TELANGIECTASIA
Prepared and written by Dr. Mary Porteous on behalf of
the TELANGIECTASIA SELF HELP GROUP
Hereditary haemorrhagic Telangiectasia (HHT) also known
as Osler-Weber-Rendu disease, was first described over 100
years ago. It is due to a faulty gene and is very variable
causing some people considerable distress while others escape
with much less severe problems. For the majority of patients,
nosebleeds are the main problem although bleeding from the
lining of the stomach and intestines occurs in about 20%
of cases.
How do I know if I have HHT?
HHT does not usually cause any problems in early life. The
first sign that a child has HHT is usually nosebleeds that
are heavier and more frequent than those of other children.
Over half of all patients with HHT have frequent nosebleeds
by the age of 16 and over 90% by the age of 30 years. The
other feature of HHT is the red spot or telangiectasia.
These spots which are actually tiny malformed blood vessels
are found particularly on the lips, tongue and fingertips.
If you are over 30 and do not have nosebleeds or any little
red spots (Telangiectases) on your hands or lips then it
is unlikely that you have HHT.
Very occasionally the faulty gene may be inherited and
that person not show any signs of HHT. Usually however,
if you do not have any signs of HHT by age 30, it means
you have inherited the good copy of the gene and so do not
have a faulty copy to pass on to your children.
What is the risk of me passing HHT on to my children?
In order to answer this question we have to go through some
basic genetic facts. Everything about us from eye colour
to blood groups is coded for by units of inheritance or
GENES. We each have over 50,000 pairs of genes, one of each
pair from our mother and one from our father. Each time
we make an egg or sperm, we put one member of the pair in.
The process is random, like tossing a coin.
50% of the time, the affected parent passes on the faulty
copy of the gene. If this happens then the child will develop
HHT. Each child of a person with HHT has a 50% risk of developing
HHT. It does not depend on the sex of the child or on whether
or not previous children are affected. If you have 4 children
in a row that develop HHT then the risk to the 5th child
is still 50%.
I have been diagnosed as suffering from HHT. What tests
should I have?
If you have regular heavy bleeds from your nose or stomach
and intestines, your doctor will monitor your blood to see
if you become anaemic. This enables prompt treatment with
iron tablets or a blood transfusion where necessary.
About 20% of patients with HHT have a problem with blood
vessels in the lungs. This is called Pulmonary arterio-venous
malformation (PAVM) and can cause problems if it is not
treated. We recommend that anyone with HHT is checked out
for this problem. PAVMs can be detected on X-ray and by
measurement of oxygen levels in the blood using an oximeter.
It is particularly important to be screened if you have
a relative with a PAVM.
OTHER RARE COMPLICATIONS OF HHT MAY NEED SPECIFIC INVESTIGATIONS.
YOUR DOCTOR WILL ADVISE YOU IF THEY ARE NECESSARY IN YOUR
CASE.
Anaemia
Any patient that has regular episodes of bleeding is at
risk of becoming anaemic. Anaemia is a medical term used
when there is insufficient iron in the blood. Iron can be
replaced in 2 ways; either by taking iron tablets or by
blood transfusion. Where possible your doctor will attempt
to keep your blood iron levels up with iron tablets. Occasionally,
if you have a very severe bleed then you may need a blood
transfusion.
Nosebleeds
Various treatments have had some success in some patients
but as yet there is no “magic cure”.
Cautery of troublesome vessels can produce temporary relief
but long term results are not so good. Most ENT surgeons
tend to use cautery very sparingly as repeated cauterisations
may lead to damage of the surrounding nasal lining.
Oestrogens (hormone treatment) can be effective, particularly
in women but may lead to troublesome side effects in male
patients which limit usefulness.
Laser treatment. Like cautery this treatment is aimed at
a specific bleeding site. If you have several telangiectases
in the nose or intestines then laser treatment is less effective
but the results of treatment in patients with small numbers
of spots are quite encouraging. However the equipment involved
is very expensive and treatment is only available at specialist
centres.
Skin Grafts. Nasal skin grafts are a “last resort”
treatment when there is uncontrollable severe bleeding.
The results are very variable.
PAVM
The majority of PAVMs can now be treated radiologically.
A fine tube is passed through a vessel in the top of the
arm or leg and small Tefton coated balloons or steel coils
are introduced through it to block off the abnormal vessels.
Blocking off these vessels should reduce the risk of complications
from PAVMs. Again treatment is available only at a few specialist
centres.
Bleeding into the stomach and intestines
If you have problems with bleeding into the stomach and
intestines, your doctor is likely to refer you to a gastroenterologist
for an endoscopy. This test involves looking at the upper
portion of the gastrointestinal tract with a fibre-optic
tube (endoscope) the end of which is swallowed. If there
are one or two particular bleeding sites these can be treated
by laser, frequently to good effect However there are often
several sites of bleeding and ,in this case your doctor
may elect to try some form of hormone treatment or to treat
you “symptomatically”, that is with iron and
blood transfusions.
Information Courtesy of:
TELANGIECTASIA Self Help Group
39 Sunny Croft
Downley
High Wycombe
Buckinghamshire
HP135UQ
Tel: 01484 528047
Email: info@telangiectasia.co.uk
For Further information visit the website
www.telangiectasia.cwc.net
THE LUNGS IN HEREDITARY HAEMORRHAGIC TELANGIECTASIA
Prepared by Dr. Claire Shovlin for TELANGIECTASIA
SELF HELP GROUP
About one in four individuals with HHT develops abnormal
vessels in the lungs. These are called pulmonary arteriovenous
malformations (or PAVMs for short). They let blood bypass
or “shunt” past the lung airsacs. As this blood
does not receive oxygen, your oxygen levels drop which can
make your lips appear blue, and as blood passing through
PAVMs is not properly filtered, mini-strokes can result.
Occasionally, the fragile vessels may bleed and make you
cough up blood.
Because of these risks, which are present even if you feel
well, it is important to check whether or not you have PAVMs.
If they are present, we arrange for you to have a relatively
simple treatment to close them off.
What Should I Do?
If you have or think you have HHT, the best plan is to discuss
the matter with your GP. You need to be told the implications
for you and your family, and your GP may refer you to hospital
for a check-up. As HHT is a rare disorder and generally
not well-covered in medical schools, it is possible that
your GP or hospital doctor will need further information
which we would be happy to provide. It is usually best if
they write directly to us for information.
To screen you for PAVMs, your doctor(s) will ask some simple
questions about whether you are unduly short of breath,
tired, or cough up blood. They may look at your lips and
hands, as some PAVM patients have a blue tinge to their
lips or a drumstick appearance of the finger tips. Additional
tests would be carried out at your local hospital. These
would include a chest Xray, and a measurement of the oxygen
level in your blood particularly after standing for 10 minutes.
Further tests will be undertaken if any of these investigations
give cause for concern.
Who should be screened and when?
PAVM screening is most important for anyone with HHT, but
all family members should be assessed. We recommend screening
in adults, to be repeated after five years. We also screen
children but this needs to be repeated after puberty.
Pregnancy: Most women with HI-IT with or without PAVMs
have successful and uncomplicated pregnancies. However,
a few women with PAVMs have complications during pregnancy.
We therefore recommend that you consult a specialist so
you can be assessed, and if necessary treated, before becoming
pregnant.
What will happen if PAVMs are suspected?
- If we suspect that PAVMs are present, you will be advised
to take antibiotics before any dental treatments or surgery
- your GP will need to treat you like a patient with abnormal
heart valves.
- The Hammersmith has special expertise in treating PAVMs-
if you screen positive, your doctor may contact us at
this stage for further tests.
Hammersmith Hospital, Du Cane Road, London W12 ONN
Tel: 0208 383 3269
Fax: 0208 743 9733
THE NOSE IN HEREDITARY HAEMORRHAGIC TELANGIECTASIA
Prepared on behalf of the TELANGIECTASIA SELF HELP
GROUP
One of the most serious and socially debilitating problems
for HHT sufferers are the frequent and often severe nose
bleeds which they experience. These can occur at any time
with the slightest provocation making the simplest excursion
outside the home fraught with difficulty, there are many
treatments both medical and surgical available for the nose
bleeds and the choice will depend upon the severity of the
problem and factors relating to the patient and ENT surgeon
involved.
First Aid Measures
The nose has an excellent blood supply and nose
bleeds are common in the general population. Normally when
blood vessels are damaged they are able to contract and
this combined with pressure will usually stop the bleeding.
In HHT the telangiectasia are easily traumatized and are
not able to constrict in the usual way. Exerting pressure
by pinching the front of the nose between the thumb and
forefinger for approximately 10 minutes may help but some
patients find it easier simply to wait until the bleeding
stops. Under either circumstance it is better to bend the
head forwards so that any blood coming into the mouth can
be spat out and not run down into the stomach or airway
where it will cause irritation. As the vessels bleed readily
with trauma, any form of packing in the nose can potentially
make the situation worse. Consequently, pushing bits of
cotton wool or tissue paper in the nose may not help the
situation and bits may get left behind to form a focus of
infection later on.
Laser treatment and Cautery
A number of methods are available to try and seal the telangiectasia
within the nose. Hot wires and freezing have been used but
most recently laser cautery has become available in some
centres. The laser energy is absorbed by the blood vessel
which effectively spot-welds the area and this can be done
very accurately when combined with a fibre-optic illumination
system. A variety of lasers are available of which the Argon
and Neodinium Yag lasers are probably most effective. However,
the laser treatment is not successful in all patients, being
most useful in those with mild to moderate disease. The
treatment may be required every few months and this simple
procedure can be done under local or general anaesthetic.
Drug Treatments
If the female hormone, oestrogen is taken by mouth it will
often reduce the frequency and severity of nose bleeds.
The way in which it does this is not certain but it may
be due to a change in the lining of the nose which becomes
more protective to the telangiectasia. Female hormones,
however, do have side effects. In women who have not had
a hysterectomy oestrogens may cause some changes to menstruation
or restart periods in women who have already undergone the
menopause. In men there may be feminizing effects such as
enlargement of breast tissue. As an alternative, another
hormone, progesterone has been used particularly in men
as this has less of these feminizing effects.
Septodermoplasty
The telangiectasia are most frequent at the front of the
nose, particularly on the nasal septum which divides the
nasal cavities in two. It is possible to remove a portion
of the lining membrane of the nose and to replace this with
a skin graft or lining from the mouth. Although both sides
of the nose can receive a graft it is usual not to do both
sides at the same time but to do the worse side first and
reassess the situation after some months. The length of
benefit again varies from patient to patient and over a
period of time the bleeding may return as the graft shrinks
and the telangiectasia recur.
Closure of the nostril
This has proved the most effective treatment in controlling
nose bleeds. The very act of breathing through the nose
can cause damage to the lining in patients with HHT due
largely to the drying effect of the air. If air no longer
enters the nose the bleeding will stop. This can be achieved
by closing the inside of the nose with little skin flaps
which are not visible from the outside. Patients are worried
about the consequences of no longer breathing through the
nose but they can be reassured that no harm can come to
them if they breathe through the mouth either during the
day or night. If a nose bleed did occur under these circumstances
blood would simply run into the mouth but in all patients
in whom the nose has been closed off, nose bleeds have stopped
completely. This operation is quite a small procedure, though
it is usually done under a short general anaesthetic.
Valerie J Lund
Consultant ENT Surgeon The Royal National Throat, Nose and
Ear Hospital 330 Gray’s Inn Road London
WC1X8EE tel: 0171-915-1487 fax: 0171-833-9480
Information Courtesy of:
TELANGIECTASIA Self Help Group
39 Sunny Croft
Downley
High Wycombe
Buckinghamshire
HP135UQ
Tel: 01484 528047
Email: info@telangiectasia.co.uk
For Further information visit the website
www.telangiectasia.cwc.net
