diagnosis of vascular anomalies

1. Diagnosis of Vascular
Anomalies
PRESENTATION DONE BY
DR :MOHAMMED ELSAYED
DR:MAHMOUD SHABAAN

2. Clinical Features
 Diagnosis of vascular anomalies starts with a careful history.
 Vascular anomalies present with a variety of symptoms
including :.
 A mass or effects of that mass on involved structures like the eye ,nose and mouth.
 Effusions if inflamed .
 Bleeding if injured.
 Skin discoloration.

3. Clinical features
Many Factors must be Considered for diagnosis of Vascular
anomalies.
 The age at presentation.
 The rate of growth or factors affecting growth such as trauma or hormonal changes.
 characteristics and location of the lesion.
 The associated clinical or laboratory features .
 The genetic component and the family history.

4. Age at Presentation
 Capillary and lymphatic malformations are typically diagnosed at birth.
 Infantile hemangiomas may be initially inconspicuous but grow rapidly in the first weeks to
months of life.
 Kaposiform hemangioendothelioma is most common in infants and young children, but
presentation can range from in utero to young adulthood .
 Venous and arteriovenous malformations are present at birth but often become more apparent
in late childhood or with puberty.
 Lymphatic malformations are diagnosed at birth but may enlarge in association with trauma,
hemorrhage or infection, or at puberty.

5. Growth
Vascular anomalies are mainly classified into tumors and malformations based on growth.
 Vascular tumors (e.g., hemangiomas, hemangioendotheliomas, angiosarcomas) grow rapidly
due to vascular proliferation. Most are benign, may be locally invasive (kaposiform
hemangioendothelioma), and rare tumors can metastasize (angiosarcoma, epithelioid
hemangioendothelioma).
 Vascular malformations, in contrast, represent developmental anomalies; they are present at
birth and grow in proportion to the child. However, injury, inflammatory stimuli, or hormonal
changes may stimulate growth, and, thus, some malformations may become more apparent in late
childhood or adolescence.

6. Physical Exam Findings and Location
The color of the lesion should be noted;
 Hemangiomas and capillary malformations most commonly appear with a red color .
 Venous malformations may appear bluish if superficial.
 Lymphatic malformations may appear red or bluish if there has been hemorrhage into a macrocyst.

7. Vascular tumors of infancy and
childhood. (A) A 3-month-old girl
with an enlarging IH of the left
cheek first noted at 2 weeks of age.
(B) A 2-week-old boy with a rapidly
involuting CH of the lower extremity
that was fully grown at birth. (C) A
6-year-old boy with a noninvoluting
CH of the shoulder that has not
changed since birth. (D) An 11-
month-old boy with KHE and
significant thrombocytopenia. (E) A
7-month-old boy with a 4-week
history of a bleeding pyogenic
granuloma of the right cheek.

8. Physical Exam Findings
The appearance of the lesion
Lesions can be flat, plaque- or mass-like,
borders that are discrete or infiltrating.
For example:.
 Capillary malformations are flat and well-demarcated.
 vascular tumors tend to be plaque- or mass-like.
 venous malformation tend to be a compressible lesion that fills when in a dependent position.
 The presence of an overlying bruit, thrill or warmth suggests a high-flow component as in an arteriovenous
malformation .
 However, the appearance of a lesion can be affected by its depth or presence of additional vascular
components, and It can change with growth of the lesion or with intralesional hemorrhage or thrombosis.

9. (a) Capillary malformation. (b) Arteriovenous malformation. (c) Infantile
hemangioma. (d) Infantile segmental hemangioma

10. The location of the vascular anomaly
 The location of the vascular anomaly may influence presenting symptoms and provide clues to the
diagnosis as well as trigger a search for associated features or syndromes.
 Infantile hemangiomas are commonly found in the head and neck region or less often the
trunk and limbs .
 Periorbital and orbital hemangiomas in infants may affect development of visual acuity; even if they
only partially obstruct vision , Blockage of the tear duct may also occur.
 PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac
defects and coarctation of the aorta, and eye anomalies) should be considered if any hemangioma
is >5 cm and segmental .
 Capillary malformations involving the face in the distribution of the first branch of the trigeminal
nerve are often associated with leptomeningeal angiomas, choroidal hemangioma, and glaucoma
(Sturge-Weber syndrome) .

11. The location of the vascular anomaly
 Airway obstruction may complicate vascular anomalies in the head and neck region.
 Infantile hemangiomas in the “beard” distribution (preauricular areas, chin,
anterior neck, and lower lip) have a propensity to compress the airway as they
enlarge, or they may be associated with additional subglottic lesions .
 Infantile hemangiomas in the midline lumbosacral region can be associated with
spinal dysraphism .
 Hemangiomas may also be present in viscera, most commonly the liver.
 The presence of multiple (5 or more) cutaneous infantile hemangiomas increases
the likelihood of hepatic involvement .

12. The location of the vascular anomaly
 Large hepatic congenital or multifocal infantile hemangiomas are associated with an increased
risk of high-output cardiac failure .
 Diffuse hepatic infantile hemangioma may cause consumptive hypothyroidism .
 Lymphatic malformations frequently involve the head and neck, including oral structures such
as the tongue, which can also lead to airway obstruction.
 In addition, lymphatic malformations that involve the neck, axillary, or intrathoracic sites may
be associated with pleural effusions.
 Mediastinal involvement is less common in lymphatic malformation, but is the most common
location for kaposiform lymphangiomatosis .

13. Fig. Vascular malformations. (A) A
13-year-old boy with a CM of the
face and neck; note overgrowth of
lower lip. (B) An 18-month-old girl
with a VM of the scalp. (C) An
infant boy with a lymphatic
malformation of the neck and
trunk. (D) A 25-year-old man with
an arteriovenous malformation on
the right side of the face. (E) A 20-
month-old girl with Klippel-
Trénaunay syndrome (capillary
lymphatic venous malformation of
an extremity with overgrowth).

14. The location of the vascular anomaly
 Bony lesions are characteristic of generalized lymphatic anomaly and Gorham-Stout disease.
 Pelvic and lower extremity involvement is common in the mixed capillary lymphaticovenous malformations
of Klippel-Trenaunay syndrome.

15. The location of the vascular anomaly
 Limb overgrowth and megalencephaly may be a complication of multiple vascular malformation syndromes including
 Klippel-Trenaunay syndrome (Fig. 2b);
 Parkes Weber syndrome (Fig. 2c); congenital lipomatous overgrowth, vascular malformations, epidermal nevi,
spinal/skeletal/scoliosis anomalies.
 (CLOVES) (Fig. 2d); fibroadipose overgrowth (FAO); hemihyperplasia-multiple lipomatosis (HHML);
 Proteus syndrome; megalencephaly- capillary malformation (MCAP); and megalencephaly- polymicrogyria- polydactyly-
hydrocephalus (MPPH) .

16. (a) Sturge-Weber. (b) Klippel-Trenaunay syndrome.
(c) Parkes Weber. (d) CLOVES

17. Associated Clinical Laboratory Features
 Coagulopathy and thrombosis are frequent complications in slow-flow vascular
anomalies.
 Kasabach-Merritt syndrome is a life-threatening coagulopathy with severe
thrombocytopenia, hypofibrinogenemia, and elevated D-dimers associated with
kaposiform hemangioendotheliomas or tufted angiomas.
 Venous malformations or mixed malformations with a venous component may
also have localized intralesional coagulopathy with mild to moderate
thrombocytopenia, hypofibrinogenemia, and elevated D-dimers .

18. Associated Clinical Laboratory Features
 Phleboliths, round calcified thrombi, may be noted on imaging and are often
painful.
 Venous thrombosis and pulmonary embolism can occur, especially in Klippel-
Trenaunay and CLOVES syndrome where there may be:.
 Failure of regression of large embryonic veins .
 Abnormal development of the deep venous system of the lower limbs;
valvular defects, phlebectasia, and hypoplasia are frequently present .

19. Associated Clinical Laboratory Features
 Pulmonary hypertension and embolic stroke may occur as a complication of pulmonary
arteriovenous malformations .
 Bleeding can also be associated with vascular lesions, even in the absence of coagulopathy.
 Patients with hereditary hemorrhagic telangiectasia suffer from recurrent severe epistaxis and
can bleed from intestinal telangiectasia as well; iron deficiency should alert the clinician to the
possibility of gastrointestinal hemorrhage.
 Chronic intestinal bleeding and iron deficiency may also complicate blue rubber bleb
syndrome and cutaneovisceral angiomatosis with thrombocytopenia.
 Rectal bleeding, hemorrhoids, and hematuria can be seen in Klippel-Trenaunay syndrome
with pelvic involvement .
 Finally, intraarticular venous malformations can lead to hemarthrosis.

20. Family History
 Genetic mutations have been described in several vascular malformation
syndromes.
 Somatic mutations have been identified in patients with capillary malformations
and segmental overgrowth syndromes, sporadic venous malformations, and
lymphatic malformations.
 Chromosomal translocations have been identified in tumor tissue from patients
with epithelioid and pseudomyogenic hemangioendothelioma.
 Germline inherited mutations are the basis of familial syndromes such as
hereditary hemorrhagic telangiectasia, some lymphedema syndromes,
hereditary venous malformations, capillary -arteriovenous malformation, and
Proteus syndromes.

21. Diagnostic Evaluation
 The diagnosis of a vascular anomaly often depends largely on the clinical history
and exam.
 Blood work, radiographic imaging, and biopsy may, in different situations, help
define the type of vascular anomaly or rule out alternative diagnoses.
 More recently, genetic testing may facilitate diagnosis and counseling.
 A multidisciplinary approach is required, especially for malformations that are
complex or have associated syndromic features.
 Digital photos of the lesions are a helpful addition to the medical record

22. Diagnostic Evaluation
laboratory studies
 a complete blood count and coagulation studies (PT, aPTT, fibrinogen, and D-dimers) are needed.
 this will identify associated complications such as Kasabach-Merritt syndrome or localized intralesiona
coagulopathy.
 Severe thrombocytopenia (platelet counts <50 K) strongly suggests Kasabach-Merritt syndrome,
consistent with the diagnosis of Kaposiform hemangioendothelioma or tufted angioma.
 D-dimers are also frequently elevated in slow-flow lesions with a venous component, but rarely in
pure lymphatic malformations and arteriovenous malformations .

23. Diagnostic Evaluation
laboratory studies
 In infants with liver lesions, the concomitant presence of cutaneous
hemangiomas favors diagnosis of infantile hepatic hemangioma.
 Serum alpha fetoprotein should be obtained in those children in whom
hepatoblastoma is suspected; however, since AFP is elevated at birth, serial
AFPs monitoring the rate of fall with age may be required in order to
interpret the results.
 Thyroid studies (T4, TSH) should be obtained in infants with hepatic
hemangiomas to screen for consumptive hypothyroidism.

24. Diagnostic Evaluation
radiology
 Radiographic imaging is useful for defining the extent of the lesion and to
identify fast flow or slow flow.
 Imaging is also important in the evaluation of complications such as
thrombosis and in the planning of interventional approaches.
 Additional studies may be indicated in vascular lesions with syndromic
associations to identify occult vascular and nonvascular abnormalities.

25. Diagnostic Evaluation
ultrasound
 Ultrasound is a first step in imaging because it does not expose the patient
to radiation and does not require sedation ,also portability and availability.
 Ultrasound is sensitive for identification of cystic or fluid filled spaces and, in
combination with Doppler, can distinguish high- and low-flow lesions as
well as areas of impaired flow due to thrombosis.
 Fast flow is characteristic of arteriovenous malformations and
hemangiomas, whereas slow flow is seen in venous and capillary
malformations.
 In young infants, ultrasound of the spine can detect spinal dysraphism.

26. US findings
Infantile haemangiomas
(in proliferative phase)
Hyperechoic and/or hypoechoic lesions can be
seen.
 A single or a few vessels may be visible at Grey-
scale US that most often correspond to arteries.
 The lesion displays increased colour flow due to
numerous arteries and veins.

27. Ultrasonography
Infantile haemangiomas
Three-month-old girl with
mass located in the frontal
region.
a Grey-scale US shows a
hypervascular small soft-tissue
mass.
b Doppler US shows
Numerous vessels and high
velocity arterial flow with low
resistance.

28. Ultrasonography
Infantile haemangiomas
One-month-old girl with a soft-
tissue mass in her right cheek with
normal overlying skin.
a Grey-scale US shows a
heterogeneous soft tissue mass.
b Doppler US demonstrates
numerous vessels with high flow
velocity with low resistance.

29. Ultrasound findings
Congenital Hemangioma
RICH and NICH share the same imaging findings.
Most of these imaging findings are similar to those of infantile
haemangiomas with some differences like :,
 various-sized vascular aneurysms
 intravascular thrombi (never seen in infantile haemangiomas)
 increased venous component and arteriovenous shunting.

30. Ultrasound findings
Congenital Hemangioma
Nine-year-old boy with a congenital mass of
the forearm.
a US gray scale shows a
heterogeneous echogenic mass
containing phleboliths.
b Colour Doppler performed at the age of
3 years shows numerous arteries and
veins with high flow velocity.
Biopsy confirmed the diagnosis of NICH
with GLUT1 negative

31. Low flow vascular malformations
Venous malformations (VM)
US findings
Venous malformations can be classified in two types: cavitary and dysplastic.
The cavitary Venous malformation is more common.
 Grey-scale US shows a compressible hypoechoic and heterogeneous infiltrative
lesion .
 After applying compression, US shows the movement of blood into the cavities
and phleboliths can be identified .
 Doppler US typically shows no flow or monophasic low-velocity flow.
 Dynamic manoeuvres, such as Valsalva or manual compression, are sometimes
necessary to induce visible Doppler flow.

32. Low flow vascular malformations
Venous malformations (VM)
US findings
 Dysplastic VMs consist of( multiple varicose veins).
 Gray scale us : multiple anechoic tubular, tortuous channels infiltrating the subcutaneous fat,
muscles, tendons or other tissues are observed.
 Doppler us: reveals slow venous flow velocity.

33. Low flow vascular malformations
Venous malformations (VM)
US findings
Three-year-old boy with venous
malformation.
 a ) Grey-scale US shows a
heterogeneous hypoechoic lesion
with internal fluid component.
 b) The lesion was compressible
and after compression, filling of
the cavities was seen.
 c) with a few vessels on colour
Doppler US with slow flow
velocity.

34. Slow flow vascular malformations
lymphatic malformations (VM)
US findings
 Grey-scale US imaging is instrumental in characterizing the type of lymphatic malformation.
 Macrocystic LMs consist of multiloculated cystic lesions.
 Pure microcystic lesions are ill-defined and hyperechoic due to numerous wall interfaces.
 Mixed lesions consist of cystic and solid lesion related to the size of the cyst.
 Colour Doppler reveals vascular channels in the septa, including veins and arteries with slow flow
velocity.

35. ultrasound findings
slow flow vascular malformation
lymphatic malformations (VM)
Two-month-old boy.
US shows a cystic lesion with multiple septa
with
a diagnosis of macrocystic LM

36. ultrasound
High-flow vascular malformations
Arteriovenous malformations (AVM)
.
US findings
 Arteriovenous malformations are poorly defined with no or little tissue mass visible.
 Most of the time, fat tissue can be seen around the AVM.
 The lesion is made of multiple feeding arteries with increased diastolic flow and increased
venous return with systolic/diastolic flow.
 Colour Doppler examination is helpful to delineate the network of the malformation.
 Unlike haemangiomas, there is always arterialisation of all the draining veins (i.e. pulsatile flow)
in AVMs.

37. Ultra sound findings
High-flow vascular malformations
Arteriovenous malformations (AVM)
Male pt with finger AVM.
a Grey-scale US shows
numerous tortuous vessels.
b Doppler US of the pulsatile
soft-tissue mass of the finger
shows only high velocity
arteries with a low resistance
index.
c Doppler US at another level
shows pulsatile venous flow
in a typical AVM

38. Diagnostic Evaluation
Magnetic resonance imaging
 Magnetic resonance imaging provides a cross-sectional overview of the lesion and is the most frequently
used modality in the evaluation of large or complex vascular anomalies.
 Gradient-echo sequence ( GRE) images are used to identify the hemodynamic nature of the condition (high-
vs low-flow lesion).
 Enhancement characteristics can be used to determine the extent of the malformation and to distinguish slow-
flow vascular anomalies
1) lymphatic components (T2-bright, non-enhancing)
2) venous, arterial, or capillary components (enhance with contrast).

39. Coronal contrast-enhanced T1-
weighted image
shows
infantile hemangioma.
A well-rounded homogeneously enhancing
cervical mass
is associated with
high-flow vessels in and around the
mass.
Magnetic resonance imaging
Infantile hemangioma

40. Coronal contrast-enhanced T1-weighted MRI
of an infant's head
Shows
a large facial mass lesion that involves the
skin and that extends into the left orbit.
Small tubular hypo intensities are seen
these are consistent with
flow voids and represent high-flow vessels
in the lesion.
Magnetic resonance imaging
Infantile hemangioma

41. Axial T2-weighted MRI
obtained through the face
shows
an extensive soft-tissue abnormality in the
right facial area
that involves
the adjacent osseous structures and extends
into the oropharyngeal structures;
it results in
significant airway narrowing
Magnetic resonance imaging
Kaposiform hemangioendothelioma (KHE)

42. CE-MRI
venous malformation
Venous
malformation
adjacent to the
left mandible.
Note
the low signal
foci within the
lesion
representing
phleboliths.

43. MRI of Lymphatic Malformation
(cystic Hygroma)
MRI of macrocystic lesions
will show
a non-enhancing, thin
walled, uni- or multi-
loculated cystic lesion with
septal enhancement
Extensive facial
lymphatic
malformation.
In this large lesion there
is risk of airway
compromise (note the
narrowed trachea ‘T’).

44.  Contrast-enhanced MRA has been gaining widespread clinical use.
 The advantage of this technique relative to conventional angiography is that :,
 MRA permits the production of multi angular reprojections
 It uses no ionizing radiation
 Its contrast materials are less toxic than those of other modalities
 However, the technique is not yet standardized, and imaging characteristics are not well documented.
Magnetic resonance angiography (MRA)

45. Arteriovenous malformation (AVM)
shows
a nidus and early draining veins in the
Contrast-enhanced magnetic resonance angiogram
(MRA)

46. Venous malformation (VM)
Contrast-enhanced magnetic resonance angiogram
(MRA) shows both arteries and veins in the upper body.
A small VM is present in the right axillary area,
it consists of a group of small abnormal veins.
Contrast-enhanced magnetic resonance angiogram
(MRA)

47.  Magnetic resonance venography (MRV) is commonly used in patients with
low-flow vascular anomalies to identify those involving the venous system.
 MRV can also be performed with either
 flow-dependent angiographic techniques.
 contrast-enhanced angiographic techniques.
 MRV is commonly used to demonstrate the patency of the deep veins in the extremities before
surgical debulking procedures in patients with Klippel-Trenaunay syndrome (KTS).
Magnetic resonance venography(MRV)

48. Klippel-Trenaunay syndrome (KTS)
Magnetic resonance venogram (MRV) shows a
large marginal vein in the lateral aspect of the
thigh.
Magnetic resonance venogram
(MRV)

49. Lymphoscintigraphy
 Lymphoscintigraphy may be used in the evaluation of lymphedema.
 This involves the injection of Tc99m-labeled antimony sulfur or albumin
distally into the web space between the first and second digit of the
affected area and tracing the flow of the labeled colloid proximally through
the lymphatics .

50. Echocardiogram
 An echocardiogram should be obtained if there is a risk of high-output cardiac
failure, especially in children with large hepatic lesions or with AVMs.

51. CT scanning
 CT can also be used in patients who cannot be sedated for MRI or
in patients in whom MRI is contraindicated (eg, presence of a
pacemaker or aneurysm clip).
 Although CT is not the imaging modality of choice for VMs; however,
phleboliths and osseous changes, in some cases, are best appreciated
on CT scans.

52. CT Scanning
Venous malformation (VM)
Axial CT image of the pelvis
shows
a mass that contains multiple phleboliths.

53. Angiography
 Angiography includes arteriography, venography, and direct intralesional
contrast agent injection.
 Arteriography is the criterion standard for the evaluation of high-flow vascular
anomalies, particularly for AVMs and AVFs.
 Arteriography has no diagnostic value in the assessment of low-flow anomalies.

54. Angiography
 Venography and direct intralesional contrast material injections are
usually performed during an interventional procedure for low-flow
vascular anomalies (particularly VMs) to confirm the diagnosis and
to tailor the procedure (sclerotherapy).
 Occlusive venography can be helpful for a better assessment of the
extent of low-flow vascular anomalies.

55. Angiography
Arteriovenous malformation (AVM).
Pelvic digital subtraction angiogram shows an
extensive AVM in the sidewalls of the pelvis,
with multiple small feeders from both internal
iliac arteries.
NB : The common and external iliac arteries
appear normal.

56. Angiography
Arteriovenous malformation (AVM) Image
obtained in
a slightly delayed phase of the same arterial
injection
shows
a large area of intense contrast material
accumulation (predominantly in the left sidewall
of the pelvis)
and
multiple large draining veins.

57. Biopsy
 Biopsy is not always required to make a diagnosis .
 Biopsy may be contraindicated in
 severe coagulopathy
 some anatomic locations.
 In addition, biopsy of lymphatic rib lesions is discouraged as it can lead to the formation of a
chronic pleural effusion.
 Nevertheless, when the diagnosis is unclear, biopsy can provide useful information.

58. Biopsy
 Immunohistochemical stains can differentiate between different types of vascular anomalies.
 GLUT-1 (glucose transporter protein-1 ) is a specific and sensitive marker expressed along the
endothelium of infantile hemangiomas in the proliferating and involuting phases.
 GLUT-1 is not expressed in other cutaneous vascular anomalies of infancy like congenital
hemangiomas and pyogenic granulomas.
 The transcription factor PROX-1 and/or podoplanin (i.e., D2-40) monoclonal antibody are
reactive in lymphatic malformations and kaposiform hemangioendothelioma and negative in
venous malformations.

59. Biopsy
 Smooth muscle actin highlights glomus cells lining venous channels.
 In addition, tissue can be analyzed for somatic genetic mutations .
 Pleural effusions or ascites should be tapped, which may provide diagnostic
information as well as therapeutic benefit.
 Pleural or ascitic fluid with elevated triglycerides and lymphocytes indicates a
chylous effusion and suggests dysfunction of the central conducting lymphatics.

60. Genetic testing
 Genetic testing is clinically available and facilitate diagnosis.
 Somatic mosaic mutations can be assayed from biopsied tissue, whereas genomic mutations are
typically assayed from peripheral blood leukocytes.
 Clinical testing is currently available for a number of genetic mutations associated with vascular
anomalies including ACVRL1, AKT1, AKT2, AKT3, ENG, GNAQ, GLMN, MTOR, PIK3CA, PIK3R2, PTEN,
RASA1, and SMAD4.
 The field is rapidly changing; current information can be found on the website GeneTests.org.

61. Plain Radiography
 Overall, plain radiographs have limited value in the diagnostic
workup for vascular anomalies.
 However, plain radiographs can demonstrate phleboliths
(characteristic of VMs), and they are helpful in the evaluation of leg-length
discrepancies and/or osseous involvement.