Philbarto asked that I post these, so here they are:
NOTES FROM THE FIRST UK HHT PATIENTS MEETING
9 FEBRUARY 2002
This is a collection of notes from a variety of presentations, speeches and discussion groups from a one day conference, organised by the UK Telangiectasia Self Help Group (
http://www.telangiectasia.cwc.net).
Clearly, nearly 100% of the research into and understanding of HHT has occurred during the past 20 years. Until the creation of the UK Telangiectasia Self Help Group web site a few years ago, most UK patients’ knowledge of the condition was very much as Dr Claire Shovlin described at the start of the conference: “the 19th century view of HHT” that persisted until the 1980s: a lot of nosebleeds (epistaxis) and, with age, an increasing number of telangiectasia (enlarged, fragile blood vessels that show as purple spots) on the face, lips, fingertips and gums. There’s evidently a bit more to learn than that.
It’s not all bad news: There seems to be growing evidence that HHT confers one significant health advantage.
• The research is still being done, but preliminary indications are that 30% to 50% as many people with HHT develop degenerative heart disease as one would normally expect. Obviously, the researchers are keen to find out why this is so, as well as how much so.
• This phenomenon seems to have been lurking in the anecdotal evidence for some time: Dr Shovlin described a 76 year old woman with HHT requesting a surgical procedure to tame her nosebleeds temporarily; when her advanced age was tactfully pointed out to her, she immediately retorted: “oh, never mind about that, all of the people in my family with nosebleeds live much longer than the others”. And so it proved.
PAVMs: The major health risk of HHT is not the nosebleed. It is the Pulmonary Arterio-Venous Malformation. This is basically a direct link between an artery and a vein inside the lung, without the usual filter of capillaries. Colloquially known as “shunts”, these can proliferate in considerable numbers in the lungs.
• About 25% - 30% of people with HHT get PAVMs; they usually appear after puberty.
• If they are left untreated, there is a risk that a blood clot could shoot through the shunt because of the lack of capillaries; if the clot reaches the brain, a stroke could occur.
• PAVMs are easily and permanently treatable, but as they are often asymptomatic, there is now a screening programme. The screening involves lung oxygen saturation tests and, in some cases a CT scan.
• The treatment of choice is “embolisation”, an elaborate technique of blocking the shunts with tiny steel coils introduced via a catheter. Dr James Jackson, who developed the most advanced embolisation technique, gave a lecture in considerable detail.
• The major message here is: every adult who is at risk of having HHT should be tested for PAVMs at least once, regardless of whether they have any other symptoms of HHT.
CAVMs: This is potentially more serious, as it is more difficult to treat: these are Cerebral Arterio-Venous Malformations. They occur in 10% - 15% of people with HHT. The risk of cerebral haemorrhage is 10 times greater for people with HHT than for the average person.
• There is some debate over when and whether they should be treated. In America, treatment is widely prescribed – embolisation again, but this time usually using glue instead of coils. However, the British medical profession is sceptical about this – apparently the treatment has a 2% risk of causing a stroke and there is some evidence that many CAVMs will be fine if they are simply left alone.
• The messages here were: (1) if you have HHT, avoid activities that will greatly increase the blood pressure in your brain, e.g., bungee-jumping, riding roller-coasters, deep sea diving & boxing; (2) get checked for CAVMs if you want to, but bear in mind that all this may accomplish is to increase your level of worry without actually achieving anything practical to improve your health.
Nosebleeds: Unsurprisingly, the main session and the discussion group on epistaxis were particularly well attended. They were presented by a nose-specialist ENT surgeon with expensive experience of HHT, Mr William Grant from Charing Cross and Chelsea & Westminster Hospitals. People’s problems with nosebleeds ranged from a minor irritation and nuisance every few days to people who were dependent on frequent blood transfusions, or lost more than an hour a day waiting for their nose to stop streaming with blood.
• Here’s some interesting but relatively useless information: the average HHT nosebleed lasts 7.5 minutes; the average person with HHT gets 18 nosebleeds per month; 55% of people with HHT find that their nosebleeds get worse with age; 5% of people with HHT find that their nosebleeds get better with age.
• Cautery is now thought to be worse than useless for HHT nosebleeds. It doesn’t work except in the short term and it weakens the surrounding skin in the long term. No matter how many times the telangiectasia are cauterised, they inevitably grow back.
• Packing the nose is useful for severe nosebleeds, but removing the packing traumatises the lining of the nose and can restart the bleeding. A product called “Merocel” causes this problem much less and is now more often being used, sometime after being treated with a vasoconstrictor drug to shrink the blood vessels.
• Embolisation of the small arteries in the face to reduce the blood pressure in the nose can work, but is a relatively major procedure. In many cases, new blood vessels eventually grow to reinstate the blood supply to its original level.
• Lasers can be moderately effective for up to 75% of people with HHT nosebleeds, as long as they are the less powerful types that coagulate tissue instead of vaporising it: the Argon laser and the KTP laser are the recommended ones. However, lasers used in the nose are yet another temporary solution: the telangiectasia eventually grow back.
• An alarming procedure called septodermoplasty can be used for severe sufferers. It involves placing a skin graft from (say) the leg inside the nose and often works for quite some time, but has unpleasant side effects (bits of your leg don’t like living in your nose and start to get smelly & crusty) and – again – the telangiectasia can eventually re-grow.
• “Young’s operation” is simple and drastic. They sew your nostrils shut inside. Permanently. Amazingly, this works, fast and apparently for the long term. Nearly all of the people who have had this operation have no more nosebleeds at all. The theory is that the air, dust, bacteria, etc., that rush past the lining of the nose traumatise the delicate telangiectasia and make them susceptible to bleeding. No air stream, no bleeding. Obviously, this is for people with a severe problem, who would rather have no nosebleeds at the expense of the use of their nose.
• A new device is a nasal prosthesis. Instead of sewing the nostrils shut, they fit a custom-cast plastic or resin plug in the end of your nose. It seems to work as well as Young’s operation. Quite why no one has thought of this before is a bit curious – perhaps they were all surgeons by trade. And here’s another curious thing: they are promoting the prosthesis as something to try temporarily, to see if you want to have Young’s operation. It could be that the prosthesis might be a useful tool for people with HHT to use for a few weeks at a time, when they were having a bad attack of nosebleeds. This has yet to be tried – perhaps it should be.
• A regimen of three antibiotic moisturising creams, used in a weekly rotation to prevent antibiotic resistance developing, seems to have a beneficial effect. At Hammersmith, they are trying to research this at the moment, to figure out whether it is the antibiotics or the moisturisers or both that are having the medical effect, but they have recently lost some key staff and are trying to replace them so they can complete the research. [NOTE: I've tried this since I originally wrote these notes. Over the course of a year, it had no noticeable effect.]
• Mr Grant’s summary for treatment of nosebleeds: virtually nothing works permanently; the best thing is to do as little as necessary, depending on the severity of the problem.
Gastro-intestinal bleeding: From the literature and the general conversation, it was evident that this is, for many people, the most debilitating and dangerous aspect of HHT, but the gastro-intestinal expert couldn’t attend, so the session was cancelled.
• A very high proportion of those severely affected and transfusion-dependent people who attended the conference cited severe GI bleeding as their main problem.
• Approximately 25% of people with HHT have GI problems.
• There is evidence that GI bleeding is responding well to the use of lasers inside the gut.
Liver problems: Approximately 10% of people with HHT have shunts in their livers, but a very small proportion of them cause any problems.
• Again, the doctors suggested that Americans doctors were too prone to intervene and should leave the livers alone unless they started causing problems.
• One young Scottish woman present had cirrhosis that appeared to have been caused by long term asymptomatic bleeding into her liver.
Anaemia: Anyone with HHT ought to be checked regularly for anaemia and to eat a diet rich in iron. Even if you are not aware of it, you may be bleeding internally & becoming anaemic.
The genetics of HHT: This is where the really new information is available.
• The teams at Hammersmith Hospital (Dr Shovlin et al.) and in Paris have identified two separate genes that cause HHT: one is the endoglin gene and the other is called ALK-1, each named after the proteins it codes for.
• Most people with HHT have a defective endoglin gene. A somewhat higher proportion of people with a defective endoglin gene have PAVMs & CAVMs than is so for people with defective ALK-1. They have recently found a few HHT families who evidently have a third mutation instead of endoglin or ALK-1, but they haven’t identified it precisely yet.
• The French have worked out that one out of every 10,000 French people has HHT. On that basis, there are 6,000 British people with HHT and 25,000 Americans. So far, the British teams have genetically tested over 100 families (they didn’t say how many people there are per family).
• The main use for genetic testing is thought to be clearing the 50% of people who do not inherit the gene, so they can stop worrying and start bungee-jumping.
• The Big Question they are working on at present is: why does a family of people with identical genetic defects manifest a wide range of different types and severity of symptoms? A related question is: why do people have wide fluctuations in the severity of their symptoms at different stages during their lives? Evidently, there are environmental factors at work here, but they haven’t identified them yet.
• Some families tend to have lots of lung or brain involvement, some families less so. But there are examples of families with a long history of little lung or brain trouble suddenly developing it – and vice versa.
• The endoglin protein and its close companion from ALK-1 have a role regulating the growth of the “endothelial” (blood vessel lining) cells and smooth muscle cells in the walls of blood vessels. A person who inherits one copy of an HHT gene has approximately half the endoglin production of other people and their expression of endoglin is irregular throughout their system, hence the presence of telangiectasia in some parts of the body and not in others.
• The lack of smooth muscle & elastic tissue in the walls of the blood vessels has (at least) two effects: (1) the walls of the vessel are thin and fragile and bulge out, so they cannot form proper capillaries and are prone to break and bleed; (2) affected vessels cannot, when cut or broken, go into the normal muscular spasm to restrict the blood flow and promote clotting, so the bleeding continues longer than it would otherwise do.
• The widely held assumption, based on tests of mice bred to have a condition much like HHT, is that the very rare person who inherits two copies of the defective endoglin gene does not get born.
Pregnancy: There are health issues for women with HHT who get pregnant.
• The HHT symptoms, particularly any PAVMs, tend to become significantly worse during the pregnancy and need to be watched. The symptoms generally return to “normal” after the pregnancy is over.
• Women with HHT should not have epidurals: there is a possibility that the needle might hit a telangiectasia in the spine, which could cause bleeding and damage the spinal cord.
• Generally, increasing oestrogen levels tends to improve HHT symptoms by thickening the skin, so women can benefit from HRT. They haven’t figured out exactly why pregnancy makes the symptoms worse.
Deep Vein Thrombosis: Interestingly, people with HHT have significant differences in their blood clotting than other people. There is apparently a considerably greater risk of DVT, as people with HHT tend to have blood that clots more readily. I don’t find this especially surprising and I suspect that Charles Darwin would agree: if you have a tendency to start bleeding, as well as blood that doesn’t clot very well, I would think you might stand a reduced chance of making it to breeding age. So if you want to fly long distances, keep doing those deep knee bends.
Alternative therapies:
• Someone asked about acupuncture, not because they were worried about it, but because they wanted to know whether it might be effective. The answers were “it’s not dangerous and it’s unlikely to have any benefit”.
• A patient suggested that a preparation made from bilberries was known to help reduce thread veins. The doctors expressed interest and surmised that, if it is effective for thread veins, it could also help telangiectasia.
• The doctors also said that a herbal preparation of Horse Chestnut (Aesculus) worked similarly.
General
• The doctors were at pains to emphasise that they were learning at least as much from having a large number of patients in one place, comparing notes, as the patients were learning from them.
• The doctors were also unanimously critical about the lack of knowledge by non-specialist doctors about HHT. They told us that we just had to get used to lecturing our doctors about it and un-confusing them about the condition, its causes and its treatments.
That’s all.
