DIAGNOSIS

In 2012 I saw a Clinical Pharmacologist/vascular specialist about my already diagnosed Dysautonomia. As a result I got diagnosed with Ehlers-Danlos type 4… the vascular type.

INCIDENCE

Ehlers Danlos Syndrome has a range of types, all are collagen disorders. It is presently thought that most forms of EDS affect around 1 in 5000 people. The vascular form is EDS4, also called EDSIV or VEDS. This form is presently thought to affect 1 in around 25,000 people. Unlike most forms of EDS, VEDS is known to shorten life span.

FAMILY HISTORY
EDS IV is usually familial, can skip a generation, skip some siblings but can also spontaneously appear in a family its never occurred in – called a de novo mutation. One of my cousins dislocated both hips at age 5 and later survived burst brain aneurisms in her early 30s, another survived uterine rupture in her mid 30s, another survived spleen rupture at age 24, and my brother had diverticulitis which in folks with EDS4 can be the forerunner to bowel rupture.

LIFE EXPECTANCY
I refuse to see EDS IV as a death sentence. Whilst average life expectancy is 40, some have made it to their fifties and still going to 65. Another lived to 73 years old. Whilst EDS IV is generally thought of as autosomal dominant, in some people its apparently polygenic, meaning the severity any family member gets may depend on the mix of mutations both parents contribute.

SYMPTOMS

EDS can commonly go with dysautonomic issues and the arthralgia. Vascular EDS is not good news but probably explains a lot of my health complications including on the gut and immune front… so I’m glad I’ve been supplementing since late childhood. It would also explain my generally ‘shy veins’ (7 tries for a vein before they went for my feet, only baby needles work and I need to immerse my hand in hot water for 10 min before we have any luck), the 15 cm bruise I had from the IV during chemo, the abdominal adhesions found during my ovary op in my 30s (the perplexed surgeon thought I must have had previous multiple abdominal surgeries), why one of my healed mastectomy scars has widened (the middle of it is now 1 inch in width), the umbilical hernia I got in my 30s, my spine issues, the bowel issues, the popping veins in my fingers, CFS/FM history, tendency to edema, joint (ankles, knees, hips) subluxations since my 20s, diagnosis with juvenile arthritis in late childhood, and upper respiratory tract infections, hemoptysis (coughing up specks of blood) at age 2-3, very easy large bruises, being extremely pale, bleeding gums and circulatory issues since childhood, pulsatile tinnitus, and of course ongoing inflammation challenges etc. The two benefits were hypermobility in my spine (I can get my feet to my shoulders), hips (can still do the splits) and shoulder joints (can link my arms up my back) but not much use except for momentarily impressive party tricks and young looking skin (I easily pass for 10 years younger than I am).

EDS AND AUTISM

EDS does have some overlap with autism so the two can occur and the child of one of my cousins is hypermobile, has some of the health picture of EDS and is dx’d with autism. So in case this is undx’d in other families I’m sharing the info.

Sure, in addition to Autism, maybe as part of it, I’ve lived with primary immune deficiencies, food allergies, a dodgy bowel, growth problems, severe sudden abdominal stabbing pains (later profuse abdominal adhesions were found) the juvenile arthritis, then CFS/Fibromyalgia, then the life long symptoms of dysautonomia flared, I got Breast Cancer, came through it and got diagnosed with degenerative Spinal Stenosis the then Central Apnea. But EDS 4 is probably not an additional condition, it is probably the underlying foundations that either caused, predisposed or increased the likelihood of everything else.

LIVING WITH VEDS

I know EDS IV is meant to be a ‘death sentence’ but I actually feel really lucky! I have really enjoyed the good, bad and ugly. I’ve made the most of my life, its been a wonderful ride, a wild ride, an adventure. I have known all the textures, colors, highs and lows. I have made the best with all I have. I am the master of ‘take shit and make sculptures’. So if EDS 4 burst a few veins tomorrow and killed me, or ruptured my bowel, well so be it. If only 2% of those who have bowel rupture die from it and an ostomy bag could be my future, so what! I’d still get to enjoy life till it was just not going to sustain me any more.

Other folks with EDS 4 died by their teens, 20s, 30s, 40s… I’m 49 so having a very long life with it! Also many have far worse health issues with it that me. I have ambition to become the oldest living person with EDS 4. A woman aged 58 wrote she is the oldest her doctor knows of. Then I read a post by a woman who is 65 with EDS 4 and then I heard from others in their 50s and heard of a man who made it to 68… sure doing it real tough by then with fall apart syndrome… but at 49 they make me feel not like I have a death sentence hanging over me, but like I have a longevity challenge to live up to.

Dysautonomic issues, (difficulty regulating temperature, heart rate, BP, digestion, bowel/bladder, swallowing, breathing) are common in POTS as part of EDS but central apnea is not. Progressively supplementation of sodium, citrulline, calcium, magnesium got the dysautonomic issues regulated again leading to suspicion of salt wasting. Whilst on 8000mg sodium had blood and urine sodium checked… the levels were normal… yes, on 8000mg sodium. Doc confirmed salt wasting. Checked aldosterone levels, which with 8000mg sodium should be suppressed. Nope, the levels were normal, generally indicating hyperaldosteronism. Looked up some of the causes… one of which is renal artery degeneration in EDS4. Will get a CT angio to see how that’s going but essentially I’m storing all that sodium…. not a good plan and risks kidney damage. And if the renal arteries are in bad shape operating to repair them has around a 20% mortality risk… hmm… so I looked up what its like to die from arterial rupture… a sharp stabbing pain then progressive weakness and unconsciousness in 10-40 min followed by death if not reaching intensive care… compared to a slow death from cancer this didn’t sound to horrible. I’m in no hurry to be out of here, but just in case I am, I wanted to put it on the record that I felt ok about that, no regrets.

VEDS AND HOPE
My husband came across an article about the use of Doxycycline in mice with EDS IV. It was found to reduce aortic aneurisms three fold. I was put on prophylactic Doxycycline daily since 2009 because of IgG2 deficiency. Nobody knew then that I also had EDS IV. Did it help delay or reduce my issues? I’m going to follow the mice and stay on the Doxy.

Here’s info on Ehlers-Danlos type 4 (vascular type):

This type is generally regarded as the most serious form of EDS due to the possibility of arterial or organ rupture. The skin is usually thin and translucent with veins being seen through the skin. This is most apparent over the chest and abdomen. There are certain facial characteristics present in some affected individuals. These manifestations include large eyes, thin nose, lobeless ears, short stature and thin scalp hair. Also evident is a decrease in subcutaneous tissue, particularly in the face and extremities. Minor trauma can lead to extensive bruising.

Arterial/intestinal/uterine fragility or rupture commonly arise in this type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier. Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Acute diffuse or localized abdominal or flank pain is a common presentation of arterial or intestinal rupture. Life expectancy is shortened with a majority of individuals living only into their forties. Pregnancies maybe complicated by intra-partum uterine rupture and pre- and postpartum arterial bleeding.

Joint hypermobility. Tendon and muscle rupture can occur. Other manifestations that may be found in the Vascular Type include: acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; arteriovenousfistula (an opening between an artery and vein), carotid-cavernousfistula; pneumothorax (collapse of a lung) /pneumohemothorax (collapse of a lung with a collection of air or gas and blood); gingivalrecession and complications during and after surgery (i.e. wound dehiscence).

The Vascular Type of EDS is caused by structural defects in the proa1(III) chain of collagen type III encodes by COL3A1. This type of EDS is inherited in an autosomal dominant manner. A skin biopsy can diagnose this type of EDS.

from: http://www.med.nyu.edu/content?ChunkIID=128098

Donna Williams
http://www.donnawilliams.net