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Vascular malformation

OVERVIEW

What are vascular malformations?

Vascular malformations are congenital vascular disorders, usually present at birth, with diverse clinical manifestations depending on the specific type and location of the malformation. Some patients may even show no symptoms.

Vascular malformations do not resolve on their own and grow progressively throughout life. They can be treated with surgery or physical therapy, and the prognosis is generally good [1,2].

Are vascular malformations tumors?

No.

Vascular malformations are non-neoplastic developmental abnormalities of blood vessels, characterized only by structural vascular anomalies histologically [1].

How many types of vascular malformations are there?

Based on the involved blood vessel types, they are classified as capillary (venular) malformations, venous malformations, arteriovenous malformations, lymphatic malformations, and mixed malformations (combining more than one type, such as capillary-venous or capillary-lymphatic malformations) [1].

Are vascular malformations hereditary?

Some are.

Conditions like capillary malformation-arteriovenous malformation syndrome, hereditary hemorrhagic telangiectasia, and inherited mucocutaneous venous malformations follow autosomal dominant inheritance and can be passed to offspring [3].

What diseases might vascular malformations be confused with?

Hemangiomas.

Clinically, many physicians refer to both conditions as "hemangiomas." However, although both are congenital vascular disorders with similar presentations, hemangiomas typically appear within the first month of life and regress spontaneously, while vascular malformations persist [1].

Additionally, hemangiomas are more common in females, whereas vascular malformations show no significant gender preference. MRI and pathological examinations can differentiate the two [2].

SYMPTOMS

What are the common manifestations of vascular malformations?

Different types of vascular malformations can exhibit various symptoms [2]:

  1. Capillary malformation: Presents with noticeable cutaneous/mucosal signs, typically appearing as well-defined red macules that are flush with the skin surface. Most do not blanch with pressure, show no skin temperature elevation, and grow proportionally with child development. Some patients may develop small, speckled, star-shaped, linear red lesions, or reticulated (marble-like) dark purple lesions.
  2. Venous malformation: Usually easily identifiable, manifesting as soft, compressible blue masses beneath skin or mucosa, with visible blue/purple lesions on the surface.
  3. Arterial malformation: Disrupts normal function in affected areas. When near the heart, may cause palpitations or cardiac pain; near the lungs, may lead to dyspnea or chest tightness.
  4. Arteriovenous malformation: Presents as red lesions or masses with elevated local temperature (slightly warmer than surrounding normal skin).
  5. Lymphatic malformation: Typically appears as large, translucent, soft subcutaneous masses, most commonly in neck, axilla, or lateral chest wall.
  6. Mixed malformation: Bilateral lymphatic malformations may cause mandibular overgrowth and bucktooth deformity. Orbital lesions can induce eye edema, pain, or strabismus.

CAUSES

Why do vascular malformations occur?

Vascular malformations may be related to abnormalities in pathways regulating embryonic angiogenesis [2,4]:

  1. Drug factors: Improper medication use during pregnancy may lead to abnormal development of fetal organs, tissues, or blood vessels, causing this condition.
  2. Abnormal fetal position or umbilical cord position: May result in fetal hypoxia, preventing the timely closure of the ductus arteriosus and leading to vascular malformations.
  3. Endocrine abnormalities: Excessively high estrogen levels during pregnancy can affect the development of fetal arteries, veins, and the lymphatic system, potentially triggering this condition.
  4. Genetic factors: Certain hereditary vascular malformations have a higher likelihood of occurrence.

DIAGNOSIS

Suspected vascular malformation, what tests are needed?

  1. Physical examination: The doctor will observe the patient's skin for symptoms such as red rashes, blue or purple halos, etc., to make a preliminary judgment.
  2. Imaging tests: Imaging tests such as ultrasound, Doppler ultrasound, and magnetic resonance imaging (MRI) are sufficient to analyze most capillary malformations, venous malformations, and lymphatic malformations. Angiography can clarify the extent of the lesion, vascular course, and internal vascular conditions [2].
  3. Pathological examination: Pathological examination can determine the type of lesion tissue and provide guidance for subsequent diagnosis and treatment [2].

Which department should I visit for vascular malformation?

Cardiology, dermatology, general surgery, oral and maxillofacial surgery, vascular surgery, plastic surgery, etc.

  1. Choose different departments based on symptoms: For symptoms such as chest tightness and palpitations, prioritize cardiology; for symptoms such as red rashes or lumps on the skin, prioritize dermatology.
  2. Depending on the affected area, you may also visit surgical departments such as general surgery, oral and maxillofacial surgery, vascular surgery, or plastic surgery.

TREATMENT

How to Treat Vascular Malformations?

The treatment of vascular malformations primarily aims to alter the condition of the affected blood vessels, thereby improving the patient's quality of life [1-3]:

  1. Medication:
    1. Sirolimus (Rapamycin): Currently the most widely used drug for treating lymphatic malformations, suitable for severe cases. Possible side effects include fever, diarrhea, pain, and nausea. Contraindicated in patients allergic to the drug.
    2. Corticosteroids: Effective for lymphatic-venous malformations but provide only temporary relief.
    3. Sclerotherapy: Used for venous and lymphatic malformations. Substances such as bleomycin (pingyangmycin), OK-432 (picibanil), doxycycline, absolute ethanol, and foam sclerosing agents are injected into the malformed vessels through the skin to effectively block blood flow in the area.
  2. Surgical Treatment: Surgery was previously the primary method, involving the removal of the lesion.
  3. Laser Therapy: Superficial venous malformations on the skin or mucous membranes can be treated with lasers, offering high safety.
  4. Interventional Embolization: Conventional embolic agents can be liquid (e.g., isobutyl cyanoacrylate or Onyx glue) or solid (e.g., gelatin sponge powder and coils). Currently, interventional embolization is mainly used as preoperative preparation.

DIET & LIFESTYLE

None.

PREVENTION

Can Vascular Malformations Be Prevented? How to Prevent Vascular Malformations?

Since the cause of vascular malformations is unclear, there are no specific prevention methods. However, pregnant women can reduce the likelihood of fetal vascular malformations through the following measures:

  1. Maintain a balanced diet during pregnancy, consume plenty of fresh vegetables and fruits, avoid unclean foods, and prevent infections during pregnancy;
  2. Avoid medication use during pregnancy whenever possible. If medication is necessary, take it only under a doctor's supervision;
  3. Engage in gentle exercises such as walking or yoga during pregnancy to prevent excessive weight gain. Avoid cosmetics and cleaning products containing hormones to prevent elevated estrogen levels, which may contribute to the condition;
  4. Attend regular prenatal check-ups to monitor fetal position and umbilical cord placement, preventing abnormalities.