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Vascular Malformations Centre

The Center

The Center’s director, dr. Raul Mattassi, is a vascular surgeon who dedicated himself to the study and treatment of congenital vascular diseases. He worked with some of the leading experts in that field: professor Stefan Belov, world class Bulgarian surgeon, professor Wayne Yakes, from Denver (US), radiologist and inventor of less invasive techniques, professor Geza Tasnadi, illustrious pediatric surgeon from Budapest and professor Dirk Loose from Hamburg.

During his carreer, professor Mattassi treated over 1500 patients using different surgical and medical techniques. In 1992 he founded a center for the treatment of vascular malformations. He organized theorethical and practical specialization courses on angiodysplasia, in Italy and abroad. Moreover, he is the author of numerous articles and textbooks on the subject.

The Centre deals exclusively with the treatment of vascular malformations, which are located in any area of the body, with the exception of intracranial malformations that are treated by neuroradiology specialists. While it is still widely believed that these diseases are untreatable, advances in knowledge, practice and technologies allow many patients to recover or, at least, improve their situation. It is essential to apply to a highly specialized center such as Humanitas Mater Domini, as angiodysplasias are rare pathologies only a few specialists can fully take care of and just those with extensive experience have a clear perception of the correct therapeutic choices.

Our Center conjugates the specialization and expertise of a multidisciplinary team (composed of vascular surgeon, radiologist and other specialists such as plastic surgeon, orthopedic surgeon, otorhinolaryngologist and others) to deal with the disease in its entirety.

Leading technology devices are available in order to get the best accuracy in customized diagnosis, therapy and surgical procedures.

Vascular malformations

vascular malformation is a vessel abnormality that is existent at birth. Sometimes not immediately recognizable, it grows progressively in childhood and persist or worsen in time. It is caused by errors in formation and development of the vascular system which happen during fetal life and they can affect the arteries, veins, lymphatic vessels, capillaries, or a combination of these.

Consequences, angiodysplasias are extremely variable, from small restricted lesions to extended defects which cause deformity and severe disability. Localization is also various as the malformation may happen in any part of the body such as face, limbs, abdomen or internal organs.

The lack of knowledge of the subject leads to the belief they are incurable lesions while in facts it is quite always possible to successfully deal with angiodysplasias.

Classification

The vascular abnormalities are divided into two clearly distinct groups: hemangiomas and vascular malformations.

1. HemangiomasAn hemangioma is a benign tumor of the newborn.

Hemangiomas are divided into:- Infantile hemangiomas (the most common);- Congenital hemangiomas, which are already present at birth and may regress rapidly (called RICH) or do not tend to regress (called NICH);- Rarer forms as a disseminated form and a form which is associated with bleeding disorders.

These pediatric diseases can often be treated with drugs. In some cases a laser treatment or a surgery treatment, performed in a pediatric specialized center, may be necessary.

2. Vascular MalformationsVascular malformations are errors in blood vessel formation which happen in the embryo.

According to the classification of Hamburg (1986), which is based on the type of vessel affected by the malformation, they are divided into:

Capillary malformations (abnormal presence of numerous small vessels, often on the skin);Among all vascular malformations, those capillaries are most frequently found.Commonly known by the term "flat angiomas", they are characterized by the presence of a dense network of capillaries in the superficial dermo-hypodermic tissue, abnormally and permanently dilated.The anatomical sites which are most often involved are the head and the upper and lower limbs, but these malformations are potentially ubiquitous. They appear as skin patches pink or purplish-red colored, with jagged or sharp margins; they are extremely variable in size and scope and may be isolated or multiple.The capillary malformations persist into adulthood, undergoing a gradual increase in size also in proportion to the growth of the body part in question.

Arterial malformations (defects of the arteries)The arterial malformations are abnormalities of the great arteries. They are very rare conditions.They principally consist in arterioles and are classified into the high-flow lesions.May occur in different conformations and their importance is linked to the place of occurrence.

Lymphatic malformations (defects of the lymphatic vessels, small channels that remove fluid from the tissues)They show up as vesicular lesions such as superficial or subcutaneous nodules composed of dilated lymphatic capillaries or as edematose areas. These lesions appear at birth or before the second year of life, much more rarely during adolescence. They are compressible in the early stages of evolution because of the lack of fibrosis.

Venous malformations (abnormal veins or the presence of defects in the major veins, the most frequent form of angiodysplasia)A venous malformation is usually visible at birth and rarely in adulthood.The appearance varies from blue-purple blotches to papular nodules and soft consistency plaques.Can be localized or extended: the most common sites are the face, trunk, extremities but also bones and internal organs. The lesions are easily compressible and often painful, especially in the morning. Pain is caused by the tendency to stasis and thrombosis.

Arteriovenous malformations (abnormal communications or "short circuits" between arteries and veins)They are fast-flow malformations, the most common in children.Defects are not always evident at birth and usually expand during puberty. Arteriovenous malformations are often intracranial but can also localize to the lower limbs, trunk and internal organs.They appear as a localized swelling which ishot, throbbing, sometimes with palpatory thrill and auscultation breath, covered with skin which appearance is similar to that of flat angiomas.

Combined malformations (an association of two or more kinds of malformation)They can be capillary-lymphatic, capillary-lymphatic-venous or capillary-lymphatic-venous-arterial. Divided into fast and slow flow malformations, are often associated with hypertrophy of skeletal and soft tissues.

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FAQS

Q: What is a vascular malformation?

A: A vascular malformation is a congenital defect of the blood vessels. For an error in the development of the vessels, a zone of abnormal vessels forms before the birth.

Q: Why people is affected by this disease?

A: A vascular malformation is caused by any pathological phenomenon that has altered the normal process by which blood vessels are formed in the fetus. Currently, it is thought that in many cases is due to an alteration of a gene and this phenomenon is called "mutation". Mutation occurs by chance and it does not seem to be caused by external factors such as nutrition, trauma or any other. Therefore it’s impossible to argue that the malformation may be due to behavioral errors or accidents incurred during pregnancy. It 's really important to stress this point because mothers often feel guilty in some way, but this is totally baseless.

Q: Is it hereditary? Can it be transmitted to offspring?

A: The knowledge is not sufficiently advanced yet. There are cases in which angiodysplasia is actually transmitted from parent to child, but they seem rare. There is also a chance that the tendency to malformation is transmitted without showing up immediately and may appear in the grandchildren, but it is still too early to give a definitive opinion. Genetic studies are underway on this issue.

Q: Is angiodysplasia a tumor?

A: No, it has nothing in common with tumors and will never give rise to metastases as in the case of cancer, nor will behave in a similar way.

Q: Is angiodysplasia an incurable disease?

A: You can’t say it is, as it depends on the individual case. In many patients, it is possible to completely heal the malformation. In others, a good improvement may be achieved, allowing the patient to lead a normal life but, if the disease starts to grow, it may be necessary to perform various treatments and repeat them over time. It’s likely to say that they are very rare cases in which any treatment is impossible.

Q: What can be done to prevent the disease?

A: If there is no sign, there is no reason to do anything. If the malformation is present, you should avoid traumas in the area because they can stimulate the growth. Birth control pills, also, may promote the deterioration of the disease.

Q: Can I have children?

A: It is known that pregnancy can worsen the defect, but there are also many cases of women who have completed a pregnancy without any problems, despite the angiodysplasia. For sure this is a sensitive issue, which should be carefully evaluated by a specialist in birth defects and carefully discussed with the patient.

Q: Where should I go for treatment?

A: At present, there’s a consensus over the importance of dedicated multidisciplinary teams of specialists to deal with the single patient and his disease.

news

Vascular malformations: rare but yet treatable diseases

Foto Chirurgia vascolare166 v1

The experience of Mater Domini’s Professor Raul Mattassi, a vascular surgeon who devoted himself for over thirty years to the study and treatment of congenital vascular diseases.

Vascular malformations or angiodysplasia (also called "angio" by patients) are errors in the process of formation of the vascular system during fetal life. During the training of the child, in fact, the uterus is going through a phase in which there is a network of primitive small vessels spread everywhere. Normally, before birth, these small vessels spontaneously disappear and are replaced by permanent ones. If this process does not take place in any area of the body, there remain the "primitive" capillaries that, unlike the normal blood vessels, tend to grow slowly over time. The defects may also be formed because an error occurs in the definition of the large vessels (arteries or veins). For this reason, the vessels can be altered or entirely missing in a more or less extended stretch.

Vascular malformations are not always readily recognizable, because they initially may be modest in size and develop only later. They are generally not transmitted to offspring, except in exceptional cases. "They have very variable shapes, ranging from a small red or bluish tinge to the skin, the so-called "flat angioma" to extensive deformation of the body. They can be localized anywhere and show up as areas of abnormal vessels that infiltrate the tissues, causing swelling or pain that can be also significant and continuous. In other cases nothing of evident shows up, because the malformation is deep into the body, but the damage may be important and give serious deformity and disability, such as an excessive growth of a limb, or sudden bleeding phenomena" explains Professor Raul Mattassi, Head of Humanitas Mater Domini’s Angiodysplasias Center.

The symptoms range from severe pain, deformities which may be significant, growth defects of body segments, such as the limbs, bleeding, and more.

A correct diagnosis requires a good understanding of the problem as the doctor needs to know what to look for. The clinical examination alone is almost never enough to recognize the malformation. "The skin abnormalities, such as nevi (popularly called "cravings") and red or bluish coloration of the skin can hide much more severe defects in depth. This is the so-called "iceberg effect". In certain cases, also muscles, bones and even the nerves may be affected"says the specialist.

The choice of suitable tests is critical in order to recognize the pathology. The Doppler ultrasound, magnetic resonance imaging, angiography, venography are all very useful. But carrying out this tests in a "standard" way is too few: it is necessary that the doctor who performs them has to know the problem and what is exactly to be highlighted. Unfortunately, as these are rare diseases, only a few physicians have the opportunity to see a sufficient number of cases, with the exception of the few specialized centers which are devoted to this disease.

Advances in the knowledge of these rare diseases have greatly enhanced the chances of cure. Today, modern surgical techniques and minimally invasive methods can be an advantage, such as a treatment that uses injections of fluids that occlude the vessels using a thin needle, guided by ultrasound. This method is good to act with precision in remote places. The technique that uses superselective embolization of the abnormal vessels, which consists in reaching the defected area, passing through the arteries with a thin catheter which releases substances that close the vessels is another chance. A further possibility is offered by the laser, which eliminates abnormal vessels thanks to a thin fiber that can be pushed up to the correct region.

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