Vascular Malformations

Question 1

When do vascular malformations typically present?

Answer 1

Vascular malformations are present from birth but may not always be noticed.

Question 2

How do vascular malformations grow over time?

Answer 2

Vascular malformations grow with the patient.

Question 3

How do vascular tumors like haemangiomas differ in their clinical presentation?

Answer 3

Vascular tumors, such as haemangiomas, are usually not present at birth, grow rapidly, and benign haemangiomas usually involute spontaneously.

Question 4

What are the special investigations used to diagnose vascular lesions?

Answer 4

Clinical diagnosis may suffice for superficial lesions. Ultrasound and MRI are useful to define anatomy and confirm diagnosis. A biopsy may be necessary if there is concern for a non-benign lesion, but it should be done cautiously due to the risk of bleeding.

Question 5

What is the differential diagnosis for vascular malformations?

Answer 5

The differential includes focal blue discolouration overlying dermoid cysts, other congenital or acquired cystic lesions, and highly vascular soft tissue tumors like fibrosarcomas. Specialist review, imaging, and biopsy are essential for accurate diagnosis, especially in atypical cases.

Question 6

Why is specialist referral often recommended for vascular malformations?

Answer 6

Specialist referral is recommended because of the diagnostic and treatment challenges, depending on the location and nature of the lesion.

Question 7

What is the incidence of infantile haemangiomas?

Answer 7

Infantile haemangiomas are the most common vascular tumor, affecting up to 1% of the population. Prematurity is a risk factor.

Question 8

When do infantile haemangiomas typically present?

Answer 8

Most infantile haemangiomas are cutaneous lesions that present within a few weeks of birth.

Question 9

How do infantile haemangiomas progress over time?

Answer 9

Initially, the growth is rapid, and central ulceration and bleeding may develop. However, after 9 to 18 months, growth slows, and the lesions involute spontaneously over the next few months to years. “70% involute by 7 years, 90% by 9 years.”

Question 10

What may remain at the site of involution of an infantile haemangioma?

Answer 10

A yellowish residual lesion may be visible at the site of involution.

Question 11

How is the diagnosis of infantile haemangiomas typically made?

Answer 11

The classical appearance and history of growth may be enough for diagnosis with clinical experience. However, caution should be exercised with atypical cases, and ultrasound (±MRI) may be required, as well as a possible biopsy

Question 12

When is imaging required for infantile haemangiomas?

Answer 12

Imaging is required for large facial or pelvic lesions to evaluate for possible syndromes like PHACE and PELVIS syndromes.

Question 13

What is the PHACE syndrome?

Answer 13

PHACE syndrome includes posterior fossa brain malformations, haemangiomas, arterial anomalies, coarctation of the aorta, cardiac defects, and eye abnormalities.

Question 14

What is the PELVIS syndrome?

Answer 14

PELVIS syndrome includes perineal haemangioma, external genitalia malformations, lipomeningocele, viscero-renal anomalies, imperforate anus, and skin tags.

Question 15

What tests should be done for multiple (>5) or very large haemangiomas?

Answer 15

Liver ultrasound (for visceral haemangiomatosis), thyroid function tests (for hypothyroidism due to haemangioma-related enzyme production), and platelet count (for thrombocytopenia) should be checked.

Question 16

What complication can large or multiple liver haemangiomas cause?

Answer 16

Large or multiple liver haemangiomas may cause cardiac failure.

Question 17

What syndrome is associated with severe thrombocytopenia in the context of haemangiomas?

Answer 17

Kassabach-Merritt syndrome, which is characterized by consumptive coagulopathy (DIC) and indicates a more aggressive vascular tumor, such as haemangioendothelioma.

Question 18

When is urgent referral needed for haemangiomas?

Answer 18

Urgent referral is needed for lesions that may obstruct the visual axis (causing amblyopia), airway, or if there is ulceration.

Question 19

What is the first-line treatment for haemangiomas since 2010?

Answer 19

Beta-blockers, such as propranolol, became first-line treatment after their discovery in 2010 for treating haemangiomas, especially in children with cardiac lesions.

Question 20

What should be evaluated before using propranolol to treat haemangiomas?

Answer 20

Cardiac disease (examination and ECG) and family history of bronchospasm should be evaluated before starting propranolol therapy.

Question 21

How is propranolol therapy administered for haemangiomas?

Answer 21

Propranolol is typically given at a dose of 1-3 mg/kg/day in three divided doses as tolerated, with monitoring for hypotension, hypoglycemia, and bronchospasm.

Question 22

What should be done if haemangiomas fail to involute after a propranolol trial?

Answer 22

If lesions do not involute, they should be re-assessed as they may be GLUT-1 negative congenital haemangiomas, vascular malformations, or non-benign tumors.

Question 23

What other treatments can be considered for haemangiomas that do not respond to propranolol?

Answer 23

Surgical excision, intralesional bleomycin sclerotherapy, steroids, or vincristine can be considered as second and third-line treatments.

Question 24

When is hepatic artery embolization or ligation used for haemangiomas?

Answer 24

Hepatic artery embolization or ligation may be used for large or multifocal visceral lesions causing cardiac failure, although this is rarely needed with modern propranolol therapy

Question 25

What is the key difference between congenital and infantile haemangiomas?

Answer 25

Congenital haemangiomas are fully formed and present at birth, while infantile haemangiomas develop after birth and typically grow rapidly.

Question 26

What percentage of all haemangiomas are congenital haemangiomas?

Answer 26

Congenital haemangiomas make up about 2% of all haemangiomas.

Question 27

Where are congenital haemangiomas most commonly found?

Answer 27

They are most often found in the head and neck area or on the limbs, but can also occur on the trunk.

Question 28

What is the typical appearance of congenital haemangiomas?

Answer 28

They are blue to purple in color with some red telangiectasias and a surrounding pale area.

Question 29

What are the types of congenital haemangiomas?

Answer 29

The types are: • Non-involuting congenital haemangiomas (NICH), which do not disappear spontaneously. • Rapidly involuting congenital haemangiomas (RICH), which usually disappear before 18 months, leaving only a small yellowish scar. • Partially involuting congenital haemangiomas, which rapidly decrease in size over the first year but leave a main area of the lesion.

Question 30

How is the diagnosis of congenital haemangiomas typically made?

Answer 30

The diagnosis is usually clinical, but a biopsy may be done to confirm if the lesion is GLUT-1 negative, which would mean it would not respond to propranolol.

Question 31

When is surgery needed for congenital haemangiomas?

Answer 31

Surgery may be needed for NICH lesions, usually for cosmetic reasons.

Question 32

Can propranolol be used for congenital haemangiomas?

Answer 32

A therapeutic trial of propranolol may be used in lieu of a biopsy, especially for RICH lesions.

Question 33

How aggressive are malignant vascular tumours?

Answer 33

Malignant vascular tumours vary in aggression, but many have rapid growth and can be fatal if not detected early and excised fully.

Question 34

What should be done if a vascular lesion is atypical?

Answer 34

Early specialist referral for diagnostic imaging and possible incision/excision biopsy should be considered for atypical vascular lesions.

Question 35

Are malignant vascular tumours typically sensitive to chemotherapy or radiotherapy?

Answer 35

No, most malignant vascular tumours are not sensitive to chemotherapy or radiotherapy.

Question 36

How common are malignant vascular tumours?

Answer 36

Malignant vascular tumours are rare, but they require prompt detection and treatment due to their aggressive nature.

Question 37

What is the incidence of vascular malformations?

Answer 37

Vascular malformations occur in approximately 1% of the population.

Question 38

What are the most common types of vascular malformations?

Answer 38

The most common types include capillary lesions (e.g., “stork bite” or naevus flammeus), localized capillary venous malformations, and infiltrating arteriovenous malformations (AVMs).

Question 39

How do vascular malformations typically present?

Answer 39

They usually present as a red or blue/hyperpigmented mark, although swelling and warmth may indicate deeper lesions. Pain and palpable or radiographically visible phleboliths may occur in low-flow lesions.

Question 40

How do high-flow lesions like AVMs present?

Answer 40

AVMs usually present in the second or third decade of life, although they may be present from birth. Symptoms include warmth, pulsatility, and often rapid growth.

Question 41

What diagnostic methods are used for vascular malformations?

Answer 41

Clinical examination combined with ultrasound, MRI, magnetic resonance angiography, and fluoroscopic angiograms helps determine the diagnosis and anatomical extent of the malformation.

Question 42

What might varicosities and gross limb involvement suggest in the context of vascular malformations?

Answer 42

Varicosities and gross limb involvement may suggest an overgrowth syndrome.

Question 43

How are vascular malformations classified?

Answer 43

Vascular malformations are classified into “LOW-FLOW” and “HIGH-FLOW” lesions based on the size and type of vessels involved.

Question 44

What syndromes are associated with vascular malformations?

Answer 44

Vascular malformations can be associated with CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities), Proteus syndrome, and Klippel-Trenaunay syndrome.

Question 45

What imaging should be done for capillary malformations in the midline or ophthalmic distribution?

Answer 45

MR imaging should be performed to exclude intracranial vascular anomalies, especially in conditions like Sturge-Weber syndrome, which is associated with leptomeningeal vascular malformations and subsequent seizures.

Question 46

What might multiple lesions of vascular malformations suggest?

Answer 46

Multiple lesions may indicate an underlying genetic abnormality of blood vessels, predisposing to recurrent lesions throughout the body.

Question 47

How are superficial capillary malformations treated?

Answer 47

Superficial lesions are treated with special laser therapies and covering makeup.

Question 48

What treatments are available for venous malformations?

Answer 48

Sodium tetradecyl sulphate (STS), bleomycin, and angiography-guided obliterative coils for localized lesions. Symptom control with pressure garments may be useful for diffuse lesions. Surgical excision is sometimes possible for localized lesions.

Question 49

How are arteriovenous malformations managed?

Answer 49

Obliteration of the main feeder vessel through endovascular embolization is performed when possible.