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.

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

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.

– Trauma Information

Ritter’s Rules

EDNF’s Vascular EDS Emergency Information

Vascular EDS – Trauma Information.pdf

Vascular EDS Anesthetic Consideration.pdf (scroll down page)

I have EDS, now what? 

 

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.

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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 diagnoIMG_6015sis 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

Clinical Reference Manual for Vascular EDS

Vascular EDS Medical Resource Guide

EDNF’s Vascular EDS Quick Reference Guide

EDNF’s Understanding Vascular Complications

Connective Tissue Disorder Research – webinar recording (Hal Dietz, MD)

Surgery and Ehlers-Danlos Syndrome

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV) (Scroll down page)

Doxycycline vascular type of Ehlers.pdf (scroll down page)

#Reds4VEDS campaigncache_43550250

Vascular Ehlers-Danlos Syndrome 2017 International Symposium

Annabelle’s Challenge (VEDS Foundation)

 

 

 

Information: Annabelle’s Challenge & Ehlers Danlos National Foundation