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?

  1. 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.
  2. 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

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