How do vascular malformations differ from vascular tumors?
Congenital vascular malformations often only become noticeable later in life, sometimes not until adulthood. Typically, the vascular malformations grow with the body and do not regress spontaneously. Congenital vascular malformations include, among others:
- Absence, reduced or increased formation of individual vessels
- Dilation or narrowing of individual vessels
- Formation of a non-functional vascular network
- Malformation of the vessel wall
- Course and mouth anomalies
- Doubling of vessels
The malformations can affect all vessels. Depending on the vascular system affected, angiodysplasias are divided into the following categories:
- Venous, the most common form of vascular malformation (70 percent)
- Lymphatic (13 percent)
- Capillary (ten percent), also called port-wine stain
- Arteriovenous (seven percent), which refers to pathological short circuits between arteries and veins
There may also be a combination of malformations affecting several types of vessels, for example capillaries and veins (capillary-venous malformation).
A congenital vascular malformation can also be associated with other anomalies. A typical “combined angiodysplasia” is the “capillary-lymphatic-venous malformation”, formerly also known as Klippel-Trénaunay syndrome, which is associated with generally increased growth of the entire affected extremity.
In addition, blood vessels can be malformed in various parts of the body and organs such as the brain, heart, lungs, abdominal organs, muscles and bones.
Congenital vascular tumors – hemangioma is the most common clinical picture
Congenital vascular tumors are benign or malignant overgrowths of blood vessels that are detected early in childhood. The most common type is the benign hemangioma. It usually develops in the first two months of life, but often regresses spontaneously – in contrast to vascular malformations. Locally aggressive and malignant vascular tumors such as angiosarcoma are rarer.
Congenital vascular anomalies – frequency and age
Vascular anomalies are very rare. Congenital vascular malformations can become noticeable at any age, while congenital vascular tumors first manifest themselves in childhood.
Vascular anomalies: genetic disorder as a common cause
In patients with vascular malformations, genetic changes can often be detected in the blood or tissue of the malformation. These changes can be hereditary or occur spontaneously.
Symptoms: congenital vascular anomalies manifest themselves in very different ways
The symptoms and findings of congenital vascular anomalies (malformations and tumors) can vary greatly. Some are present at birth, others first appear in childhood, adolescence or adulthood. Symptoms are often triggered by specific events such as an operation, injury, infection or hormonal changes (e.g. pregnancy).
The symptoms depend on the type and extent of the abnormality, the region of the body affected and the presence of a complication.
The following physical signs indicate a vascular anomaly:
- Reddish or bluish skin discoloration
- Pain
- Swelling
The following complications are typical:
- Coagulation disorders that lead to severe bleeding or blood clots (thrombi). The clot can be carried to the lungs, brain(stroke) or limbs (embolism)
- Asymmetrical growth of individual limbs
- Open skin areas
- Heart failure and cardiac arrhythmia
Diagnosis of vascular anomalies
Vascular anomalies have many different manifestations, which makes diagnosis and treatment difficult. Misdiagnosis and subsequent incorrect treatment are common, and those affected often have a long history of suffering behind them.
There is no single diagnostic test. Diagnosis is based on a combination of medical history, physical examination, laboratory tests and imaging. At the USZ, the latter includes a detailed color-coded duplex sonography and a magnetic resonance angiography:
- Color-coded duplex sonography: Ultrasound examination that can be used to visualize the blood vessels. The condition and course of the vessels and the blood flow are assessed. Based on this information, the vascular anomaly can be categorized more precisely.
- Magnetic resonance imaging (MRI): You receive a contrast agent via a vein (usually a vein in the arm) and images of the vessels and surrounding tissue are taken in the “tube”. MRI/MRA does not use X-rays, but strong magnetic fields that enable precise sectional images to be displayed.
- Computed tomography (CT): You receive a contrast medium through a vein and high-resolution images of the vessels and neighboring structures are taken.
The highly individual and sometimes complex clinical picture is then discussed at the USZ in an interdisciplinary vascular malformation board between specialists from the Clinics of Angiology, Dermatology, Plastic Surgery, Vascular Surgery and Radiology. This enables us to offer holistic diagnostics and therapy at the highest level.
Vascular anomalies: prevention, early detection, prognosis
Congenital vascular anomalies cannot be prevented because they develop in the womb. There are also no specific measures for early detection. The diagnosis and treatment of such vascular diseases is also a major challenge for us. It is important that experts from different disciplines work closely together in diagnosis and treatment.
The prognosis of vascular anomalies depends on the type, localization and extent of the disease.
Vascular anomalies: the treatment is complex
The choice of treatment depends on the type, extent and localization of the vascular anomaly. Doctors from different disciplines should always be involved in the often complex treatment of vascular anomalies. The specialist disciplines involved include angiology, radiology, plastic surgery, vascular surgery, dermatology and, if the brain is involved, neurovascular specialists.
At the USZ, we therefore discuss the diagnostic and therapeutic procedure to be individually determined for patients with vascular anomalies at the “Angiodysplasia Board”. Where possible, patients are invited to these boards and can speak directly with the experts present.
For many patients, we have to carry out several therapy sessions or use a combination of several procedures. This is particularly true in the case of larger vascular anomalies. Often the vascular anomaly cannot be completely removed. The aim is rather to alleviate the symptoms, improve the quality of life and prevent possible damage to the tissue and thus complications. We must always weigh up the benefits and risks of the intervention.
Vascular anomalies: Treatment
In the case of minor findings and complaints, we initially use conservative measures, i.e. measures without surgery. This includes the use of medication such as anticoagulants and immunosuppressants, compression therapy and physiotherapy.