frequently asked questions

Vascular Malformations may have a whole lot of different symptoms depending on the type and location on the body where they occur. Broadly speaking, symptoms can be grouped into those due just to the size of the malformation - the bulk of the extra tissue - or from pain within it, which isn't necessarily related to size.

Pain from Vascular Malformations is highly variable; some people have a lot of pain, others have none at all. It is very common for pain to be intermitted, present at some times, not at others. 

If the malformation involves muscle there may be pain with exercise, or afterwards.

The effect of the size of the malformation depends on where it is on the body. In some areas it may get in the way and so interfere with some particular function. 

The most common problem is that it affects appearance. Looking different is one of the most common symptoms of a Vascular Malformation, and the one for which treatment is most often needed.

The best treatment for Vascular Malformations is provided by a multidisciplinary team. Teams most often include a surgeon, an interventional radiologist, a dermatologist and a physician, but also other specialists including geneticists, oncologists, haematologists, ophthalmologists and others. The team will meet regularly to discuss cases and refer to each other, and experienced team members often have a lot of knowledge and experience across other team specialties. 

What specialty your treating doctor is trained in is not as important as whether they are working in a team and so have access to all the different specialists skills and treatment that you may require.

Doctors and allied health professionals who specialise in vascular anomalies in Australia or New Zealand should be members of the Australasian Vascular Anomalies Network (AVAN) and possibly also the International Society for the Study of Vascular Anomalies (ISSVA).

Generally speaking, we don't think that Vascular Malformations 'grow' in the way that tumors do (although this may or may not be the case specifically for AVM's, this is currently controversial) so we don't think the malformation will grow back. Having said that, no treatment is ever guaranteed to remove the whole of the malformation, and the parts that are left behind can get more blood/fluid in them and so may cause problems again over time. If those symptoms do come back, then they can be treated if and when they occur. 

There is no advantage in treating them early, so usually no need to monitor for them (again, this may be different for AVMs).

Firstly, genetic testing for Vascular Malformations is different from the usual genetic testing done in children, because the mutations are most often 'somatic' ('mosaic' is another word meaning more or less the same thing) meaning they are only present in the lesion itself, not in the blood or saliva.

Testing is often performed therefore on tissue from the malformation which might be what has been previously removed at surgery and stored in a pathology department, or a new biopsy taken specifically for genetic testing. Testing needs to be ordered by someone with knowledge and experience in Vascular Malformations, usually a clinical geneticist, who knows where to look and what tests to perform.

Where there is doubt about a diagnosis, genetic testing can often make the diagnosis clearer or more specific, and so help predict what will happen in the future. Also, there are big changes occurring at the moment in drug treatment for Vascular Malformations and for some treatments, having a genetic diagnosis is the starting point for getting access to a new treatment.

Yes, absolutely. If you get pain when you exercise, you should check with your doctor, but generally speaking that pain is not a sign that you are doing any harm. Whether the pain is bad enough to stop you exercising is up to you, but you shouldn't stop exercising because of concern that you might be doing damage. Pain while you exercise is a good reason to seek treatment.

In recent years we have learnt a lot more about the causes of Vascular Malformations. It appears that Vascular Malformations are caused by errors in specific genes which are not inherited but which occur at some later stage in growth (called 'somatic' or 'mosaic' genetic variants). Such errors in the genetic code occur is all of us many times during development but are usually of no consequence. The errors which cause Vascular Malformations happen to be the exact errors in the exact place to cause a malformation. There is nothing that the mother has done or not done to make it happen.

In a very small proportion of cases there is an inherited genetic variant, coming usually from one parent, which makes the person more susceptible to having a Vascular Malformation, and possible more than one. Whether and where they actually develop the malformation still depends on random errors in the genetic code during development.

As far as we know, the life expectancy for people with a Vascular Malformation is the same for everyone else. No studies have ever been published on this important question, but we don't have any reason to think otherwise.

Over the last 10 years we have become aware that a small, defined group of patients with Vascular Malformations (such as some patients with Klippel-Trenaunay Syndrome) have a significant risk of blood clots going to the lungs (pulmonary embolism) which if untreated does risk shortening life expectancy. If you have Klippel-Trenaunay Syndrome you should ask your doctor whether your limb has been assessed for this, especially if you haven't seen a vascular anomalies specialist in the last ten years.

Bleeding is not a common symptom for Vascular Malformations, but it does happen sometimes. It happens when the malformation involves the skin or the lining of the mouth, nose or gullet. People who have Hereditary Haemorrhagic Telangiectasia (HHT) have a strong tendency to nose bleeds.

If you have an Arteriovenous Malformation (AVM) then bleeding can be severe, even life threatening and if you have an AVM which involves the skin or the mouth or nose, you should talk to your doctor about what to do if this happens.

If your malformation is not an AVM, then bleeding is more likely to be embarrassing or uncomfortable, but manageable. (* note that some doctors use diagnostic terms like 'AVM' very loosely, and it is not uncommon for people with another type of malformation to be told that they have an 'AVM'. If the diagnosis is not made by someone experienced in treating vascular anomalies, then you should check with a vascular anomalies specialist).

No. A visible birthmark will only be seen if the Vascular Malformation extends up to the skin. If the Vascular Malformation is in the muscle or another deeper tissue, there may be nothing at all to see on the skin. If so, parents may not be aware that the malformation is present until there is some change later in life or symptoms like pain develop.

A Capillary Malformation is a flat, red birthmark of the skin. They used to be called 'port-wine stains' but we now recognise many different types of Capillary Malformation. 'Capillary Malformation of Port-Wine type' is now considered just one of several types of Capillary Malformation.

Yes, but it is important to recognise that malformations often don't have a well-defined margin. They aren't always easy to see at surgery so it is never possible to say with certainty at the end of the operation 

An angiogram is a type of Xray in which a catheter is put through the skin into an artery, and then passed around the vascular tree to inject dye into the malformation. Angiography is the ‘gold-standard’ investigation for AVM, But is a highly specialised, invasive procedure and is only necessary in a few cases.

ultrasound is the usual ’first-line’ investigation for Vascular Malformations, and can give excellent information, but only if it is performed and interpreted by people with expertise and experience in the field of vascular anomalies. Ultrasounds done in suburban X-ray centres that don’t often see Vascular Malformations, especially ones that don’t specialise in children, are often not helpful and may sometimes give misleading information.

There are a number of other tests, particularly MRI but also CT and other imaging studies which may be useful. Angiography would usually only be performed when other tests have been done first, and the patient is already under the care of a vascular anomalies multidisciplinary team.