EMERGENCY Information and Vascular Ehlers-Danlos Syndrome
IMPORTANT – Please Read!!!
Vascular Type EDS is considered the most serious form of EDS due to the possibility of arterial or organ rupture. If a patient presents with signs of chest, abdominal pain (etc.) it should be considered a TRAUMA SITUATION. Patient complaints should be immediately investigated using MRA, MRI, or CT-Scan testing — not x-rays.
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.
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.
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
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
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.
– Vascular EDS Anesthetic Consideration.pdf (scroll down page)
Vascular Ehlers-Danlos Genetic & Inheritance Information
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.
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.
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.
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 – i.e. contact sports, heavy lifting, rapid acceleration and deceleration
Make school, family, employers aware of the condition and appropriate emergency management
Follow healthy lifestyle choices
Additional Emergency and Vascular EDS Information
– Connective Tissue Disorder Research – webinar recording (Hal Dietz, MD)
– Doxycycline vascular type of Ehlers.pdf (scroll down page)
– #Reds4VEDS campaign