[Abdominal emergencies in type IV ehlers-Danlos syndrome]

Related Experiment Video

Updated: Oct 12, 2026

A Case Series of Successful Abdominal Closure Utilizing a Novel Technique Combining a Mechanical Closure System with a Biologic Xenograft that Accelerates Wound Healing
00:20

A Case Series of Successful Abdominal Closure Utilizing a Novel Technique Combining a Mechanical Closure System with a Biologic Xenograft that Accelerates Wound Healing

Published on: July 4, 2019

Z A Benchellal1, N Huten, E Danquechin Dorval

  • 1Service de Chirurgie Générale et Digestive, Hôpital Trousseau, CHU, Tours.

Gastroenterologie Clinique Et Biologique
|October 8, 1998
PubMed

Insights

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders. Type IV EDS, caused by COL3A1 gene mutations, is life-threatening due to vascular and bowel fragility.

Area of Science:

  • Genetics
  • Vascular Biology
  • Connective Tissue Diseases

Background:

  • Ehlers-Danlos syndrome comprises nine inherited connective tissue disorders.
  • Type IV Ehlers-Danlos syndrome is the most severe form, characterized by collagen III deficiency.
  • This deficiency leads to arterial fragility, vascular rupture, and bowel perforation.

Observation:

  • A 44-year-old woman with a history of bowel necrosis and two vascular ruptures was diagnosed with Type IV Ehlers-Danlos syndrome.
  • Her condition was linked to a mutation in the COL3A1 gene.
  • The patient's medical history highlights the severe complications associated with this condition.

Findings:

  • Type IV Ehlers-Danlos syndrome results from a deficiency in type III collagen.
  • COL3A1 gene mutations are the underlying cause of this specific EDS type.
  • Diagnosis requires specific clinical and genetic data.

Implications:

  • Early diagnosis and management are crucial for patients with Type IV Ehlers-Danlos syndrome.
  • Understanding COL3A1 mutations aids in diagnosing and managing vascular complications.
  • Guidelines for patient management are essential for improving outcomes in this life-threatening condition.

More Related Videos

Manufacturing Abdominal Aorta Hydrogel Tissue-Mimicking Phantoms for Ultrasound Elastography Validation09:32

Manufacturing Abdominal Aorta Hydrogel Tissue-Mimicking Phantoms for Ultrasound Elastography Validation

Published on: September 19, 2018

Novel and Innovative Hybrid Technique for Type A Aortic Dissection06:26

Novel and Innovative Hybrid Technique for Type A Aortic Dissection

Published on: March 28, 2025

Related Concept Videos

Esophageal Perforation-I: Introduction01:22

Esophageal Perforation-I: Introduction

Esophageal perforation is a severe medical condition characterized by a breach in the integrity of the esophageal wall. This breach can occur due to various factors such as trauma, medical procedures, or underlying diseases. When the esophageal wall is compromised, it allows food, fluids, and digestive juices into the chest cavity or adjacent structures, leading to potential complications and health risks.
The location of esophageal perforation can vary, occurring anywhere along the esophagus.
Esophageal Perforation-II: Clinical Manifestations and Management01:28

Esophageal Perforation-II: Clinical Manifestations and Management

Esophageal perforations manifest in various clinical forms, influenced by factors such as the perforation's cause and location (cervical, intrathoracic, or intra-abdominal), the extent of contamination, and potential injury to adjacent mediastinal structures. The timing between the perforation occurrence and treatment initiation also affects the clinical presentation.
Clinical Manifestations:
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...
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 abuse, or...
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...
Hiatal Hernia01:25

Hiatal Hernia

A hiatal hernia is the abnormal protrusion of the stomach or other abdominal organs through the esophageal hiatus of the diaphragm into the thoracic cavity.Normally, the gastroesophageal junction (GEJ) lies below the diaphragm and is supported by the phrenoesophageal membrane, the diaphragmatic crura, and connective tissues. Weakening of these structures—due to aging, congenital defects like a short esophagus, or increased intra-abdominal pressure from coughing, obesity, pregnancy, or heavy...