The collective term vascular malformation refers to various manifestations of benign malformations of the blood and lymph vessels. The disease occurs rarely, is congenital, but is not hereditary. All body regions can be affected by vascular malformations, primarily occurring on the arms and legs as well as in the head and neck region. Although the abnormalities are present at birth, they usually do not become visible until puberty or young adulthood. Some malformations have only cosmetic relevance, but others can be very painful and dangerous.
What are vascular malformations?
Vascular malformations – also known as vascular malformations – are malformations of the blood or lymph vessels that develop in the embryonic stage. In principle, they can occur in all regions of the body and can affect the skin as well as muscles or organs. The manifestations of the anomalies are diverse. Vascular malformations with a fast blood flow (“fast-flow”) are distinguished from malformations with a very slow flow (“slow-flow”). The former include malformations involving the arteries, while the latter include venous, capillary and lymphatic vascular malformations. Veins, arteries and lymphatic vessels can be affected separately or in combination. Venous vascular malformations are the most common manifestation of this disease, accounting for approximately 64 percent.
Causes
The defects in the structure of the vascular system are due to an embryonic maldevelopment that can occur during the growth of blood vessels: The growth, called angiogenesis, occurs through sprouting or fission processes of preexisting blood vessels. If the process of angiogenesis is disturbed, remnants of the embryo‘s “supply network” remain. Fistulas or tumors may form on the vessels of this network, which are then called vascular malformations.
Symptoms, complaints, and signs
The parts of the body affected by the vascular growths no longer receive a proper blood supply and become swollen. Skin changes occur, as well as, in a further stage, open sores that fail to heal and eventually cause the tissue to die. Possible symptoms also include repeated bleeding, a feeling of pressure, or changes in the adjacent bones and body parts, for example the jaw. Patients complain of pain in the affected limbs, and there may be sequelae, functional limitations, or even complete loss of function.
Diagnosis and progression
As variable as the clinical picture is, so different are the courses of the disease and its symptoms. The clinical pictures can be differentiated according to external, superficial vascular malformations and internal, deep vascular malformations. If different types of vessels are affected at the same time, there is often a large or small growth of the affected body part. Therefore, a successful therapy requires a systematic diagnosis as well as a correct classification of the present appearance of the malformation. After taking the patient’s medical history (anamnesis) and a clinical examination, various imaging procedures can be used. A suitable and gentle procedure is the non-invasive (“non-penetrating”) ultrasound examination, known as sonography. Magnetic resonance imaging (MRI) is another non-invasive and X-ray-free procedure that provides optimal images of soft tissue and the connection between blood vessels and organs, nerves or muscles. One disadvantage of MRI compared to sonography is the relatively long duration of the examination, which therefore often requires sedation in children. Computed tomography (CT) offers another possibility of apparative diagnostics, which, however, is associated with high radiation levels. The results are less good compared with MRI, but additional calcifications and bone involvement can be visualized.
Complications
In general, a vascular malformation can occur in any area of the body, leading to symptoms or complications in different regions. However, most complaints are not recognized until adulthood or puberty and do not initially show up in childhood. A vascular malformationb does not necessarily lead to complications or special complaints in every case.Not infrequently, it represents only a cosmetic complaint, in which there may possibly be a lowered self-esteem or inferiority complexes. Furthermore, however, the vascular malformations can also lead to short stature or directly to malformations of the internal vessels. This increases the risk of various diseases that may result from reduced blood flow. The number and frequency of bleeding is also greatly increased by the vascular malformation. Not infrequently, patients are also affected by pain and swelling. The pain can also occur in the form of pain at rest, leading to sleep problems. In most cases, no complications occur during treatment. With the help of surgical interventions, most of the complaints can be alleviated and combated. As a rule, the patient’s life expectancy is then not reduced by the vascular malformations.
When should you see a doctor?
A physician should be consulted as soon as there is a diffuse feeling of illness. If there is a feeling of pressure inside the body, general malaise, internal weakness or fatigue, a doctor is needed. If bruises form repeatedly for no apparent reason or if pressure pains are felt, these signs should be examined by a physician. In case of pain, circulatory problems, palpitations or disorders of the cardiovascular system, a doctor should be consulted. If dizziness, unsteadiness of gait, flickering eyes or nausea as well as vomiting occur, a visit to the doctor is necessary. If the usual level of performance drops, the need for sleep increases or rapid fatigue occurs, a doctor is needed. If concentration or attention is disturbed, a doctor should be asked for help if the symptoms persist over a longer period of time. If swelling occurs on the body or ulcers form, these changes should be examined and treated by a physician. In the case of open wounds, sterile wound care must be provided. If this cannot be ensured, a visit to the doctor is necessary. If the wounds become inflamed or do not heal within a few days, a doctor is needed. If bleeding of various kinds occurs repeatedly, a doctor must be consulted. Problems and irregularities of the bones or joints should also be examined by a doctor.
Treatment and therapy
Treatment of vascular malformations requires close interdisciplinary collaboration between neuroradiologists, oral surgeons, otolaryngologists, and other specialists. The need for treatment depends on the type, location, size, and any bleeding tendency. More harmless manifestations do not require invasive therapy. While more complex vascular malformations used to require surgical intervention, today the focus is on microinvasive radiological therapy. This is based on the procedure known as embolization. In this procedure, a so-called angiography catheter is inserted through the skin to the affected vessel via a minimal access. The feeding vessels are selectively closed either with small metal coils or with a sclerosis drug, for example high-percentage alcohol or ethoxysclerol foam. The procedure is usually performed under local anesthesia; general anesthesia is not usually necessary. In most cases, repeated treatments are required because the vessels have multiple inflows and outflows. For certain manifestations of the disease, “laser-induced interstitial thermotherapy (LITT)” may also be the treatment of choice. This involves minimally invasive insertion of a laser fiber directly into the vascular defect and broad scattering of laser light in the tissue. The aim is to trigger a local inflammatory reaction and the formation of thrombi, thereby achieving – after several treatments – obliteration of the tissue. Overall, the treatment of vascular malformations is safe and relatively low in complications. Sclerotherapy of venous malformations often results in swelling and pain after treatment.
Outlook and prognosis
The prognosis of vascular malformation should be evaluated according to the individual patient’s circumstances. In some affected individuals, there is no significant impairment or dysfunction throughout life. Although the disease is present and diagnosed without error, they report freedom from symptoms. In a more severe form of vascular malformation, cosmetic blemishes occur.In many cases, these can be altered by surgery, but are only of cosmetic relevance. If the malformations are more extensive, there is the possibility of a life-threatening course of the disease in severe cases. To avoid this, surgeons perform corrective surgery. If the operation proceeds without complications or secondary diseases, the patient can be discharged after a short time as symptom-free. To ensure this, control examinations are recommended, especially in the initial phase. If no irregularities are found, the patient is normally cured for life. However, this prognosis can only be made after the child’s growth and development process has been completed. During this time, there is a possibility of changes or the development of new malformations that also need to be corrected. Patients with vascular malformation should pay attention to their blood circulation throughout their lifespan to improve their health. If circulatory problems are noticed, a visit to the doctor is necessary as soon as possible so that treatment can be initiated immediately.
Prevention
Because vascular malformations are usually congenital, prevention is not possible. However, early detection and treatment improves the success of therapy. Adjunctive physical measures such as compression and physiotherapy can help prevent functional limitations or improve existing limitations. Exercise therapy can also be useful for those affected. Patients should also receive psychological support. Since the disease changes over the course of a person’s life, spontaneous healing can be ruled out, and malformations can also continue to increase, regular check-ups should be performed. Growth spurts of vascular malformations can be caused by hormones during puberty or pregnancy as well as by injuries or surgical procedures. The goal of disease management measures is to allow the affected organ to be used as unrestrictedly as possible.
Aftercare
In most cases of vascular malformation, no options for aftercare are possible or necessary. Affected individuals rely primarily on medical treatment for their symptoms, although not all vascular malformations require mandatory treatment. However, a doctor should always be consulted at the first signs in order to detect and remove dangerous vascular malformations at an early stage. This is the only way to prevent further complications or the development of tumors. In most cases, malformations are removed by surgical intervention. This does not lead to any particular complications. After such an operation, affected persons must take care of their body and rest. Stressful activities or sports should be avoided. Above all, the affected areas should be specially protected. Even after successful removal of the vascular malformation, regular examinations of the entire body are advisable in order to detect and treat any recurrence in good time. In case of pain or swelling, visits to a doctor are also necessary. If the vascular malformations are removed early, the life expectancy of the affected person is usually not reduced. Since the complaint can also have a negative impact on the aesthetics of the affected person, help and support from one’s family and friends is very useful in this regard.
What you can do yourself
As a rule, there are no particular self-help or self-treatment options available to the affected person with a vascular malformation. Patients are thus always dependent on treatment by a doctor in their lives to avoid further complications and discomfort. In case of severe muscle spasms, an emergency doctor can be called directly or the hospital can be visited. Since many affected people also suffer from paralysis or significantly reduced sensitivity as a result of the vascular malformation, they are often dependent on the help of other people in their daily lives. Especially the help of family and friends is very efficient. Visual disturbances can usually be compensated by visual aids. In the case of balance disorders, walking aids can be useful to prevent accidents and other injuries.Frequently, communication with other patients of vascular malformation also has a positive effect on psychological discomfort and can thereby contribute to an exchange of information that can be helpful in the daily life of the affected person.
