Hereditary haemorrhagic telangiectasia
Hereditary haemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome, is a congenital quirk in the way blood vessels are built.
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Medicines commonly prescribed for Hereditary haemorrhagic telangiectasia
For informational purposes only. Always consult a doctor before using any medicine.
Dosage form: INJECTABLE, 6000 IUActive substance: erythropoietinManufacturer: Pfizer Europe Ma EeigPrescription requiredDosage form: INJECTABLE, 1000 IU/0.5 ml of epoetin alfaActive substance: erythropoietinManufacturer: Janssen Cilag S.A.Prescription requiredDosage form: INJECTABLE, 33.3 mcg/ml of epoetinActive substance: erythropoietinManufacturer: Ratiopharm GmbhPrescription required
Hereditary haemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome, is a congenital quirk in the way blood vessels are built. In certain places an artery joins a vein directly, bypassing the capillaries, and the wall of that junction is thin and brittle. From the outside it all looks like frequent nosebleeds and red dots on the lips and fingertips, but the main part of the condition is hidden inside: similar junctions occur in the lungs, the brain, the liver and the bowel, and it is those that shape the outlook. The good news is that almost everything dangerous here can be found in advance and made harmless before it happens.
Why the vessels grow wrong
The cause is a change in one of the genes responsible for proteins in the inner lining of blood vessels. Without them the wall forms incompletely: in certain spots the capillary bed is never laid down, and blood runs from artery to vein at full pressure, stretching a thin vessel.
Inheritance is straightforward: a single altered copy of the gene from either parent is enough, and each child of such a person has a fifty per cent chance of inheriting it. The condition cannot skip a generation, yet within one family it shows itself very differently: in one relative it never goes beyond the occasional nosebleed, while another has a large malformation in a lung. A mild course in a parent therefore says nothing about what a child will get.
The disease is rare but not exceptional: roughly one person in five to eight thousand. It is far from always recognised, because nosebleeds get explained away for years by dry air and fragile vessels.
What can be seen from the outside
Nosebleeds are the commonest and usually the earliest sign, and almost everyone with the condition has them. They tend to start in childhood or the teenage years, come without any provocation including at night, and grow more frequent and heavier with time. Their source is those dilated vessels in the lining of the septum, which is thin, dry and easily damaged. For many people this is the main problem of the disease: it gets in the way of sleeping, working and travelling, and quietly drains the body of iron.
Red dots, the telangiectases, appear later, generally after the age of twenty or thirty, and multiply as the years go on. They are bright red or purple spots the size of a pinhead that blanch under pressure and refill at once. Their favourite sites are recognisable: fingertips, lips, tongue, the lining of the mouth and nose, and less often the face and ears. In themselves they are not dangerous, and they are usually removed for cosmetic reasons.
Hidden blood loss from the nose and the bowel leads to iron-deficiency anaemia, which creeps up unannounced: tiredness, breathlessness on the stairs, pallor, brittle nails and sometimes an odd craving to chew ice. Diet alone will not cover that shortfall — with continuing losses iron is taken as a supplement, and where it is poorly absorbed or the anaemia is severe it is given into a vein.
What happens inside the body
This part matters most, because internal malformations usually give no sign at all until the moment of disaster.
Lungs. An artery-to-vein junction inside the lung works as a short cut past the filter: blood skips the pulmonary capillaries, fails to pick up oxygen and, far more importantly, carries onwards everything the capillaries normally hold back. A small clot from a leg vein reaches the brain and causes a stroke, and bacteria that enter the blood during a tooth extraction produce a brain abscess. This is exactly why lung malformations are treated even when a person feels perfectly well. From it follow several rules for life: an antibiotic before dental and other procedures where bacteria may enter the blood; a filter on any intravenous line so that air cannot get in; and no scuba diving.
Brain. Malformations in the brain occur in about one affected person in ten. They are usually silent, but they can bleed or cause seizures or persistent headache. Whether to intervene is decided case by case, weighing the risk of the procedure itself.
Liver. Altered vessels in the liver are common and in most cases need nothing beyond monitoring. Occasionally a large volume of shunted blood overloads the heart or compromises the blood supply to the bile ducts. Interfering with the liver in this condition is dangerous: both biopsy and attempts to block the vessels cause serious complications, so specialists deliberately leave such malformations alone.
Stomach and bowel. Bleeding from here is usually invisible and shows itself only as an anaemia that stubbornly resists iron. It more often begins after the age of fifty.
How the diagnosis is reached
The diagnosis is clinical and rests on four features: repeated nosebleeds with no cause; telangiectases in the characteristic places; a malformation in an internal organ; and the same diagnosis in a close relative. Three of the four mean the diagnosis is established; two mean it is likely.
After that it is confirmed and mapped out:
- genetic testing, most useful in a family where it is already known which change to look for, since relatives can then be checked with a single test;
- an echocardiogram with contrast agitated with air, a simple and safe way to see blood bypassing the pulmonary capillaries;
- a CT scan of the chest if such a shunt is found;
- an MRI scan of the brain at least once;
- a full blood count and iron stores, checked regularly.
Every close relative of someone with this diagnosis needs testing regardless of symptoms: half of them will have the same thing, often with nothing to show for it.
Living with the bleeding
The bleeding cannot be abolished, but reducing how often and how heavily it comes is entirely realistic. Start with the simple daily measures:
- humidify the bedroom air and the lining of the nose, with saline sprays by day and an ointment at night: dry mucosa bleeds far more readily;
- do not pick the nose or blow it forcefully;
- when bleeding starts, sit down, tilt the head forward and pinch the soft part of the nose for fifteen minutes without checking early, and do not tip the head back;
- go through all blood-thinning medicines and painkillers with your doctor, as some of them increase bleeding. Stopping prescribed treatment on your own is not the answer; reviewing it together is.
Where that is not enough, procedures with an ear, nose and throat specialist help: laser cauterisation of the dilated vessels, injection of sclerosing agents and, in severe cases, a skin graft inside the nose or closure of the nasal passage. Drug approaches exist too: medicines that slow the breakdown of a clot, and medicines that suppress the growth of new vessels, used for stubborn bleeding under specialist supervision. Packing the nose with dry gauze is avoided in this condition, because removing it tears the lining and the bleeding starts again; soft coated packs that do not stick are used instead.
Red dots on the skin, when they bother someone cosmetically, are removed with a vascular laser or intense pulsed light: the light heats the vessel, which collapses and stops being visible. The procedure is felt but usually needs no anaesthetic and leaves almost no mark.
Pregnancy, children and everyday life
Pregnancy calls for separate attention. Blood volume rises, and a lung malformation that has been silent for years may bleed, most often in the second half of the pregnancy. The lungs are therefore best assessed before conceiving, and care should be with a team that knows the condition. Tell your doctor and midwife about the diagnosis, or about cases in the family, at the very first appointment. Birth itself usually goes normally, and the condition on its own is no reason to give up on having children.
Children in families with this diagnosis have their lungs and brain checked even when they are entirely well, and the checks are repeated later, since malformations can appear over time. Otherwise life is ordinary: work, sport and flying are not forbidden, and the specific restrictions, scuba diving among them, are named by the doctor on the basis of what has actually been found in you.
Call an ambulance at once (in Europe, the single number 112) if any of these appear:
- sudden weakness or numbness of the arm and leg on one side, a drooping face, slurred speech — signs of a stroke, the risk of which is genuinely raised in this condition;
- a sudden, worst-ever headache unlike any before, particularly with vomiting or a seizure;
- coughing up blood, sudden breathlessness or chest pain;
- a nosebleed that cannot be stopped, or heavy vomiting of blood;
- black, tarry stools.
Growing weakness, dizziness and breathlessness on ordinary exertion are not a reason for an ambulance, but they are a reason to see a doctor within days and have the blood checked.
Online consultation
Remotely you can do the most important thing: raise the suspicion and build a plan. The doctor will go through how often and in what circumstances the nose bleeds, whether there are red dots in the typical places and whether there have been similar stories in parents or siblings, and will say whether that fits the diagnosis and which investigations come first. A video appointment is also a good place to go through results and scans you already have, to discuss the choice of iron supplement and the monitoring of anaemia, and to clarify which precautions apply to you personally before a trip, an operation or a dental appointment. The signs on the list above are not assessed remotely — with those you call for help straight away.
This material is for information only and does not replace medical advice.
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