Vascular EDS Medical Information

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

  • Surgical and endovascular interventions are discouraged and conservative medical management preferred where possible
  • Wear medical warning bracelet inscribed 'Vascular EDS' with information on specific emergency care given to the organisation supplying the bracelet
  • Regular follow up in cardiology is advised, preferably in a specialised unit. The role of imaging and medication is still in the early stages of use and evidence is being gathered. Medication aimed at reducing the incidence of arterial rupture or dissection has been trialled
  • Need for psychological support following the diagnosis with special attention to the needs of children and adolescents requiring transitional care

Recommendations for Vascular EDS self-management

  • Avoid potentially harmful activities eg contact sports, heavy lifting, rapid acceleration and deceleration
  • Make school, family, employers aware of the condition and appropriate emergency management
  • Follow healthy lifestyle choices
Vascular EDS awareness folded leaflet
Vascular EDS Awareness Leaflet.pdf
Adobe Acrobat document [914.7 KB]

Vascular EDS in emergency situations

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:

  • CT scans or MRI’s immediately
  • No arteriographics, enemas, or endoscopies
  • Non-invasive techniques only no stress/tension on skin, organs, or vessels, ensure extreme care during physical exam or passing nasogastric tubes
  • Anesthesiologist please note: when intubating fragile mucus membranes throughout a lower peak volume pressure may be necessary
  • Vascular surgeon’s assistance anticipated in every surgery meticulous, gentle handling of internal organs, and vessels
  • Plastic surgeon’s presence may be necessary
  • Aneurysm; a small soft tipped catheter with micro coil (memory) has been successful in some cases
  • Abdominal aneurysm; Double woven velour/Teflon grafts
  • Colonic rupture; consider permanent colostomy/ileostomy to reduce the risk of recurrent perforation
  • Padded clamps with red rubber catheter covers (Fogarty Hydrogrips)
  • Use Lange’s lines for incisions; whenever possible (Teflon sutures)
  • Incision pressure; use 1/3 -to- 1/2 less pressure, with meticulous, gentle dissections and avoid tension/stress on suture lines.
  • Ligation of vessels; use surgical hemoclips and umbilical tapes and where anastomosis is required, buttressed sutures by Teflon or felt pledgets
  • If necessary the sacrifice of a non-essential organ or limb to save a life must be considered

 

Condensed Emergency Post Operative Suggestions:

  • Monitor for: peritonitis, pneumoperitoneum, and/or other infections
  • Monitor for: ruptures, cysts, and abscesses
  • Monitor for: wound dehiscence, ileus, gastrointestinal bleeding
  • Monitor for: arteriovenous and/or intestinal fistula
  • Monitor for: aneurysms, embolus, hematoma
  • Monitor for: eventration of diaphragm, pleural effusion, pneumothorax
  • Monitor liver for: bleeding, changes in pressure and/or function
  • Wound packs and abdominal binders (reduce risk of incisional hernia)
  • Monitor for: increased or erratic blood pressure
  • IV placement: may be problematic due to fragile veins (If necessary, permanent access port catheter has been used)
  • Less IV pressure: slower rate when administering fluids
  • Immediate evaluation of any change in vitals or additional complaints
  • The most non-invasive post-operative care available is recommended
  • Be vigilant; as status can change abruptly with this patient

 

Download these information sheets:

Vascular EDS - Trauma Information.pdf
Adobe Acrobat document [174.8 KB]
Vascular EDS Anesthetic Consideration.pd[...]
Adobe Acrobat document [123.7 KB]

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

 

Survival is affected by mutation type an[...]
Adobe Acrobat document [219.3 KB]
CRMVascularMedS.pdf
Adobe Acrobat document [2.7 MB]
Doxycycline vascular type of Ehlers.pdf
Adobe Acrobat document [186.1 KB]
Checkout

Our office hours

Monday - Friday09:00 - 18:00
Reg Charity No. 1157074

Print Print | Sitemap
© Copyright 2013-2017 Annabelles Challenge. UK Registered Charity No.1157074 Tel: 0161 207 8337 Email: info@annabelleschallenge.org