

Esophageal Varices-II: Clinical Features and Management

Esophageal varices often manifest as gastrointestinal bleeding episodes, presenting symptoms like hematemesis (vomiting of blood), hematochezia (passing fresh blood via the rectum), and melena (black, tarry stools). Other signs can include weight loss, anorexia, abdominal discomfort, jaundice, pruritus, altered mental status, and muscle cramps.
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...
195
Aneurysm I: Introduction01:30

Aneurysm I: Introduction

An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
88
Aneurysm III: Interprofessional Care01:26

Aneurysm III: Interprofessional Care

Aneurysm management involves either conservative medical therapy or surgical intervention, depending on the size and symptoms of the aneurysm. Conservative management is generally reserved for smaller, asymptomatic aneurysms, while larger or symptomatic aneurysms often necessitate surgical repair.Conservative Medical TherapyFor small, asymptomatic aneurysms, particularly abdominal aortic aneurysms (AAA) less than 5.5 centimeters in diameter, conservative medical therapy is recommended. This...
64
Aneurysm IV: Nursing Management01:22

Aneurysm IV: Nursing Management

Vigilant monitoring for aneurysm rupture is essential for patients undergoing aortic surgery.Preoperative Nursing ManagementContinuously monitor the patient for manifestations of aneurysm rupture, such as pallor, weakness, tachycardia, hypotension, abdominal, back, groin, or periumbilical pain, changes in consciousness, and a pulsating abdominal mass. Regularly assess the patient's peripheral pulses.Instruct the patient to consume a clear liquid diet the day before surgery and administer...
63