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Vascular Flashcards

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1
Q

PHACES

A

Unknown aetiology, sporadic
F predominance
Birth or few weeks of life

Criteria
IH face/scalp >5cm diameter PLUS 1M
Or if off face then 2M

P - posterior fossa and other brain anomalies - dandy walker malformation, cerebellar hypoplasia

Haemangioma - IH, at least 5cm, predilection V1, commoner left side. Commonly ulcerated, larger inc CNS

Arterial anomalies - hypoplasia, dysplasia, stenosis, occlusion, aberrant course. Persistent carotid vertebrobasilaramastomosis.

Cardiac anomalies - commonest coartation of aorta 67%, aberrant subclavian artery 20%

Eye anomalies - retinal vascular anomalies, optic nerve hypoplasia > cataracts, micropthalmia, sclerocornea

Stern defect/pit/cleft ; supraukbilical raphe

Other - ectopic thyroid, hypopitituitsm

Investigations
Fetal US first trimester may pick up CNS defects 
Opthal 
Derm 
Neuro - US MRI/MRA

Prognosis
Progressive cardiac and neuro sequelae

Ddx - sturge Webber, IH w/o syndrome

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2
Q

LUMBAR

A

Lower body IH, lipoma

Urogenital anomalies

Myopathy - tethered spinal cord, lipomeningocele

Bony defomities- sacral, hip dysplasia, leg length/width dyscrepancy

Anorectal anomalies - imprrforate anus, fistula

Renal - hypoplastic, single, pelvic

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3
Q

SACRAL

A

Spinal dysraphism

Anogenital

Cutaneous anomalies

Renal and urological

Lumbosacral IH

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4
Q

PELVIS

A

Perineal IH

External genitalia, malformations

Lipomyelomeningocele

Vesico renal abnormalities

Imperforate Anus

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5
Q

Approach to investigating infantile haemangioma

A 
Mulitple > 5
- need to check for visceral specifically hepatic hamangiomatosis
FBC, FOBT, urinalysis
Abdo USS +|- CT MRI
CXR, Echo
TFTS

SEGMENTAL
Facial - as per PHACES - opthal, echo, US/MRI MRA

Lower limb - LUMBAR - if under 3/12 US abdo pelvis and spine, if older need MRI.
MDT - urology, neurology, orthopaedics

Sacral - SACRAL
Pelvic - PELVIS

BEARD AREA - laryngoscopy ENT

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6
Q

Blue rubber bleb nevus syndrome

A
  • Sporadic (rare AD). Unknown aetiology.
  • M+F
  • Presents birth/early childhood.

• Skin

  • Multiple VM (soft compressible 0.1-5cm nodules). > May have c ombined lymphatic/venous malformation
  • Trunk and extremities
  • +/- pain +/- hyperhidrosis over lesions.
  • Increase size and number with age

• GIT

  • VM (esp small intenstive)
  • hemorrhage, anaemia
  • Reports of other viscera involvement
  • No prenatal dx
  • FBC
  • FOBT, endoscopy, MRI to map GIT lesions.

Normal life span if bleeding can be controlled. Lesions will persist and may enlarge over time.
Rx
- Skin – CO2, laser lesions, excision (tend to reoccur). Sirolimus under Ix
- GIT – reg screening, correct anaemia (Fe, transfusion), cauterize endoscopy, bowel resection if necessary.

DDx – multiple glomus tumours, maffuci syndrome, diffuse neonatal hemangiomatosis, Fabry disease.

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7
Q

List the imaging you can order for the following

  • CM
  • LM
  • VM
  • AVM
A

CM: +/- US

LM:
US, lymphography
CT + contrast
MRI WITHOUT gadolinum

VM
US, phlebography
CT + contrast; CTA (angiography)
MRI WITH gadolinium

AVM
US
CT + contrast; CT angio
MRI
Arteriography
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8
Q

What extracutaneous features would you investigate in a segmental CM

  • V1 distribution
  • V2 and V3
A

V1 - screen for neuro (MRI) + opthal involvement + soft tissue underneath

V2/V3 - dental/maxillary overgrowth (inc gingival hypertrophy)

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9
Q

What would be the concern and how would you investigate a PWS (CM) with a blue hue

  • On the forehead
  • On the cheek
A

Need to exclude combined CVM (capillary venous malformation)

CT, MRI, MRA

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10
Q

What would you want to rule out and investigate with a neonate with a non segmental red patch on the head and neck

A

Non segmental –> therefore not a CM (PWS)
Need to exclude an QVM (fast flow)

Examine
Warm –> stage 1
Thrill or bruit –> stage 2

Doppler US
CT
MRI, MRA
Angio

If stage 1 or 2 may be able to pre-embolise + EOL

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11
Q

Describe a nevus simplex and natural history

A

This is a type of benign CM (capillary malformation) typically present at birth
Can be on glabella in V shape “angel kiss”
Nape of neck “stork bite”

Can look more erythematous when baby cries

Typically fade 1-3 years

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12
Q

What is cutis marmorata telangiectasia congenita (CMTC)?
How does it present?
What are the concerning features?
Prognosis

A

This is a type of benign capillary malformation that may have extracutaneous features

Presents at birth on one or more extremities +/- trunk
Erythematous/violaceous reticulate vascular pattern
Can ulcerate and scar
Does not resolve with warming unlike physicologic cutis marmorata

Ipsilateral limb hyoplasia
Mental retardation
Glaucoma
Patent ductus arteriosis

May improve over time.

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13
Q

Describe the classification of telangiectasia disorders

A

These are benign capillary malformations

Non syndromic
Generalized hereditary telangiectasia
Essential Telangiectasia

Syndromic
Ataxia telangiectasia
HHT (not these are actually AVMs)

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14
Q

List classification subtypes of Capillary Malformations

A

CMs= PWS
Telangiectasia
Nevus simplex
Cutis marmorata telangiectasia congenita

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15
Q

Describe inheritance, features HHT (Hereditary, hemorrhagic telangiectasia

A

AD
HHT1 - Endoglin - more neuro/pulmonary
HHT2 - ALK1 - more liver

PIG(L)ET
Pulmonary
Intracranial
GIT
Epistaxis
Teles

Epistaxis in childhood
Adolscence develop acral and mucosal teles (actually AVMs)
Can have AVMs in GIT, pulmonary and CNS

Screening

  • Genetics
  • FBC, Fe studies, coags regularly
  • TTE - pulmonary AVMs
  • Scopes/Abdo US
  • MRI brain
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16
Q

Ataxia telangiectasia
Inheritance
Clinical presentation

A

Ataxia TAAILangiectasia

Teles - bulbar> malar then upper body (not mucosal)

Ataxia - progressive neurological involvement - cerebeallar ataxia, impaired intelect
Aged facies

IgA deficiency + recurrent sinopulmonary infections

Lymphoma in kids + Breast ca 5 x risk in carriers.

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17
Q

What is phakomatosis pigmentovascularis

A

CM + pigmented lesion
5 types

  1. CM + epidermal nevus
  2. Phakomatosis cesioflammea CM + mongolian spot (commonest)
  3. CM + Nevus spilus
  4. CM + CALM
  5. Cutis marmorata + melanocytic prolif

Nevus anaemicus commonly assoc

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18
Q

Sturge Webber

  • Inheritance
  • Clinical
  • Ix
A

Sturge Webber syndrome

Sporadic GNAQ mutation

  1. PWS - V1 highest risk opthalmic divison of trigeminal nerve
  2. Soft tissue/skeletal hypertrophy beneath
  3. Leptomeningeal CM –> seizures, intellectual impairement, stroke like symptoms (MRI tram tract calcifications of pia mata)
  4. Ocular - ipsilateral glaucoma

CT + contrast
MRI + gadolinium
EEG
Opthal review

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19
Q

Klippel Trenauny

A

PIK3CA
Sporadic

CM +/- varicose veins +/- lymphatic malformation
Overgrowth of affected limb - PROGRESSIVE

Complications

  • Clot/DVT/PE
  • Bleed
  • Secondary infection
  • Difficulty mobilising

Need aspirin/heparin
Compression/sclero

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20
Q

DCMO = diffuse capillary malformation with overgrowth

A

GNA11

Widespread CM + limb overgrowth

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21
Q

Proteus syndrome

A

Proteus sounds like a greek god acting (AKT1 mutation)

Facies
Bony 
Overgrowth
Lipomas
Lung cysts
Ocular
CM
Cerebriform palms
Subcut massess (probably LM)
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22
Q

CLOVES

A 
PIK3A
Congenital
Lipomatous
Overgrowth
Vascular anomalies = CM
Epidermal nevi
Scoliosis/skeletal abnormalities
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23
Q

CLAPO

A

CM of lower lip
LM tongue/neck
Asymmetry and
Partial overgrowth of face/extremities

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24
Q

Beckwidth Widerman

A

Sporadic KIP2

Heliacl ear pits and lobe creases
WHA - Wilms>hepatoblastoma>adrenal
Hypoglycemia
Large tongue + PWS
Omphalocele
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25
Von Hippel Lindau
``` AD VHL gene Presents 4th decade CM head and neck CNS/retinal haemangioblastomas Cancer - RCC, pheochromoctyoma ```
26
Salient points on history for vascular lesion in child
Present at birth or not? Is it rapidly growing? Is it symptomatic - bleeding, ulcerating? Is there inc warmth, trill, ausculate bruit? Family history?
27
ISSVA classification of vascular birthmarks
Vascular Tumours vs VMs Vascular Tumours Benign - IH, Congenital haemangioma (RICH, NICH, PICH), Tufted angioma, PG, Spindle cell haemangioma Locally aggressive - kaposiform haemangioendothelioma, other ``` VM's Simplex - CM, VM, LM, AVM Combined Of named major vessels Assoc with other anomalies (syndromic) ``` Unclassified (a few others) Angiokeratomas
28
What is commonest soft tissue tumour of infancy?
Hamangioma of infancy
29
Describe clinical features (inc natural history) if VMs
CM - small pink/erythematous patches, grow proportionally with child and can become nodular with age. VM - blue hue, compressible, fills with dependency LM - collections of small vesicles (or large deeper nodule), may have blood-lymph level AVM - fast flow lesions, 4 stages - DED cardiac -Dormant - red warm macule - Exapanion - warm mass + Palpable thrill - Destruction - pain, ulceration +/- bone lysis/fracture -Cardiac decompensation F=M Present at birth Grow with the child; persists life long May worsen with puberty, trauma, pregnancy
30
Describe immunophenotype + histology of VMs
GLUT-1 negative CM: ectatic capillaries VM: LM: distorted interconnected channels AVM: AV fistula inc capillaries
31
Haem complications of VMs
VM & LM - Localised intravasc coagulation --> risk DVT - Occasional DIC Rx - Prevention: Aspirin - Treatment LMWH
32
Mutations underling VMs
Vascular malformations are typically sporadic CMS - GNAQ > GNA11 VM - TEK (50%) > PIK3A (25%) LM - PIK3A
33
Infantile haemangiomas (benign vascular tumours) Clinical features Natural history
Clinical features F 2-5 x inc risk Precursor lesion 50% -red telangiectatic OR blue bruis-like OR anaemic macules Becomes apparent in first few weeks of life 50% Superficial haemangioma: Bright red strawberry like papules/plaques (when proliferatng) 15% Deep: warm, rubbery mass under normal or blue coloured skin Mixed 30% PATTERN - Focal - Segemental (PHACES, LUMBAR, SACRAL) - Multiple/Multifocal (can be assoc with visceral involvement) Natural history variable on subtype 1. Proliferation - most 3/12 (deeper up to 12/12) 2. Stabilization 3. Involution - over 10 yrs (10% per year) 30% 3yr, 50% 5 yr, >90% 9 yr (newer studies report most reach final size by 4yo) (Note IH are different from Congenital haemangiomas which are RICH/NICH)
34
IH | - Histo and immunophenotype
GLUT-1 positive Histo: dense lobular proliferation of endothelial cells forming vessels with small slit lumens. Inc cell turnover markers eg Ki-67
35
T/F | Kasabach Merritt phenomenon occurs in IH
False Tufted angiomas Kaposiform Haemangioendotheliomas
36
Genetics of IH
There are rare familial cases (AD) linked to double hit loss of 5q Germline VEGFR2 or TEM3 Somatic mutation VEGFR2 in some
37
Risk factors for IH
Female Premature or Low birth weight Placental insufficiency - pre eclampsia, placenta privia Chorionic villus sampling
38
T/F | 10% of children have Infantile haemangiomas
F | 4-5%
39
T/F | Most IH will reach full growth by 3 months old
T 80% of infantile haemangiomas reach final size by 3 months Minotrity (usually mixed or deep) grow after 9 M
40
What is IH-MAG
Infantiel haemangiomas with minimal OR arrested growth Reticulate erythema; small red papules at periphery <25% proliferative component Doesnt really grow much more beyond this Favours lower body - can be assoc with LUMBAR or PHACES
41
Danger signs or signs to treat infantile haemangioma
1. Functional impairement - Face - PHACES - Eyelid - Nasal tip - Beard area --> laryngeal - Lower body --> LUMBAR/SACRAL 2. Multiple 3. Ulcerating 4. Large/cosmetic appearance of concern --> reduce risk of scarring/residual fibrofatty change
42
DDx of IH
CM, VM, LM, VLM Congenital haemangioma PG, tufted angioma, kapsoiform haemangioendothelioma Non vasc - congenital fibrosarcoma, neurblastoma, DFSP
43
IH complications
``` Functional Impairement Ulcerating/bleeding Secondary infection Fibrofatty change, Scarring & Disfigurement Psychological sequelae ```
44
T/F | 50% of patient with segemental facial IH have PHACES
F | UP to 30%
45
Risk factors for PHACES
IH >5cm | Fronto-temporal OR mandibular region
46
What is the risk of infantile haemangioma on bear region
Concern is larygneal involvement - Difficulty feeding - Cough,stridor - Airway compromise Represents an emergency
47
Complications associated with multifocal infantile haemangioma
If >5 lesions concern is 1. Visceral involvement esp liver > GIT, pulmonary & other organs 2. Hypothyroidism Ix FBC, Fe studies Screen for bleeding - FOBT, Urinalysis, scopes, abdo/liver US TFTs
48
Investigations to consider for infantile haemangiomas
For the actual lesion - US doppler (slow flow IH) if <4-6 months - MRI Screen for complications: Multiple - FBC, Fe studies - Screen for bleeding - FOBT, urinalysis, scopes, liver US - TFTs Segmental H&N - PHACESS - MRI brain - Cardiac imaging (C in PHACE) - ECG/Echo - Opthal (E in PHACE) Beard area - ENT + larygoscope Segemental lower body/spine - MRI Spine - Renal US, Anogenital imaging
49
List rx options for Infantile Haemangiomas
None However - if functionally imapired, ulcerating/symptomatic, cosmetic conern (large/location) General - dressings Topical Timolol 0.5% gel 1 drop BD> TCS - if early, flat, small Oral Propranolol Vascular laser (early and combined with propranolol) ``` Less common SCS Oral sirolimus Vincristine ACE-i ``` Surgery - if psychosocial effects can be minimised by early surgery -Surgery for residual fibrofatty change Life threatening -Embolise + excise
50
T/F Oral propranolol is a selective B blocker Blocks B1&B2 adrenergic receptors decrease VEGF and bFGF Trgiggers apoptosis, inhibits growht of bessels and constricts existing ones
F - non selective
51
CI to propranolol
Absolute Allergy 2nd or 3rd degree HB History Hypoglycemia Relative - Bradycardic/hypotensive - Airway issues - eg wheeze - Intracranial abnormalities - Other systemic disease
52
List SE of propranolol
``` Acrocyanosis Sleep disturbance Irritability Diarrhoea Low BSL if not fed Decreased HR/BP Bronchospasm ```
53
T/F | Propranolol should be started at 6 months old
F | Early in proliferative phase (several weeks of lfie)
54
What preparation does propranolol come in
5mg/5ml | also 3.75mg/1ml
55
What Ix need to be done before starting propranolol
History (CI) - Allergy, hypoglycemia, hypotension/bradycardia/other cardiac issues, wheezing, intracranial abnormalities Full examination - if suggestion of syndromic component or distribution concerning for complications (eg beard) --> sent to vascular anomalies MDT for Ix If no risk factors; child is >8 weeks and >4kg safe to start in OPD BP, HR BSL - can be done routinely (not in Melbourne) ECG/Echo - only if issues
56
How to dose and monitor propranolol
In healthy child with no CI Propranolol - GIVEN WITH FEEDS: 1mg/kg divided doses for 2 weeks Then increase up to 2mg/kg/d in divided doses (can go up to 3mg/kg) Consider HR/BP at baseline, 1 and 2 hours post first dose Parents - written instructions to w/h if not feeding or unwell - No catch up doses RV monthly whilst on rx adjust dose according to response and childs weight RV patient monthly whilst on therapy until shows signs of involuting. Once involuting - continue on therapy and review every 3 months until involutes compltely.
57
What does a classic congenital haemangioma look like?
Blue nodule | telangiectasia, surrounding pale rim
58
T/F | Propranolol is the treatment of choice for congenital haemangiomas
False - ineffective | Only works for infantile haemangiomas
59
Natural history of congenital haemangiomas
Present and fully developed at birth (Like VMs, unlike IHs) 3 types RICH - rapidly involuting, can ulcerate, scar, transient thrombocytopenia which resolves spont. NICH - non involuting; proportional growht PICH
60
RICH vs NICH ROC
NICH - non involuting - Needs excision RICH - rapidly involuting - OBSERVE - can embolise - can excise - sclero for residual veins.
61
What is kasabach merritt phenomenon and who does it occur in?
Occurs in tufted angiomas and kapsiform haemangioendotheliomas - Present at birth, rapidly growing Life threatening bleeding diathesis due to platelet trapping in the lesion Thrombocytopenia Hemolytic anaemia Consumptive coagulopathy --> risk bleeding. LIFE THREATENING - Vinblastine + Pred OR sirolimus - Aspirin can help platelets/control growht.
62
Fabrys disease
XLR Alpha galactosodase A deficiency/gene Fever Angiokeratoma corpris diffusum, abdo pain Burning peripheral neuropathy of hands, feet Renal failure Young age of death Stroke Cloudy cornea, CVD

SR G (7 decks)

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