Re: To Jill or anyone else Urgent info needed!!!

February 22, 2004

Hi this is Helen C from Adelaide,South Oz. I have asked this before but have

had hardly any response. Would you please let me know where I can get info

on gynae problems in EDS especially what a specialist needs to know. Also it

seems all my insides are stretch and abnormal or out of shape.

Jill, would it be possible to do a survey on this?

I have bowed vocal cords, been told I have a large tongue!! lax oesophageal

sphincter, large mouth diverticula, large stomach, had uterus and urethra

prolapses, rectocele. Anyone else?? I have type III EDS. There is nothing

mentioned in any info I have found about EDS except that only men have bladder

problems Ha Ha lol!!!!

At the moment I am having problems with 1) my bladder - stress incontinence,

frequency and urgency. Also I am sure I have 2) a large rectocele protruding

out of ??, and 3)a anal rectocele, 4) my bladder is partially prolapsed. It

took me ages to find a good gynae only to be told that she didn't feel she

could deal with me. I found another and I am measuring my urine output for 4

days

and then going to be catheterised to find out about the pressure in the

bladder and if I have a " busy bladder " I go there next week and I hope he will

check out all the other problems but who knows.

What I REALLY NEED IS INFORMATION THAT I CAN GIVE THE GYNAE ON EDS IN REGARDS

TO THESE PROBLEMS AND POTENTIAL PROBLEMS DOING REPAIRS. So please can anyone

help me? As I have said before there are NO DOCTORS HERE IN ADELAIDE WHO

WILL EVEN LOOK INTO EDS AT ALL. It is sooooo frustrating. Even the pain clinic

told me, " We find people like you with rare conditions know more than us and

can find out more than us!!!!

I spoke to a genetic counsellor the other day and told her how much pain I

was in especially my back and she said, " Don't worry you get better as you get

older because you seize up!!!!!! I am not getting better I am deteriorating at

a fast rate of knots. I was speechless. I rang her because I am going to

start a support group and hopefully have EDS become known!!!! I had better stop

there as I am getting riled up. Sorry. PLEASE REPLY SOON.

Gentle Hugs,

Helen C

South Oz

February 22, 2004

From: pandhcmovingon@...

I spoke to a genetic counsellor the other day and told her how much pain I was

in especially my back and she said, " Don't worry you get better as you get older

because you seize up!!!!!!

~

Good morning HelenC,

My heart goes out to you. You definitely have things going on that obviously

need to be addressed. It didn't help when the genetic doctor told you that you'd

get stiffer as you got older. --now that's a laugh.

I'm 53+ and have loosened up considerably in some joints since I stopped having

my periods 3+ years ago. --among some of the things I *now* have: a prolapsed

uterus, that continues to worsen. At times the uterus puts pressure on the

urinary area where it flows out of the body, making it difficult to begin to

" go " at times. But when I wait a tad too long, it's difficult to control it

until I get to the bathroom.

Another problem are my finger joints with increased laxity-necessitating even

more ring splints and /or added side support, and a knee that will need a

TKR-both knees are now more lax in these few years than they've been since the

surgeries.

I could go on and on with the list of increased loosening. I'm not the only one

who has experienced this when aging.

I'll check my files and try to locate some articles on gyne problems and EDS.

Not sure I have any, but I'll look.

Thanks for reposting. Seems I missed it first time around.

Please take care, and know I care.

Gentle hugs~

CindyH

Wisc.

February 22, 2004

Hi Helen,

I was sure that I had some info on this somewhere

on my HD, but wow how many articles I have...

Took a bit of searching, but finally I found what

I was looking for. That is the first article I

have pasted below. Below that one is one other

article and some article references. I hope this

helps you!

Aase Marit

Article from EDNF website (old website)

Ehlers-Danlos National Foundation

Obstetric and Gynecologic Dysfunction in the

Ehlers-Danlos syndrome

Yoram Sorokin, M.D.

Mark P. , M.D

Rogowski

A. , M.D.

Mark L , M.D.

From the Section of Antenatal Fetal Diagnosis and

Therapy, Departments of Obstetrics and

Gynecology, and the Section of Molecular Biology,

Wayne State University/Hutzel Hospital, Detroit,

Michigan, and the Ehlers-Danlos National

Foundation, Southgate, Michigan.

This article is reprinted with the permissionof the

Journal of Reproductive Medicine; Volume 39,

Number 4, April 1994: pages281 - 284

Women members of the newly formed Ehlers-Danlos

National Foundation (EDNF) were surveyed with a

very detailed questionnaire with 50 questions

concerning family history and inheritance, past

medical history, and obstetric and gynecologic

problems, They entailed the largest extant

database on Ehlers-Danlos syndrome (EDS)

patients. The mean age of the 68 women who

responded to the survey was 42 years, most had

EDS types I, III, IV and unknown. Forty-three

women had 138 pregnancies, 13 women never

married, The stillbirth rate was 3.15% (3/95);

the preterm delivery rate was 23.1% (22/95); and

the spontaneous abortion rate was 28.9% (40/138).

There was a cesarean delivery rate of 8.4% with

14.7% having perinatal bleeding problems. One

woman (EDS type IV) had congestive heart failure.

Common gynecologic problems were recurrent

anovulation (41.3%), recurrent vaginal infections

(53%), abnormal cytologic smears (19%); and

sexual dysfunction (61%), irregular menses (28%),

endometriosis (15.8%); vaginal dryness (25%); and

a need for hysterectomy (19.1%)- In this largest

series of pregnancies with EDS, we found

relatively high rates of abortion, preterm

delivery, pregnancy-related bleeding and

stillbirth. Women with EDS also seem to have high

frequency of anovulation, vaginal infections,

abnormal cytologic smears and dyspareunia.

INTRODUCTION

The Ehlers-Danlos syndrome (EDS) is a

heterogeneous collection of at least 10

connective tissue disorders causing abnormal

production or secretion of collagens (Table I).

Early reports on EDS emphasized joint laxity and

skin hyperextensibility in the disorders. The

classification of EDS is based on phenotype

manifestations, specific biochemical

abnormalities and mode of inheritance. The main

clinical features are fragility of the skin and

of the dermal blood vessels, characteristic

" papyraceous " scars, hyperextensible and

transparent skin, and hypermobile joints. Most

reports in the obstetric and gynecologic

literature have been anecdotal and were published

before the various types of Ehlers-Danlos

syndrome were recognized. There are several case

reports that emphasize type IV EDS as distinct in

carrying a high risk of major complications and

maternal death due to ruptured blood vessels. The

maternal mortality rate in type IV EDS has been

estimated to be 25%.

It has been suggested for many years that during

pregnancy, women with EDS are at increased risk

of vascular complications, including varicose

veins, aneurysm of blood vessels, cerebrovascular

accidents, increased bruising, antepartum and

postpartum hemorrhage, separation of the

symphysia pubis, hematoma formation, increasing

joint laxity, premature rupture of the membranes

and prematurity. In nonpregnant women,

menometrorrhagia, recurrent pelvic floor

relaxation and uterine prolapse have been

reported. However, because of the low incidence

and multiple types of EDS, there are no recent

large series from which one can draw any

conclusions regarding obstetric and gynecologic

symptoms, signs, morbidity or mortality.

Recently, the Ehlers-Danlos National Foundation

(EDNF) brought together enough patients with EDS

to ask some meaningful questions. Below we report

on any obstetrics and gynecologic aspects and

complications in the largest extant group of

women with EDS.

MATERIALS AND METHODS

A detailed questionnaire was mailed to women

members of the EDNF. Fifty questions inquired

about family history and inheritance, past

medical and surgical problems and complications,

obstetric and gynecologic history and issues of

sexuality. Sixty-eight questionnaires that were

completed and returned formed that database from

which this report was generated. There were

several cases in which no specific EDS type had

been clinically assigned to the patient, and they

are referred to below as " unknown " .

RESULTS

The women surveyed had a mean age of 42 years. Of

the 68 women, at least 30 had some relatives

affected by EDS. The diagnosis was made

clinically in two-thirds of the women. Very few

women used alcohol (2 women, more than six drinks

per week) or drugs; only 6 women smoked +\- O.5

packs per day. Eleven women were unemployed, and

30 had a professional career. Of the 68 surveyed,

42 had had 138 pregnancies (3.2 per woman).

Thirteen women (19%) were never married.

The outcomes of pregnancies by EDS type are

displayed in Table II. The incidence of bleeding

problems during pregnancy was 14.7%; there were

40 miscarriages (29%), 3 stillbirths (3.15%) and

13 pregnancies with an antepartu m and/or

intrapartum hemorrhage. There was one pregnancy

with heart failure (EDS type IV), I with hip

pains, I with preeclampsia and I with separation

of the symphysis. Difficult or prolonged Iabor

was reported for 5 (5.2%) pregnancies and

precipitous labor for 2. Forceps delivery, breech

delivery and retained placenta occurred in I

pregnancy each. The preterm delivery rate was

23.l% (22/95), and there were 15 (15.7%) small

for gestational age infants, The cesarean

delivery rate was 8.4%.

Recurrent anovulation, frequent and recurrent

vaginal infections, abnormal cytologic smear and

sexual dysfunction due to dyspareunia were

relatively common, with incidences of 41.3%, 53%,

19% and 61% respectively (Table III). Gynecologic

problems included irregular menses (16/57), with

most women having periods every 15-40 days.

Menorrhagia (longer than seven days) was found in

eight (13.7%) women. Pubarche and thelarche were

in the normal range. Endometriosis was common

(10/63, 15.8%), with seven women having severe

cases; however, in five women, the diagnosis was

made on the basis of the history and physical

examination alone. Five of 10 women with

endometriosis had EDS type IV. Hysterectomy was

the most common gynecologic operation. Three

women had a uterine prolapse, and two had

cystocele and rectocele repair. Most of the women

used contraceptives and had sexual activity with

one male partner, however, many expressed having

unsatisfactory sexual activity (15/58, 25.8%),

dyspareunia (I2/58, 20.7%), sexual dysfunction

(7/59, 11.8%), postcoital bleeding (5/59, 8.5%)

and vaginal dryness (15/60, 25%).

DISCUSSION

EDS is a heterogeneous collection of connective

tissue disorders. The incidence of complications

varies with the different types. The precise

underlying biochemical nature of the

complications in several EDS types is known.

However, in most clinical complications, the

precise mechanisms are still a matter of

speculation. In this series we attempted to look

at several clinical obstetric and gynecologic

symptoms, signs and complications in a large

group of women with EDS.

This was the first attempt to create an EDS

obstetric and gynecologic database, The need for

such a database was obvious at the first meeting

of the EDNF. This type of database has the

limitation of selection bias and dependence on

retrospective patient reporting.

In this series, we found suggested associations

between miscarriages, antepartum hemorrhages,

stillbirth and EDS. Previous series had similar

findings as well as increased frequencies of

backache, varicose veins and straie gravidarum,

In 1966, Barabas reported on 39 pregnancies with

14 premature deliveries (defined as < 5.5 lb.),

of which 13 started with premature rupture of the

membranes. All the deliveries occurred between 32

and 35 weeks of pregnancy. The other reports were

published earlier, had smaller numbers, did not

contain information on EDS typing or defined

prematurity as a neonatal weight < 2.5 kg.

Beighton reported a 350%, (9/32) premature

delivery rate in EDS type I (gravis). In the

present series, we found a high preterm delivery

rate, 23.1% (22/95); however, most women having

preterm deliveries did not have premature rupture

of the membranes. When the 95 deliveries are

classified according to EDS type, there are still

too few pregnancies in each type for meaningful

conclusions.

Lethal complications of EDS (especially EDS type

IV) have been reported extensively. The present

series was biased toward women with survival and

very low rate of serious complications

(dissecting aneurysms, arterial rupture, vascular

complications). We did not find high rates of

postpartum hemorrhages or surgical interventions,

as found in some earlier series. None of the

patients in the present series had serious

bleeding problems during pregnancy.

The literature on gynecologic problems in women

with EDS is much scantier than that on obstetrics

problems. Most of the clinical gynecologic

problems could be easily explained by the skin

and supportive tissue fragility in women with

EDS. In our series very few women had surgery for

symptoms of pelvic relaxation; however, recurrent

vaginal infections, sexual dysfunction, vaginal

dryness and dyspareunia were very common

complaints. A more extensive gynecologic and

urogynecologic evaluation in women with EDS is

planned.

Obstetricians and gynecologists should be aware

of the clinical symptoms and signs that reveal

the possible presence of EDS and should

understand that today many of the disorders can

be confirmed by biochemical examination.

Diagnosis should entail the patients' obstetric

and gynecologic risks as well as the risk of

transmitting the disease to their children.

Editor's Note: References available upon request.

Publications

PREGNANCY & CHILDBIRTH IN EHLERS-DANLOS SYNDROME:

Author:- Dodo Merrild MD.

This 32 page, A5 booklet will be of immense value for medical and

caring professionals as well as people with EDS. The main chapter

headings are:- Introduction; Human aspects of Pregnancy in EDS;

Medical aspects of Pregnancy in EDS; Physiological and

Pathophysiological changes in Pregnancy; Delivery in EDS; Post

Partum Period; The Foetus and Newborn Child; and Conclusion.Table of

'The Ehlers-Danlos Syndrome' and mode of Inheritance.

Available from Ehlers-Danlos Support Group, UK. Price £1:50 STERLING

ONLY. For Overseas - Please add £0:50 (Total amount £2:00 ) for

postage.

OR

Any Bookshop Order:- ISBN 0 9525986 0 4

[image]

EHLERS-DANLOS SYNDROME AND THE URINARY TRACT

By Cuckow FRCS

Registrar in Paediatric Surgery and Urology.

St 's University Hospital, Leeds.

Ehlers (1901) and Danlos (1970) first described a clinical syndrome

that was characterised by lax skin and hypermobile joints. Since

then, with the identification and study of thousands of cases, many

other manifestations of the syndrome have become known. The

Ehlers-Danlos Syndrome (EDS) is now recognised as an abnormality of

collagen structure and synthesis with varying inheritance that

produces a whole variety of symptoms and signs. There are at least

ten distinct subtypes but, because many cases are asymptomatic and

remain undiagnosed, the true incidence is unknown. It probably

represents the commonest inheritable disorder of connective tissue.

Connective tissue, as its name implies, has a vital function in

binding the tissues of the body together and maintaining their

integrity. Collagen fibres in particular form a meshwork throughout

tissue, imparting strength and rigidity to it. The deficiencies in

connective tissue and collagen fibres associated with EDS are

therefore manifested by uncharacteristic weakness and elasticity of

body tissues. This is most obviously demonstrated by the laxity and

fragility of the skin and stretch ability of tendons allowing the

characteristic joint mobility. In the skeletal system joints may

dislocate easily and deformities of the hips, spine and chest may

occur, whilst stretching of the abdominal wall leads to hernia

formation. Any hollow tube or organ whose walls are subjected to

intermittent or constant rises in internal pressure may be affected.

Varicose veins may form in the legs due to stretching of their

weakend walls and large arteries may dilate due to the high pressure

blood within them, forming aneurysms or the same reason. Similarly,

although much more rarely seen, the gut wall can stretch and cause

either a generalised dilatation or focal outpouchings, called

diverticula. These can give rise to problems by interfering with the

absorption of nutrients or by rupturing and causing peritonitis.

Ehlers-Danlos Syndrome rarely causes complications in the urinary

tract and these tend to appear as case reports in medical journals.

Four cases with multiple cysts in the kidneys are reported, although

these may in fact have been separately inherited lesions and

unrelated to the patients EDS. Dilatation of the ureters that drain

the kidneys into the bladder has also been seen but the commonest

problem is an outpouching of the bladder wall or bladder

diverticulum.

The first case of bladder diverticulum was reported in 1942 and

since then there have been at least 24 others in the journals. All

have been male with an age range of between 18 months and 49 years,

with 80% presenting with symptoms before their sixteenth birthday.

Presentation is variable and urinary tract infection, dysuria (pain

on passing urine), haematuria (blood in the urine), lower abdominal

swelling, bladder stones and bladder rupture have been reported.

There may of course be many more patients with EDS whose diverticula

never cause symptoms and go undetected. Bladder diverticula have

been seen in several of the different subtypes (l, ll, lll, lV, Vl,

lX). Their association with a variant of EDS linked to the X

chromosome is now becoming increasingly recognised after finding

them in 5 male members of the same family and 5 out of 7 cases of

EDS type lX.

The pressure inside the bladder remains low while it is filling but

rises significantly when urine is passed (voiding). It is probable

that this rise in pressure stretches the bladder wall in susceptible

individuals and causes the diverticulum to form. One explanation for

the complete absence of diverticula in female patients is the

significantly higher voiding pressures generated by male bladders.

Obstruction of the bladder outflow causing abnormally high voiding

pressures has been suggested but in spite of carefully investigating

several patients for this, it has only been seen in one.

Although the diverticulum may rarely enlarge sufficiently to cause

an obvious swelling in the lower abdomen, the main cause of symptoms

is due to retention of urine in the diverticulum and an inability of

the bladder to empty completely on voiding. Thus the bladder

contents are never completely flushed out, which may allow bacteria

to gain a foothold and infection to develop.

As well as causing symptoms of general malaise and a raised

temperature, infection and inflammation in the bladder and bladder

outflow (urethra) can cause lower abdominal pain and a nasty burning

pain on voiding (dysuria). Bladder irritation leads to a need to

void more frequently (frequency) and the bladder lining can bleed

(haematuria), which may be severe due to the increased bleeding

tendency in EDS. Accumulation of debris in the bladder may also lead

to the formation of bladder stones which promote infection and

inflammation. Pain in the back and a high temperature suggest kidney

involvement with the infection and patients with this complication

may become quite ill.

The management priorities in patients with the above symptoms are to

initially eradicate infection with antibiotics (which may need to be

given intravenously in a severe case), then investigate them to look

for the underlying cause and finally to plan definitive treatment.

An ultrasound scan is normally the first line investigation. It

enables good visualisation of both the bladder and the kidneys and

certainly any diverticula and bladder stones should be spotted by an

experienced operator. A plain X-ray of the area can be used to

demonstrate stones. Various other X-rays are then available if

further information or clearer visualisation is required.

Fifteen of the cases of diverticulum reported in the journals were

treated by surgical excision of the diverticulum. These were found

to have a characteristic appearance when studied under the

microscope. Unfortunately of the 15 patients at least 10 developed

recurrent diverticula after surgery and adequate follow up

information is lacking in the remainder. As well as giving these

poor results, surgery itself may be complicated by delicate friable

tissues, per-and post-operative bleeding and poor wound healing. It

should therefore be reserved for severe or symptomatic cases or for

those patients in whom the kidneys are also involved and their

function is threatened. Less invasive surgery may be required to

remove bladder stones but in the majority of patients infection can

be controlled by administering regular low dose antibiotics

(prophylactic antibiotics). In some patients asymptomatic bladder

diverticula are discovered incidentally during investigation of

another problem. In this situation it is debatabl whether any

treatment at all is required.

As the urinary tract complications of EDS are comparatively rare, it

is important to emphasise in this discussion that EDS patients are

no less susceptible to commoner urinary tract diseases than the rest

of the population. Thus urinary tract infection and high fever in a

child may be due to another underlying problem, dysuria in a young

female to simple cystitis, difficulty passing urine in an older man

due to an enlarged prostate and haematuria in older people of both

sexes may herald bladder cancer. All of these problems require

careful investigation and treatment and are familiar to most

doctors. Nonetheless, the possibility of an underlying diverticulum

in symptomatic males with EDS warrants at least an ultrasound scan

to exclude it. It is of course very important for doctors to be

aware of EDS in patients they are treating, particularly if surgery

is to be required.

In conclusion, Ehlers-Danlos Syndrome rarely causes problems in the

urinary tract, although hidden abnormalities my be present in many

more patients than present with symptoms. The commonest of these is

a bladder diverticulum, and this should always be suspected as a

cause of haematuria or urinary infection in young males. Surgery to

remove the diverticulum should be reserved for those cases in which

symptoms are severe and poorly controlled with medication or in whom

kidney function is threatened. The presence of EDS in patients being

treated for common urinary tract problems will impact on their

treatment, particularly if surgery is involved.

MEDICAL ADVISORY PANEL

Prof. P. Beighton, MD. PHD. FRCP. DCH. Prof. H. A. Bird, MD.

FRCP.

Mr. J. C. Angel, FRCS. Prof. R. Grahame, MD. FRCP. FACP.

Dr. F. M. Pope, MD. FRCP. Mr. A. P. Barabas, MD. FRCS. D. Merrild.

MD

Registered Charity Number: 1014641

The views expressed are those of the author/s & should not be

construed to represent

the opinions or policy of the Ehlers-Danlos Support Group or

Trustees

ARTICLE

Adv Exp Med Biol 1999;462:201-14; discussion 225-33

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