1.) Give a general classification and nomenclature to think about when evaluating these patients
2.) Share some helpful tips to narrow the differential in a minute or less of interaction
3.) Discuss some helpful imaging recommendations focusing on ultrasound
Vascular Anomalies
Tumors: Malformations:
Hemangiomas: Low flow: Infantile Hemangioma (IH) Capillary malformation (CM) Rapidly involuting congenital hemangioma (RICH) Non-involuting congenital hemangioma (NICH) Venous malformation (VM)
Kaposiform Hemangioendothelioma Lymphatic malformation (LM) (KHE) High flow: Arteriovenous malformation (AVM) Tufted Angioma (TA)
Combined including syndromic VA. Other rare tumors www.issva.org • 2014 ISSVA classification is now 20 pages long
• The key is that the imaging characteristics have not changed
• Rapidly growing field • Traditionally, options were always the same – Surgery – Do nothing
• With the increase in awareness and research as well as the development of the specialty of vascular anomalies: New Treatment Options Available – Treatment directly linked to diagnosis • Today, we have: – Interventional catheter based therapies – Laser surgery – Ablation technologies: Cryo, RFA, Microwave, etc. – Direct image-guided medications to administer – Infusion medicines – Oral medicines – Surgery- although much less common – Do Nothing- a VERY important alternative
• Survey sample of 100 Referred patients – 47% wrong Dx – 35% wrong Tx • 14% wrong Tx with correct Dx
• VAC – 14% indeterminate or wrong Dx – only 4% leave with no Tx plan
• Important because different diagnosis have different treatments! • How to navigate the EMR – Previous surgery or treatment, biopsy report • Family history • Right protocol was done to answer question • Clinical questions
• Correct diagnosis • Intralesional clotting • Angioarchitecture • Anatomic space involvement • Hamartomatous component • Single or multifocal, accurate size • Presence of overgrowth
• “I have some crazy vascular malformation thing I need you to scan, not sure what I am looking at” • Questions: – How long has it been there, since birth? – Anybody in family have similar? – When did it start hurting or was noticed? – Is it growing fast or with patient?
• The glance: – Is there a scar? – Is there skin discoloration? – Is there vesicles? Is there blebs? – Are there hard pebbles? • This is the first fork in the road, very important one
• Four helpful differentiators: – Cystic, solid or bundle of vessels – Skin involvement – When did symptoms start – Growth in proportion or out of proportion to patient growth
Vascular Anomalies Tumors: Malformations: - Cell proliferation - Normal cell turnover - Can spontaneously involute - No spontaneous involution - Small or absent at birth - Usually seen at birth - Rapid growth during infancy - Growth proportional to patient
• Most common vascular tumor
• MASS is NOT present at birth, a pink stain in location of future infantile hemangioma can be
• Many of these will not be imaged
• Proliferation and then involution natural history
PHACES LUMBOSACRAL AND MIDLINE NECK/BACK -35-51% of associated deep involvement -Spinal dysraphism, deep involvement -PELVIS, SACRAL, LUMBAR all discuss dysraphism, anogenital, renal, urologic, arterial and bony anomaly syndromes Post Gad
• Most clinically significant we see are congenital hemangiomas (RICH and NICH), KHE and Verrucous Hemangioma (unclassified)
• Kaposiform Hemangioendothelioma (KHE) clinically significant because of Kasabach-Merritt and Tx.
• Congenital Hemangiomas due to bleeding and Tx. • Maximum growth percentage wise at birth
• RICH rapidly involutes, see auto infarct signs of cystic/necrotic change and calcification, bleeding
• In liver known as Infantile Hemangioendothelioma
• Mild Thrombocytopenia (Not like KHE), Cardiomegaly, Heart Failure
• NICH grows in proportion to patient, superficial always a bleeding risk, arterial tumor
• No medicine works for RICH or NICH, commonly tried
• Surgery with or without embolization standard – With RICH, conservative if possible, less is more
• Be aware of mimickers: Infantile Fibrosarcoma, KHE infancy 1 year 4 years -observe the veins,Ca++
• KHE locally aggressive vascular neoplasm of children
• Kasabach-Merritt phenomenon (KMP)
– up to 71% report to have thrombocytopenia
• High mortality rate : reported at 24 %, better today
• Strong lymphatic component, watch for spread Treatment: – Medical first • mTor inhibitors, namely Sirolimus, now first line, oral • Vincristine has long track record of success also, needs port
– Surgery if resection possible
– There have been reports of spontaneous involution
Behr GG, Johnson CM. Vascular anomalies: hemangiomas and beyond—part 1. Fast-flow lesions. AJR 2013 Feb;200(2):414-22. A B C
• Different Type of Lesion, also called Angiokeratoma – Officially “unclassified” in ISSVA, GLUT-1 positive
• Must clinically suspect to manage properly
• Keratotic, wart-like lesion with red to purple color
• Does not involute, with continue growth • Treatment is surgical or CO2 laser
• Needs biopsy
• No medical therapy successful, many tried
• Is it lymphatic malformation?
• Is it venous malformation?
• Is it arteriovenous malformation?
• Cause painful flares, classified macrocystic and microcystic
• Fluid/fluid levels of hemorrhage, surrounding inflammation of superinfection, size change
• Anatomic location, especially with airway association
• Atypical features: calcification, thick walls, nodules
• Location, location, location
• Outflow size and connection
• Clotting, most common with spongiform “grapes” type
• Classic misses at VAC: Plexiform N., synovial sarcoma
• No mass on imaging despite clinical appearance of mass from edema and eschar
• Associated CM suggest autosomal dominant RASA1
• These classically become more symptomatic with puberty and pregnancy, hormonally responsive – Common teenage presentation
• The clinical key is steal phenomenon, despite increased flow, decreased oxygenation
• Angioarchitecture description key- feeding arteries and draining veins, dominant/codominant
• Treatment includes embolization and surgery, no medical therapy proven successful
- Four clinical stages: 1. Quiescent 2. Expansion – classic at puberty 3. Destruction (ulceration, bleeding and pain) 4. High outflow heart failure (rare)
16 hours of embo before
• Dramatically different management and complications
• Should be taken care of by multidisciplinary team when possible
• Entities include Klippel Trenaunay (KTS), Parkes Weber (PWS), CLOVES, Proteus and many more • Need to know embryonic anatomy – Lateral Marginal, Sciatic, other – Size, course and outflow communication key
• Need to know any macrocystic or focal spongiform VM components and compartments contained
• Pay attention to bladder wall, uterus and colonic wall, invasion can be subtle and hugely important
• Purely high-flow overgrowth, no masses or slow flow component – Familial seen, CM-AVM, RASA1 mutation
• Clinically will look like arterial insufficiency in elderly, AV shunting causes relative distal ischemia
• Typically at angio have AVF’s and AVM’s
• Complex overgrowth syndrome- Congenital Limb Overgrowth, Vascular Malformation, Epidermal Nevus and Spinal Anomalies/Scoliosis
• Significant overlap with KTS- embryonic vein findings most clinically important, can have chest wall and upper extremity
• Second and third ray upper/lower macrodactyly The E in cloves
• Mosaic, progressive and sporadic – Nature of the syndrome is essential diagnostic criteria – Historically, like KTS, most named Proteus not Proteus
• Cerebriform connective tissue nevus is pathognomonic
• Hemihypertrophy, kyphoscoliosis, epidermal nevus, vascular malformations, skeletal deformities including macrodactyly, embryonic veins