Management Conference

1
Management Conference

• Young woman with several episodes of hematemesis
• Raika Jamali MD
• Digestive Disease Research Center
• Tehran University of Medical Sciences

2

• 19 year old girl with hematemesis admitted for
  evaluation of UGI bleeding.
• There were Hx of hematemesis 2 months ago and
  also 1 year ago with several episodes in early
  childhood( 2 years old).
• There was no history of epistaxies, hematuria and
  siezure.

3

• The endoscopic diagnosis was vascular
  malformation( hemangioma?) in distal esophagus .
• Although the recent endoscopy in our hospital
  showed 2 rows of G1 and 2 rows of G2 distal
  esophageal varices and also gastric fundal
  varices with snake skin appearance.

4
Physical examination

• There was orthostatic hypotension and tachycardia
  on admission.
• There were cutaneus hemangiomas on right side of
  the face and also on the dorsum of the right leg
  thigh.
• The conjunctiva was anemic.
• Heart lung were NL.
• The abdomen was normal. No collateral in
  abdominal inspection.
• No hepatosplenomegaly. No shifting dullness.

5
LAB DATA

• WBC8700
• DIFFNL
• RBC3640000
• Hb9.7
• MCV78
• MCHC26
• PLT293000

6

• AST12
  BUN20
• ALT14
  Cr0.7
• ALP130
  Na141
• BILI TOTAL3.2 K4
• BILI DIRECT0.6 FBS90
• PT12.6 (INR1.1)
• PTT26
• SERUM ALBUMIN4.6
• SERUM PROTEIN5.8
• SERUM IRON58
• TIBC380

7

• HBs Agnegative
• HBs Abnegative
• HBc Agnegative
• HCV Abnegative

8
ABDOMINAL SONOGRAPHY

• Liver had normal echotexture and span.
• Portal vein9 mm
• Spleen, biliary tree, gall bladder were NL.
• No ascitis.

9
COLER DOPLER SONOGRAPHY

• Hepatic veins( right, left and middle) were
  patent with normal flow.
• Portal and splenic veins were patient with
  hepatopethal flow.
• There was no sign of collateral formation.

10
Abdominal CT Angiography

• Liver, spleen, stomach, biliary system, and gall
  bladder were NL.
• No ascitis
• Hepatic veins, portal and splenic veins were NL.
• There was no collateral formation.
• Arterial system were NL.

11
Endosonography

• There was varices in distal Esophagus, stomach
  duodenum were NL.

12
Colonoscopy

• Anus, rectum, sigmoid, descending, transverse
  ,ascending and cecum were NL.

13
Dermatology consult

• The patient is a case of Nevic Port Wine
  syndrome, segmental sub type.
• This syndrome is associated with multiple nevics
  as hemangiomas varices in visceral organs like,
  meningium, eye and GI tract.

14
Ophthalmologic consult

• The anterior chamber, viterous and retina was
  normal.
• There was no hemangioma.
• Neurologic consult
• The neurologic exam was normal .

15
UGI Endoscopy
16
Date1385/6/11

• EsophagusCrico-pharyngeus ,  upper third
  and  middle third were normal. 2 rows of Grade 1
  and 2 rows of Grade 2 varices with red sign were
  found in  lower third. __________________________
  __StomachAntrum and  pre-pyloric area were
  normal. Snake skin appearance was seen in  fundus
  and  body. Stomach varices were observed
  in  fundus and without stigmata of bleeding.
  ____________________________DuodenumBulb
  and  2nd part were normal.
• RecommendationE.V.L.

17
Date1385/8/29

• Esophagus2 rows of Grade 1 and 1 row of Grade
  2 scleorosed varices (1 mm wide) , without
  bleeding were found in  lower third.
  ____________________________StomachSnake skin
  appearance was seen in  body. Stomach varices
  were observed in  fundus. _______________________
  _____DuodenumBulb and  2nd part were normal.

18
Port wine stain or nevus flammeus

• The port wine stain is a cavernous hemangioma
  consisting of dilated blood vessels.
• It is associated with the Sturge-Weber syndrome.
• This lesion is congenital and usually covers the
  eye and nearby facial skin, typically in the
  distribution of a branch of the trigeminal nerve
  .

19

• It does not blanch with pressure.
• It may be associated with ocular and
  leptomeningeal vascular hamartomas as well as
  glaucoma and retinal detachment.
• Argon laser therapy has been somewhat successful
  at removing these lesions .

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21
Sturge-Weber syndrome

• rare congenital vascular disorder
• affects capillary size blood vessels.
• It is not a heritable disorder.
• recurrence is unlikely.
• somatic mutations in fetal ectodermal tissues
  that cause inappropriate control or maturation of
  capillary blood vessel formation.

22
CLINICAL FEATURES

• characterized by a facial angioma (port-wine
  stain)
• leptomeningeal angioma .
• Ocular
• and neurologic abnormalities.

23
Cutaneous manifestations

• port-wine stain is the most common type of
  vascular malformation, occurring in 0.3 percent
  of newborn infants. However, only a small
  proportion of children with port-wine stains have
  SWS.
• In SWS, the port-wine stain typically is present
  on the forehead and upper eyelid, primarily in
  the distribution of the first or second division
  of the trigeminal nerve .

24

• The distribution of the cutaneous angioma
  influences the risk of an associated
  leptomeningeal angioma.
• Leptomeningeal angioma occurs in approximately 90
  percent of cases when the port-wine stain
  involves both the upper and lower eyelids,
  compared to 10 percent when only one eyelid is
  affected.

25

• The skin lesion usually is obvious at birth.
  However, its appearance changes with age and its
  size increases as the patient grows.
• In the newborn, the lesion is flat and usually
  light pink in color.
• It typically darkens with age to a deep red,
  port-wine appearance, and vascular ectasias
  develop .

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• The vascular ectasias produce nodularity and
  superficial blebbing, which lead to overgrowth of
  the underlying soft tissues and sometimes the
  bone.

28

• Vascular lesions
• and
• congenital nevi

29
VASCULAR LESIONS

• There are two general categories of vascular
  lesions
• 1) benign vascular neoplasms
• 2)vascular malformations.
• Benign vascular neoplasms, such as hemangiomas,
  are characterized by proliferation of endothelial
  cells, while vascular malformations have normal
  endothelial turnover.

30
Hemangiomas

• Hemangiomas, which are also called infantile
  hemangiomas are the most common benign tumors of
  infancy.
• They occur in up to 10 percent of infants,
  generally within the first few weeks of life.

31
Vascular malformations

• Vascular malformations are anomalies of
  morphogenesis and are always congenital.
• Unlike neoplasms, endothelial turnover is
  normal.
• They are categorized as capillary, venous,
  arterial, lymphatic, or combined groups .
• or as low-flow (capillary, venous, lymphatic, or
  combination) and high-flow (arterial,
  arteriovenous) lesions.

32

• Vascular malformations are always present at
  birth but often are clinically subtle.
• They become more apparent over time as they
  slowly expand in proportion to the infant's
  overall growth.
• There is progressive ectasia secondary to changes
  in blood or lymphatic flow, pressure associated
  with trauma, or hormonal changes such as at
  puberty.

33
Port wine stains

• Port wine stains (PWS), which are capillary
  malformations,
• are uncommon (0.1 to 0.3 percent of newborns)
• low flow malformations that can occur anywhere on
  the body

34

• The lesions are pink or red patches that are
  unilateral in 85 percent of cases .
• They enlarge proportionally to the child's
  growth and persist in approximately 40 to 60
  percent of affected patients.
• While most PWS are isolated anomalies, they may
  be associated with developmental defects.

35
Sturge-Weber syndrome

• is a rare congenital but not hereditary vascular
  disorder characterized by a facial capillary
  malformation and an associated leptomeningeal
  vascular malformation. These malformations may be
  associated with specific ocular (predominantly
  glaucoma) and neurologic abnormalities, including
  seizures, hemiparesis, mental retardation, and
  behavior problems.

36
Klippel-Trenaunay syndrome

• is an extensive PWS with underlying venous and/or
  lymphatic malformations involving an extremity.
• Increased angiogenesis is a mechanism for these
  lesions, and mutations in the gene for an
  angiogenic factor (VG5Q) that result in increased
  transcription or activity have been identified in
  some patients with this disorder .
• VG5Q is expressed in blood vessels, is secreted
  during vessel formation, and promotes endothelial
  cell proliferation.

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Hepatic vascular anomalies in infancy a
twenty-seven-year experience.

• SO - J Pediatr 1996 Sep129(3)346-54.

38

• Infantile hemangioma and arteriovenous
  malformation (AVM) of the liver have a similar
  presentation but a different natural history.

39

• Pharmacologic treatment is used for symptomatic
  multiple liver hemangiomas.
• Embolization allows interim control of heart
  failure.
• A decreased mortality rate after interferon
  alfa-2a therapy is encouraging.

40

• We recommend combined embolization and surgical
  resection for hepatic AVM and for solitary
  symptomatic hemangioma, if drug therapy fails.

41
An unusual cause of upper gastrointestinal
haemorrhage

• Gut 200554343

42
Clinical presentation

• A 59 year old man presented with melena.
• He had a history of iron deficiency anaemia for
  the past five years that required oral iron
  supplements intermittently.
• Previous oesophagogastroduodenoscopy and
  colonoscopy were negative.
• Physical examination disclosed bluish vascular
  lesions on the upper trunk and undersurface of
  the tongue .

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44

• The patient underwent capsule endoscopy which
  showed a single active bleeding vascular lesion
  of the small bowel .
• The patient then proceeded to a segmental
  resection of the involved gut.

45
Segmental resection of the involved gut
46

• Histological examination of the removed lesion
  disclosed cavernous haemangiomas compatible with
  blue rubber bleb nevus syndrome (BBRBNS).

47
BRBNS

• is characterised by haemangiomas in the skin,
  gastrointestinal tract, and other viscera.
• The most common mode of presentation of BRBNS is
  gastrointestinal bleeding.

48

• Lesions are most commonly found in the small
  intestine and distal large bowel and are
  typically discrete mucosal nodules with a central
  bluish nipple, although they may be flat,
  macular, or polypoid.
• BRBNS may affect several successive generations
  by autosomal dominant inheritance caused by a
  mutation on chromosome 9p.

49
Association of solitary, segmental hemangiomas of
the skin with visceral hemangiomatosis

• Arch Dermatol. 2004 May140(5)591-6.

50

• Multiple hemangiomas of the skin have
  traditionally been recognized as a clue to
  potential visceral hemangiomas.
• Recently, hemangiomas have been recognized to
  have subcategories, localized and segmental,
  which correlate with risk of complications.

51

• segmental hemangiomas of the skin have a higher
  risk of being life- or function-threatening and
  having associated structural anomalies such as
  those that occur in PHACE (posterior fossa brain
  malformations, hemangiomas, arterial anomalies,
  coarctation of the aorta and cardiac defects, and
  eye abnormalities) syndrome .

52
The most common site of internal organ
involvement was

• liver (20 cases 43),
• gastrointestinal tract (16 34),
• brain (16 34),
• mediastinum (9 19),
• lung (7 15).
• pancreas, spleen, bones, or kidneys(lt6).

53

• Death during infancy, most commonly because of
  gastrointestinal involvement or congestive heart
  failure secondary to liver involvement.

54
ESOPHAGEAL VARICEAL BLEEDING CAUSED BY HYPOPLASIA
OF THE PORTAL VEIN IN A PATIENT WITH THE
KLIPPEL-TRENAUNAY SYNDROME

• American Journal of GastroenterologyVolume 93
  Issue 2 Page 275 - February 1998

55

• The case of a patient affected by
  Klippel-Trenaunay syndrome presenting with
  esophageal variceal bleeding caused by hypoplasia
  of the vena porta is reported.
• Hemostasis was achieved by performing a proximal
  spleno-renal shunt.
• We suggest the likely association of this
  mesodermal development abnormality and vascular
  disorders of the portal vein.

56
 INTRODUCTION

• Klippel-Trenaunay syndrome (KTS) is a rare
  congenital disorder characterized by cutaneous
  hemangiomata, venous abnormalities, and bony and
  soft tissue hypertrophy .
• Malformations of deep veins, including hypoplasia
  of the vena cava, have been reported .
• Gastrointestinal hemorrhage, basically from
  colonic vascular malformations, has been
  described in a few patients with KTS.
• However, no cases of upper gastrointestinal
  bleeding have been reported.

57
CASE REPORT

• A 20-year-old Caucasian man was admitted to our
  unit for two episodes of hematemesis associated
  with tachycardia (108 bpm) and systemic
  hypotension (80/50 mm Hg).
• At the age of 6 years old, he was diagnosed with
  having KTS because of the presence of severe
  diffuse varicose veins in the right thigh and
  multiple perianal and genital vascular ectasia

58

• his physical examination revealed generalized
  pallor.
• Neither hepatosplenomegaly nor cutaneous stigmata
  of chronic liver disease were observed.
• Emergency endoscopic examination revealed the
  presence of three esophageal varices with red
  signs and active bleeding in one of them.

59

• Sonography showed a normal liver and mild
  splenomegaly, with a patent portal vein with a
  diameter of 10 mm with hepatopetal flow.
• Doppler register of the portal vein was reduced
  without echo-graphic signs of thrombosis.
• Angiographic examination revealed a marked
  hypoplasia of the portal vein.

60

• Hemodynamic studies showed a normal wedge hepatic
  venous pressure.
• Diagnosis of prehepatic portal hypertension
  caused by portal vein hypoplasia in a patient
  with KTS was made.
• The patient was discharged asymptomatically under
  treatment with propranolol.

61

• One month later, the patient was readmitted
  because of hematemesis and melena.
• On admission, there were no signs of
  hypovolemia.
• A new endoscopic examination showed a large
  esophageal varix with a fibrin clot as a unique
  source of bleeding.
• Hemostasis was achieved in 24 h with somatostatin
  infusion.
• Then, a proximal spleno-renal shunt was performed
  

62
Vascular lesions of the stomach

• Journal of Gastroenterology and HepatologyVolume
  17 Issue 5 Page 621 - May 2002

63

• angiodysplasia
• telangiectasia

64
Angiodysplasia

• isolated mucosal vascular ectasias
• low-grade obstruction of submucosal veins
  followed by proliferation of dilated and deformed
  superficial vessels and the development of small
  arteriovenous fistulas.

65
Telangiectasia

• lesions that occur in more generalized disorders
  such as hereditary hemorrhagic telangiectasia
  (OslerWeberRendu disease), vasculitis and
  scleroderma.

66
Other vascular lesions

• gastric antral vascular ectasia, hemangiomas,
• angiosarcomas,
• Dieulafoy lesions
• multiple hemangioma syndromes such as the blue
  rubber bleb nevus syndrome.

67

• Angiodysplastic lesions are found in the stomach
  or duodenum in 12 of upper gastrointestinal
  endoscopies.
• account for upper gastrointestinal bleeding in
  14 of patients.
• lesions are
• flat or slightly raised,
• bright red,
• 210 mm
• 'fernlike' margins.

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Angiodysplasia of stomach
69

• the red area appears to be composed of small
  blood vessels while the lesion is surrounded by a
  pale area or halo.

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gastric telangiectasia
71
Endoscopic treatment

• neodynium YAG lasers,
• argon plasma coagulation,
• heater probes,
• band ligation
• injection sclerotherapy.

72
Cavernous transformation of the portal vein
associated to multiorgan developmental
abnormalities

• Volume 24 Issue 1 Page 80 - February 2004

73

• We describe here a case of association of
  prehepatic portal hypertension, due to cavernous
  transformation of the portal vein, with right
  pulmonary hypoplasia, cardiac dextroposition, and
  right renal ectopia.

74

• In the pediatric age group portal vein thrombosis
  is a common cause of prehepatic portal
  hypertension, and is idiopathic in more than half
  of the cases.
• When present in children, cavernous
  transformation of the portal vein is frequently
  associated to congenital anomalies.

75

• Among these abnormalities the most frequent are
  atrial septal defects or malformations of the
  biliary tract or of the inferior vena cava.

76
Gastric hemangioma An unusual cause of upper
gastrointestinal bleed

• Indian journal of gastroenterology
• Year 2004    Volume 23    Issue 3   
  Page 113-114

77

• We report a 36-year-old lady who presented with
  hematemesis.
• Emergency endoscopy showed a polypoidal lesion in
  the gastric fundus that appeared like a varix.
• Since histacryl glue was not available and an
  attempt at using heater probe proved
  unsuccessful, balloon tamponade using a Linton
  tube was resorted to plan angiography.

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• Celiac angiogram confirmed this to be a
  hemangioma located in the fundus.
• This was managed by arterial embolization.

79
Blue Rubber Bleb Nevus Syndrome A Clinical
Spectrum with Correlation Between Cutaneous and
Gastrointestinal Manifestations

• Journal of Gastroenterology and HepatologyVolume
  18 Issue 8 Page 1000 - August 2003

80

• Blue rubber bleb nevus syndrome characterized by
  distinctive cutaneous and gastrointestinal
  cavernous hemangiomas.
• Patients usually present with iron deficiency
  anemia from occult gastrointestinal bleeding.

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There are three important conclusions that can be
drawn

• First, there appeared to be a correlation between
  the number of cutaneous hemangiomas and visceral
  hemangiomas.

82

• Second, the outcome is poorer for those with
  extensive involvement of the viscera, with more
  extensive resection needed and a high
  re-operation rate for recurrent bleeding.

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• Finally, for patients with limited involvement of
  the gastrointestinal tract, definitive surgery
  can potentially provide long-term remission of
  gastrointestinal bleeding.