Glenda Sobey, Consultant Dermatologist, Lead Clinician EDS National Dianostic Service.
The diagnosis of vascular EDS carries with it life threatening risks of blood vessel and organ rupture, sometimes in childhood. The clinical features typical of vascular EDS may be subtle or absent, making diagnosis difficult particularly where there is no positive family history. Sudden death in the third or fourth decade of life can be the presenting feature.
A diagnosis of vascular EDS needs to be excluded in any patient where an unexplained arterial rupture or bowel rupture has occurred. This is usually important where the diagnosis is NOT vascular EDS as a wide range of interventional procedures (which would be contraindicated and potentially lethal in vascular EDS) is then available to the patient.
The major risks for patients with vascular EDS are arterial (including aortic) dissection, rupture and aneurysm. The sigmoid colon is the commonest site for bowel rupture - this can be seen at all ages. Obstetric complications include uterine and arterial rupture as well as massive postpartum haemorrhage and severe lacerations from tearing at vaginal delivery.
Vascular EDS is caused by mutations in the COL3A1 gene which encodes type III collagen. Molecular Genetic testing is highly sensitive and specific for vascular EDS. Accurate prognostication by genotype-phenotype correlation has been extensively investigated but is not yet reliable. Parental mosaicism is recognised and can explain unexpected inheritance patterns. There are also characteristic changes on electron microscopy of skin with marked collagen diameter variability.
Recommendations for Vascular EDS medical management
Recommendations for Vascular EDS self-management
Here is a condensed list of life-saving surgical and post-operative suggestions for patients with vascular EDS. Although considered rare, clinical diagnosis of EDS Vascular is often difficult.
In a trauma situation do not assume that your EDS patient has been typed correctly. Vascular EDS is a life-threatening connective tissue disorder that affects all tissue, arteries and internal organs making them extremely fragile.
Roughly 1/2 of all cases of vascular EDS are new mutations with no family history. The other 1/2 is familial, inherited from an affected parent. Vascular EDS is autosominal dominant.
Condensed List of Life-Saving Surgical Suggestions:
Condensed Emergency Post Operative Suggestions:
Download these information sheets:
Information on vascular EDS Emergencies
Arterial or intestinal rupture commonly presents as acute abdominal or flank pain that can be diffuse or localised.
Spontaneous arterial rupture is most likely to occur in a person’s twenties or thirties, but can occur at any point in life.
Cerebral arterial rupture may present with altered mental status and be mistaken for drug overdose.
Mid-size arteries are commonly involved.
Arterial, intestinal, or uterine fragility or rupture usually arise in EDS Vascular type, but should be investigated for any EDS type.
Cartoid-Cavernous Fistula: Life-Threatening Emergency
Emergency consideration should be given to any vascular EDS patient who becomes aware of redness, pain and prominence of one or both eyes and the sound of pulsations in their head: this can be a manifestation of a life-threatening carotid-cavernous fistula.
In this emergency condition, high pressure blood from the internal carotid artery can pass directly into veins behind the eye, which shunts blood inappropriately into the tissue around the eyes and into the eye itself, thereby causing the presenting symptoms.
The greater risk is that the high pressure blood will leak out of the confines of the blood vessels and that could be life-threatening.
It is absolutely critical to seek immediate hospital-based medical attention, and to inform emergency medical staff of the patient’s vascular EDS and the risk of a carotid-cavernous fistula.
Information: Ehlers Danlos National Foundation