Vascular and venous malformations The Phlebology Clinic / Vascular and venous malformations Introduction Description of the condition Risk factors Treatment options Frequently asked questions Venous insufficiency in young adults Introduction Congenital vascular malformations (so-called angiodysplasias) are diseases with a highly variable clinical picture. They can be limited or extensive. They arise as a result of abnormal developmental processes at an early stage of fetal life. Vascular malformations develop as early as the embryonic stage - from the sixth week of fetal life at the earliest. Their incidence in the general population is estimated to be up to 4%. They lead to structural abnormalities of the vascular system, which over time lead to functional abnormalities (of a body part, organ or limb). The disease manifests visually in the form of pathologically altered vessels that are part of the circulatory system. Most vascular malformations grow as the child grows. Unlike hemangiomas, malformations do not disappear as the child grows; on the contrary, they increase in size as the child grows. For this reason, the treatment of this type of condition is best started after the child's growth is complete, i.e. after the child has reached what is known as the "golden age". definitive growth (For girls this is after 16-18 years of age, for boys a little later after 18-19 years of age). The symptoms resulting from vascular malformations depend on both the anatomical region and the location of the vascular abnormality and the type of malformation. It is important to remember that vascular malformations can occur in all organs and parts of the body. However, the most commonly affected are: upper limbs, lower limbs, pelvis and trunk. Abnormal blood circulation in limbs and organs often results in persistent pain, swelling, discolouration of the skin and leads to secondary diseases, manifesting as pain, reduced function or even complete loss of function of the affected body part. Venous malformations - are they the most common? Venous malformations are low-flow vascular malformations (LFVMs). LFVMs) not showing signs of malignancy. They are made up of abnormal vascular channels that can, in extreme cases, resemble large venulectasias or varicose veins. It is estimated that the incidence of venous malformations in the general population is as high as 1.5%. It is estimated that they represent approximately 65-70% All vascular malformations. It is important to remember that in the case of venous malformations, approximately 20% patients have more than one malformation. They often accompany other congenital malformations and, in complex cases, can be part of complex syndromes. W zależności od etapu rozwoju, w którym doszło do zatrzymania formowania się układu żylnego płodu, malformacje żylne dzieli się na: trunk (ang. truncular) – dotyczące dużych pni i struktur żylnych w naszym organizmie oraz post-inflammatory (ang. extratuncular), dotyczące mniejszych struktur i gałęzi żylnych. Image of a complex diffuse venous malformation of the right thigh on MR venography. © Cezary Szary Trunk malformations arise at a later stage of embryogenesis and affect the major vascular trunks. These include such changes in the formation of the venous system as aplasia/hypoplasia (complete absence or underdevelopment of the vessels), stenosis or membranes (or septa) in the lumen of the vessels and ectasias, i.e. dilatations (local or generalised). Post-inflammatory malformations arise early in embryogenesis. They involve smaller vessels, often capillaries. They may be confined to a single site or take a diffuse form. Knowledge of the type of venous malformation is crucial for planning a therapeutic strategy. It must be remembered that in the case of complex venous malformations, treatment (if at all possible) is a multi-stage procedure. Klippel-Trenaunay syndrome (KTS) The most common syndrome associated with complex venous malformations Klippel-Trénaunay syndrome (KTS). This syndrome in its typical form is characterised by the triad of clinical symptoms: (1) so-called capillary malformations occur, (2) venous malformations and (3) hypertrophy or, less commonly, atrophy of bone and muscle tissue. In most cases, one lower limb is affected. The lesions usually spread to the lower back and gluteal soft tissues. In women, the soft tissues of the perineum and vulva are also frequently affected. At Klippel-Trénaunay syndrome typically there is a so-called Servelle's marginal (marginal) vein. It is a characteristic dysplastic vessel of the superficial system with a posterolateral course on the lower limb. It is often very dilated and tortuous. It not infrequently forms a route of the collateral circulation and may be the only route of venous outflow from the lower limb. Therefore, before any intervention in the venous system in a patient with KTS, the outflow conditions in the deep venous system should be carefully checked. In these patients, Hypoplasia or aplasia (complete absence of a vessel) usually affects the femoral and/or popliteal veins. It is important to remember that in these types of venous dysplasia syndromes, the vessels forming the complex malformation do not have a typical vascular wall structure. They often do not have venous valves. Thus, they do not de facto form typical varicose veins and should not be treated as such either. In Klippel-Trénaunay syndrome, changes in the structure of the lymphatic system are also quite often co-occurring. The patient suffers from advanced venous-lymphoedema.Klippel-Trénaunay syndrome should be distinguished from Parkes-Weber syndromethe essence of which is the presence of arteriovenous fistulas. Characteristics of venous malformations: the most common type of angiodysplasia in the general population (approximately 65%) present from birth in 90% cases (although they may not be visible at first) typical symptoms: acute, spasmodic, tension, feeling of heaviness, overheating location: lower limbs (especially thigh and shank), face and neck, trunk and internal organs gene mutations found: TIE2, PIK3CA and TEK occur equally often in women and men development of symptoms usually during adolescence visible as bluish-blue coloured skin, soft, compressible subcutaneous nodules; often accompanied by limb asymmetry in women, a marked increase in symptoms during pregnancy and during hormonal changes other aggravating factors include: physical exertion, prolonged standing, temperature changes and trauma Mechanism of venous malformations Venous malformations develop very early in fetal life. Usually as early as 6-9 weeks. It is then, during the formation of the vascular system, that abnormalities in the development of the veins can occur. In venous malformations, some of the venous vessels form abnormally - they are too wide, tortuous or have weakened walls. Recent research suggests an important role for genes in the formation of venous malformations. Mutations in the TIE2/TEK and PIK3CA genes are of key importance. All indications are that the design of our organism's plumbing system is subject to errors right from the planning stage. These genetic 'design errors' lead to abnormal development of the venous vessel walls. Did you know? Jakakolwiek ingerencja terapeutyczna w malformację żylną powinna być poprzedzona wnikliwą oceną diagnostyczną. Dobra strategia leczenia, oparta na indywidualnych cechach Pacjenta i znaleziska żylnego, są kluczem do sukcesu. Zawsze podkreślamy, że pochopne działania bez odpowiedniego przygotowania mogą prowadzić do nasilenia problemu, a nawet trwałych uszkodzeń w ciele Pacjenta. In properly constructed venous vessels, the vascular wall is elastic and contains an adequate amount of muscle fibres. In venous malformations, this structure is disrupted:The vessel walls are flaccid and very weakened, there are too few or no muscle cells, The venous vessels are irregularly dilated, often resembling varicose veins, blood flow is slowed within them - this can lead to intravascular coagulation. Diagnosis of venous malformations The first activity in the management of venous malformations is to distinguish them from hemangiomas. Hemangiomas become apparent within the first few weeks of life and grow rapidly, increasing disproportionately to the child's height. They sometimes involute with age. Venous malformations grow proportionally with the child and do not disappear with age. On the contrary, over time they interfere with the function of the organ or limb and undergo secondary changes, such as thrombophlebitis. A Doppler ultrasound examination performed by a specialist plays a key role in the initial diagnosis. It allows us to answer the question of whether we are dealing with a slow-onset malformation or high-flow volume machines (HFVMs). Venous malformations on Doppler examination usually show slowed monophasic or biphasic flow or difficult to palpate (as do lymphatic malformations, with which they quite often co-occur). On ultrasound, it is often difficult to determine the extent of the lesion and the relationship to deep structures. For this reason, in their accurate (pre-surgical) assessment, we use other diagnostic methods such as: low-dose digital phlebography computed tomography venography (CTV) magnetic resonance venography (MRV)magnetic resonance venography (MRV) This latter imaging method - magnetic resonance venography (magnetic resonance venography, MRV) - is the examination of choice for this type of lesion and is essential in qualifying the patient for surgical treatment. In the case of vascular malformations, evaluation with the administration of gadolinium contrast medium with dynamic assessment of venous bed contrast is always performed. It should be borne in mind that a well-conducted initial diagnosis using Doppler ultrasonography and magnetic resonance venography allows less iodine contrast agent to be used during the treatment procedure, shortening the procedure time and thus absorbing a lower dose of ionising radiation. Treatment options for venous malformations medical compression therapy applied every day (round and flat compression products selected to suit the patient's anatomy, usually covering the whole lower limb) supportive pharmacological treatment (phlebotropic drugs - play a role in reducing vascular permeability, reducing oedema, improving microcirculation and having an anti-inflammatory effect) and anticoagulant treatment often implemented on a permanent basis minimally invasive treatment using non-thermal (sclerotherapy, vein ligation, chemical embolisation) always under ultrasound and X-ray guidance intravenous treatment thermal (EVLA - laser therapy, EVRF - radiofrequency wave) ensures precision, low risk of complications and short recovery time endovascular treatment under interventional radiology modifying venous outflow pathways (venous angioplasty, venous stenting). surgical treatment vessels in selected cases - usually used in severe cases, with large malformations with multiple complications Michał Zawadzki, MD, PhD and Cezary Szary, MD. Vascular laboratory of the Department of Phlebology in Warsaw. Treatment methods 01 / Compression therapy 02 / Foam sclerotherapy 03 / Laser vein sealing 04 / Vein bonding 05 / Miniflebectomy 06 / Venous embolisation Mostlyquestions asked Are venous malformations hereditary? Can my child have them too? Venous malformations can have a genetic basis (many gene mutations have already been discovered that share responsibility for their occurrence), but they are not always inherited. In many cases, there are so-called spontaneous mutations. If there is a family history of venous malformations, it is worth performing genetic tests and consulting a specialist. The risk of passing the malformation on to a child depends on the specific type of lesion and the pattern of inheritance. Can I safely get pregnant if I have a venous malformation? Pregnancy in patients with venous malformation is possible but requires a particularly thorough pre-pregnancy diagnosis (comprehensive evaluation of the venous system by Doppler ultrasound and MR venography for changes in the main venous trunks and the presence of outflow abnormalities), estimation of the risk of thrombosis (thorough family history + tests for congenital thrombophilia) of continuous care and intrapregnancy monitoring. Intra-pregnancy compression therapy is necessary in this type of case. We do not recommend that the 3rd trimester of pregnancy falls in the summer, when the risk of venous thrombosis and thromboembolic complications is much higher. It is also important to exclude at the pre-pregnancy stage an anatomically determined pelvic venous insufficiency. If it is present, it is advisable to treat lesions that may cause significant exacerbation of venous insufficiency symptoms at the intrapregnancy stage. Hormonal changes during pregnancy can significantly affect the enlargement of the malformation and its adverse effects on the deep venous system. The delivery plan should always be determined individually, taking into account the location and size of the malformation. What are the characteristics of complex venous malformations? In addition to typical simple malformations such as venous or lymphatic malformations, there are also complex pathologies that are a mixture of different types of vascular malformations, hemangiomas and other developmental abnormalities within extravascular tissues. Among the most common pathologies in phlebology with features of complex congenital vascular malformations is the Klippel-Trénaunay syndrome. This syndrome was first described in detail in 1900 by two French physicians (Maurice Klippel and Paul Trénaunay) and is typically characterised by involvement of one limb, usually the leg. In addition to the presence of a hemangioma, dysplastic veins on all or part of the leg, it is usually accompanied by soft tissue hypertrophy and elongation of the leg, often resulting from bony hypertrophy. The cause of this type of syndrome is early developmental abnormalities, which occur at the 3-6 week stage of pregnancy. From our practice, it is evident that in patients with this type of vascular developmental abnormality, the problem is defects in the structure, as well as in the number of veins of the deep and superficial systems. For this reason, any treatment should be undertaken after specialised imaging studies have been performed. In the Phlebology Clinic, we always start in such cases with a Doppler ultrasound examination of the veins covering the lower limbs, often the intimate area, small pelvis and abdominal cavity. In addition, angio- or venography examinations on magnetic resonance or computed tomography are performed on every patient with a complex vascular malformation before treatment is started. If necessary, highly specialised imaging examinations performed by our radiologists in the hospital setting, such as phlebography or varicography, are also carried out. What are the most common complications of venous malformations? In the absence of prophylaxis or inadequate treatment, venous malformations can lead to a number of problems and potential complications. The most common complications are chronic pain, swelling, venous thrombosis, bleeding and ulceration on the skin. They can also cause deformities of the limb and interfere with growth. If congenital hypercoagulability (known as thrombophilia) co-occurs, thromboembolic complications are more common. For this reason, the use of medical compression therapy and anticoagulants is necessary in these patients. Large malformations may also limit joint mobility and impair the function of the affected limb. When is the best time to start treatment for venous malformation? Treatment of a venous malformation is best initiated after a thorough diagnosis and careful assessment of the child's symptoms. Early intervention is not always better, especially in children whose venous malformations do not produce significant symptoms, do not affect the development of a limb or organ and are not complicated by venous thrombosis. In these children, it is better to wait until the end of growth and carry out thoughtful treatment. It is important to apply prophylaxis at a young age: the use of tailored compression devices, avoidance of trauma and strength sports and immobilisation, which can lead to thrombotic complications. In severe situations, with constant worsening of symptoms, treatment at an earlier age is recommended: 12-16 years. Why is Doppler ultrasound of the pelvic and abdominal veins so important?Are you afraid of invasive examinations? ? Doppler ultrasound of the pelvic and abdominal veins is painless, safe and non-invasive! In this video we explain how the test works and why it is so important for the diagnosis of many venous conditions. Be sure to watch before you go for a vein examination! ? Dr Venus: virtual patient advisor Looking for an answer to your vein question? Ask our Dr. Venus! Ask Dr Venus a question Where can venous malformations occur? Venous malformations are most commonly located in: the legs - accounting for as many as 40-45% cases of all venous malformations. In the head and neck region - 40% cases. In the intimate periphery in women - they can also occur, although they are less common. 01 / Vascular spider veins Dilated subcutaneous capillaries and reticular veins are a common symptom heralding the development of venous insufficiency. Their occurrence should not be underestimated. 02 / Varicose veins of the lower limbs They are the most common symptom of venous insufficiency of the lower limbs. Their occurrence should not be underestimated. At the Phlebology Clinic, we treat venous disease causally. 03 / Venous edema of the shin An enlargement of the shin circumference that increases in the evening, accompanied by a feeling of heaviness, is usually a symptom of venous insufficiency. Think about having a venous Doppler ultrasound examination! 04 / Pelvic venous insufficiency Painful and prolonged periods, heaviness in the legs during menstruation, pain during intercourse and burning in the intimate area are just some of the symptoms of pelvic venous insufficiency. Find out more! 05 / Venous compression syndromes It is a group of anatomically determined venous disorders leading to early onset of pelvic venous insufficiency and varicose veins on the legs. It affects both ladies and gentlemen! 06 / Venous disease in pregnancy Not sure when to start wearing compression stockings? Do you suspect vulvar varicose veins or have noticed sudden swelling of a limb during pregnancy! Don't wait to develop venous disease - consult our phlebologist for your symptoms. 07 / Varicose veins of the spermatic cord Up to 40% cases of male infertility may be related to varicose veins of the seminal vagina. This form of pelvic venous insufficiency is one of the more common causes of varicose veins on the legs and a cause of discomfort in the groin and scrotum. Early diagnosis increases the chance of a full cure! 08 / Venous thrombosis Swelling of the leg, pain and redness are alarm signals that should not be ignored. Venous thrombosis is an emergency condition that requires immediate diagnosis by Doppler ultrasound. If untreated, it can lead to life-threatening pulmonary embolism. 01 / 08 Modern vein treatment We offer treatment both on an outpatient basis and in day ward admissions. The stay is of short duration. The patient spends between 1 and 5 hours in the Clinic. Make an appointment
