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7th > Chapter 147- Vascular malformation II > Flashcards

Chapter 147- Vascular malformation II Flashcards

1
Q

Most common complication of lymphatic anomalies in 20% of cases

A

Infection

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2
Q

Macro cystic LM can be diagnosed in utero as early as the ___ trimester of pregnancy

A

First

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3
Q

Most LMs are diagnosed during ___

A

Infancy, before the age of 2 years

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4
Q

Localized morphogenic errors of lymphatic vessels

A

Lymphatic malformations

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5
Q

Condition wherein lymph fluid accumulates the interstitial tissue

A

Primary lymphedema

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6
Q

Primary lymphedema can be divided into

A 
Congenital (Milroy disease)
Late onset (Meige disease)
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7
Q

It is a combined capillary-venous-lymphatic malformation associated with hypertrophy of the the affected limb

A

Klippel Trenaunay syndrome

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8
Q

It is characterized by geographic widespread CM associated with lymphatic vesicles

A

Klippel-Trenaunay syndrome

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9
Q

Pathognomonic for Klippel Trenaunay syndrome

A

Persistence of embryonic vein located on the lateral side of the thigh

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10
Q

CLOVES is an eponym for

A

Congenital Lipomatous Overgrowth with Vascular malformation, Epidermal nevi, and Skeletal anomalies

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11
Q

It is characterized by progressive asymmetric hypertrophy, multiple truncal lipomatous masses with parasoibal fast flow or slow flow vascular anonalies, epidermal nevus or nevi, acral lesions, and skeletal or spinal anomalies

A

CLOVES syndrome

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12
Q

Rare condition in which LMs can invade several organs such as mediastinum, lungs, pleura, GIT, bones, and soft tissue (pleura effusion, ascites, malabsorption)

A

Generalized Lymphatic Anomaly

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13
Q

Aggressive rare lymphatic disorder characterized by progressive demineralization and destruction of bones, which are replaced by lymphatic vessels and capillaries; characterized by painful pathological fractures

A

Gorham-Stout syndrome or vanishing bone disease

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14
Q

Microcysts <1cm are previously termed as ___; ill-defined and often invade adjacent structures

A

Lymphangioma circumscriptum

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15
Q

Macrocysts >1 cm in diameter are previously termed as ___; soft, well-defined, multilobulated mass

A

Cystic hygroma

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16
Q

Capillary- lymphatic malformation, pink- to - bluish red in color, slightly raised, hyperkeratotic, located on an extremity

A

Angiokeratoma circumscriptum

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17
Q

Circumscribed, dark red, hyperkeratotic plaques on distal extremities

A

Angiokeratoma of Mibelli

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18
Q

Very common hyperkeratotic blue black papules on the scrotum of elderly men

A

Angiokeratoma of Fordyce

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19
Q

Present at birth, with swelling of bilateral dorsum of feet; with family history of lymphedema

A

Milroy disease

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20
Q

Other features associated with congenita lymphedema

A 
(37%) hydrocele
(23%) prominent veins
(14%) upslanting toenails
(10%) papillomatosis
(4%) urethral abnormalities in males
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21
Q

Major complication of Klippel Trenaunay syndrome

A

Cellulitis

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22
Q

Pulmonary embolism can occur in

A 
Klippel Trenaunay syndrome (persistent embryonic vein)
CLOVES syndrome (ectatic thoracic vein)
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23
Q

Visceral LM can cause (2)

A

Protein losing enteropathy

Hypoalbuminemia

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24
Q

Most commonly associated with microcystic LM

A

Facial asymmetry esp. of mandible

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25
Q

Lymphatic malformations (KTS, CLOVES) are caused by mutations in

A

PI3K/AKT/mTor signaling pathway

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26
Q

Milroy disease, as well as sporadic hydrops fetalis and generalized subcutaneous edema, is caused by loss-of-function mutation in

A

VEGFR3

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27
Q

Lymphedema distichiasis is caused loss of function mutation in

A

FOXC2 transcription factor

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28
Q

Lymphedema associated with microcephaly, with or without chorioretinopathy or developmental delay is caused by mutation in

A

KIF11

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29
Q

Hypotrichosis-lymphedema-telangiectasia is AD-AR mutation caused by mutations in

A

SOX18

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30
Q

Emberger syndrome is caused by mutations in

A

GATA2

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31
Q

It is an AR disorder characterized by generalized lymphatic dysplasia characterized by intestinal lymphangiectasia with severe and progressive lymphedema of limbs, genitalia, and the face

A

Hennekam syndrome

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32
Q

Hennekam syndrome is caused by mutations in

A

CCBE1

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33
Q

Specific lymphatic markers

A

Podoplanin
D2-40
VEGR3

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34
Q

Histologically

  1. Single or multiple lymphatic cysts surrounded by a thick fibrous membrane that do not communicate with each other
  2. Abnormalities in primary peripheral lymphatic capillaries, collecting lymphatic vessels, or lymphatic valves, and lymphovenous valves
  3. Dilated, flat, endothelium-lined channels of variable wall thickness
  4. No blood cells are seen in these spaces
  5. Extensive fibrosis is often present
A
  1. Macrocystic LM
    2,5. Lymphedema
    3,4. Lymphatic malformations
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35
Q

Best study to show bone involvement

A

CT

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36
Q

For CLOVES, ff up every ___ is warranted due to progressive overgrowth during infancy

A

6 months

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37
Q

In contrast to VM, LM are

A

Noncompressible

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38
Q

In cases of vulvar involvement, it is important to rule out acquired lymphangiectasia caused by

A

Radiotherapy

Crohn disease

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39
Q

Most likely DDx of lymphatic malformation

A

Infantile hemangioma

40
Q

Regression is commonly seen post ___ due to ____

A

Infection; postinflammatory autosclerosis

41
Q

Gorham-Stout syndrome is lethal in ___%

A

16

42
Q

Patients with KTS or CLOVES need preTx of ___ before any surgery and continued ___ postop to reduce risk of pulmonary embolism

A

LMWH of 100 anti-Xa/kg/day; 10-30 days

43
Q

For extensive LMs resistant to standard treatment

A

Rapamycin

44
Q

Lymphedema is best treated with (3)

A

Elastic stockings
Massage
Pneumatic compression devices

45
Q

Treat dermal LMs with oozing

A

NdYAG laser or carbon dioxide laser photocoagulation

46
Q

Examples of sclerosing agents

A 
STS
Pure ethanol
OK432 (streptococcus pyogenes: picbanil)
Doxycycline
Bleomycin
47
Q

Extract from a killed strain of Streptococcus pyogenes

A

OK432

48
Q

Congenital, fast flow malformations that can be occult until puberty

A

Arteriovemous malformation

49
Q

Most severe and devastating malformation that is difficult to treat

A

AV malformation

AV fistula

50
Q

It is characterized by the presence of a nidus, epicenter of a lesion composed of direct communications between multiple feeding arteries and draining veins

A

AV malformation

51
Q

Autosomal dominant disorder with spontaneous recurrent epistasis, telangiectasia, hepatic or pulmonary AVMs

A

Hereditary Hemorrhagic Telangiectasia

52
Q

Hereditary Hemorrhagic Telangiectasia has the Curacao triad:

A
  1. Multiple cutaneous and mucosal telangiectases, often on the mucosal lip
  2. Epistaxis
  3. Positive family history
53
Q

In ___% of HHT, they present with spontaneous recurrent epistaxis

A

90%

54
Q

In 30% of HHTs, they present with ___

A

Hepatic, pulmonary, cerebral AVM

55
Q

Initial manifestation of HHT

A

Recurrent epistaxis

56
Q

Patients are at higher risk for stroke and brain abscess due to normal filtering function of lung is lost

A

HHT

57
Q

The prevalence of brain AVM is ___ fold higher in patients with HHT1; and ___fold in patients with HHT2

A

1000

100

58
Q

HHT is caused by alterations in ___ signaling pathway

A

TGFB

59
Q

Genes mutated in HHT1; HHT2

A

Endoglin (ENG); Type III TGFB

ACVRL1 (ALK1); Type 1 TGFB

60
Q

Successfully used to reduce the frequency and duration of nosebleeds in HHT

A

Thalidomide

61
Q

It is a sporadic, syndromic AVM located in the centrofavial, hemifacial area with oculo-orbital and cerebral involvement

A

Bonnet-Dechaume-Blanc

Wyburn- Mason

62
Q

Intracerebral AVMs are common with epistaxis, exophthalmos, hemianopia, and mental retardation

A

Bonnet-Dechaume- Blanc

Wyburn- Mason

63
Q

Sporadic, syndromic AVM that associates cutaneous and spinal cord AVMs of the same metamere

A

Cobb syndrome

64
Q

It manifests in childhood with sudden onset of back or lower extremity pain associated with sensory disturbance

A

Cobb syndrome

65
Q

It is a large, congenital, cutaneous red vascular stain on an extremity in association with soft tissue and skeletal hypertrophy of the affected limb and underlying multiple AV microfistulas

A

Parkes Weber syndrome

66
Q

Treatment to control leg length discrepancy of Parkes Weber syndrome

A

Epiphysiodesis

67
Q

It is an autosomal dominant disorder that includes patients with macrocephaly, penile freckling, multiple developmental venous anonalies in the brain, multifocal fast flow VMs, and increased risk of malignancy

A

Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome

68
Q

Syndromes associated with Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome

A

Bannayan-Riley-Ruvalcaba

Cowden syndrome

69
Q

Cutaneous, faint, red to purple, ill-defined masses with a thrill, a bruit, or a pulsation of increased amplitude

A

AV malformations

70
Q

1/3 of AVMs are present at __; 1/3 at ___; the rest at

A

At birth
At childhood or puberty
In adulthood d/t trauma and hormonal changes

71
Q

70% of AVMs occur in

A

Face

72
Q

Schobinger stage classification:

A

1- red stain with bruit and pulses of increased amplitude
2 - prominent and tortuous veins
3 - darker, painful veins which ulcerate and bleed
4 - cardiac failure

73
Q

In ___% of CM-AVM1, and ___% of CMAVM2, ak intracerebral or intraspinal AVM is present

A

23%

13%

74
Q

Patients with CM-AVM can exhibit intrauterine life threatening intracerebral bleeding due to ___ aneurysmal malformation

A

Vein of Galen

75
Q

Sporadic extracranial AVMs are caused by somatic mutations of

A

MAP2K1 (MEK)

76
Q

Brain AVM is caused by mutaion in

A

KRAS

77
Q

__ determines the extent of AVM and differentiate AVMs from hemagiomas

A

MRI

78
Q

Pathognomonic for AVM

A

Flow voids

79
Q

Dx modality needed to determine nidus before starting any Tx

A

Arteriography

80
Q

Can differentiate between slow flow CM vs fast flow AVM

A

Dopller ultrasonography

81
Q

Mismanagement of AVM can lead to __

A

Amputation

82
Q

Focus of management of AVM

A

Control evolution of malformation rather than cure

83
Q

Synthetic matrix metalloproteinase inhibitor used to treat extensive AVMs with decrease in pain, bruits

A

Marimastat

84
Q

It is used in unresectable stage 3 AVMs

A

Thalidomide

85
Q

Done only in unresectable complicated AVM

A

Superselective embolization

86
Q

AVf is usually the result of

A

Trauma

87
Q

There is no risk of visceral AVM in

A

CM-AVM

88
Q

10-15% of CM-AVM have __ phenotype affecting LE or UE

A

Parkes Weber phenotype

89
Q

Common feature of facial AVM

A

Bony hypertrophy

90
Q

PTEN regulates __ activity

A

PI3K-AKT pathway

91
Q

___ have equatorial feeding arteries and peripheral veins but no true AV shunting

A

Hemangiomas

92
Q

Embolization is only curative for

A

AV fistula

93
Q

Ff up for __ years is mandatory after any Tx of AVM with Doppler or MRI

A

5 years

94
Q

Done in unresectable, complicated AVM

A

Super selective embolization

95
Q

Ligature of __ stimulates recruitment of new feeding arteries and expands the malformation

A

Proximal arteries

7th (23 decks)

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