Overview
Vascular malformation is a blanket term for abnormal non-cancerous connections of different blood vessels such as arteries, veins, lymphatic system, and capillaries. They are formed during the stage of development inside the womb or may develop soon after birth. It usually affects children and young people and grows in size with age. These can occur anywhere on the skin (superficial) or can be deep inside the body like in the brain or heart.
Depending on their extension in the body, these are divided into:
- Low flow: involving a single type of vessels such as venous, lymphatic, or capillary malformations.
- High flow: involving arterial malformations and arteriovenous malformations.
Associated Anatomy of Vascular Malformations (VMs)
Blood vessels, arteries, veins, lymphatic system
Alternate Name of Vascular Malformations (VMs)
Vascular anomalies
Vascular Malformation Causes
The exact cause behind the development of vascular malformations is unknown. However, certain conditions are known to cause these aberrant connections:
- Genetic mutations: These may occur during errors in the development phase of the embryo.
- Trauma due to any injury to the blood vessels.
- Puberty or pregnancy: Hormonal surge during certain conditions can induce increased blood flow to these poorly developed blood vessels which can make them visible, if not visible earlier.
- Any major surgery can trigger the already existing malformation.
- Infections: Although very rare, some infections can lead to these malformations.
Vascular Malformations Symptoms
Unless triggered due to any injury or action of hormones, they don't produce any symptoms except for cosmetic concerns. Also, the signs and symptoms mostly depend on the location and extent of the lesions. Some common symptoms of vascular malformations include:
- Pink-coloured birthmark-like lesions. Example: port wine stains
- A painful bluish lesion that may or may not be swollen.
- Frequent bruising and bleeding.
- Fluid-filled swellings (microcystic) in case of lymphatic malformations.
- Seizures, headaches, brain damage, paralysis, etc, in case of arteriovenous malformations present in the brain.
- Shortness of breath, blood-tinged vomit if present in lungs.
Vascular Malformations Diagnosis
Vascular malformations closely resemble other vascular anomalies like hemangiomas, cerebral aneurysms (in case of AVM), blue rubber bleb nevus, and hereditary hemorrhagic telangiectasia. However, there are significant differences among all these conditions which can be understood by histological profiling.
Vascular Malformations Tests
Doctors diagnose this condition both clinically and through various tests.
- Magnetic resonance angiography (MRA) scans: These produce better images of abnormal vessels and provide details about structural defects and the speed of blood flow in these connections.
- Direct percutaneous puncture (DPP) or phlebography: This is a standard test to diagnose venous malformations.
- Angiography: It uses a dye that produces a better image of lesions on X-rays.
- Computed tomography angiography (CTA) scans
- Doppler ultrasound: It uses sound waves to detect blood flow in the blood vessels.
Stages of Vascular Malformations
Being a non-cancerous condition, vascular malformations don’t have any stages. However, this condition grows in size with time.
Vascular Malformation Treatment
The treatment of vascular malformation depends on its location and its extension. Some treatment modalities for vascular malformations are:
Laser Therapy
It is preferred for superficial lesions, especially for venous and lymphatic vascular malformations. Laser therapy reduces the discolouration and swelling caused by this condition.
Embolisation
This is a minimally invasive process involving the closure of the abnormal blood vessels with a glue (any liquid sclerosing agent or metallic coil) that blocks the blood flow to these vessels.
Sclerotherapy
This uses ethanol or other sclerosants that clog the malformed vessels by damaging their walls. The collapsed tissue stops the blood flow to these connections and redirects the blood to normal blood vessels. It is done over multiple sittings.
Stereotactic Radiosurgery
Stereotactic Radiosurgery is sometimes considered if other treatment options fail to bring any relief. Surgery can also be used in addition to other treatment options like sclerotherapy and embolisation.
Risk Factors of Vascular Malformations
- Genetic: an inherited abnormality or a syndrome like Klippel Trenaunay syndrome, or Osler-Weber-Rendu syndrome (hereditary hemorrhagic telangiectasia).
- Trauma: any injury during the embryonic stage or after birth that damages the blood vessels.
- Hormones: these can exacerbate the existing vascular lesions later in life.
Complications of Vascular Malformations
Low flow malformations don't pose any threat. But complications from AVMs are usually concerning as they occur deep in the organs like the brain and the lungs. These malformations can have life-threatening complications, like stroke, internal bleeding, seizures, aneurysms, and even paralysis if they are located in the brain and spinal cord.
Vascular Malformations Prevention
There is no possible way to prevent this condition since it develops before birth and sometimes during early childhood. However, early diagnosis and treatment can effectively hamper its progression in later life.
Epidemiology of Vascular Malformations
It is a rare condition affecting less than1% population all over the world. Among all the types, venous malformations are the most common, followed by lymphatic malformations. Venous malformations are commonly found in the head and neck region, and occur in 1 or two people in a population of 10,000. The incidence of AVM is quite uncommon.
Expected Prognosis of Vascular Malformations
The prognosis of this condition depends on the extent of malformations and organs that it affects. Recent advancements in the field of vascular surgery have made the cure possible with lower patient morbidity, especially for venous and lymphatic malformations, if diagnosed early.
Natural Progression of Vascular Malformations
Although these are non-cancerous, these malformations continue to grow as the person ages. Apart from aesthetics, they don't cause any issue to the person if they are superficial. However, if they are found deeply near organs like the lungs or the brain, they can affect the working of these organs.
Pathophysiology of Vascular Malformations
Vascular malformations occur during the process of vascular system development in the embryonic stages of life; a phase technically known as angiogenesis. This process is facilitated by angiogenic factors like VEGFs (vascular endothelial growth factors), FGFs (fibroblast growth factors), etc, in cell division and formation. If any abnormality occurs during this phase, it leads to the formation of abnormal growth of these vascular channels causing vascular malformations.
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