Transcript Slide 1

Management Conference
Young woman with
several episodes of
hematemesis
Raika Jamali MD
Digestive Disease Research Center
Tehran University of Medical Sciences
• 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.
• 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.
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.
LAB DATA
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WBC=8700
DIFF=NL
RBC=3640000
Hb=9.7
MCV=78
MCHC=26
PLT=293000
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AST=12
ALT=14
ALP=130
BILI TOTAL=3.2
BILI DIRECT=0.6
PT=12.6 (INR=1.1)
PTT=26
SERUM ALBUMIN=4.6
SERUM PROTEIN=5.8
SERUM IRON=58
TIBC=380
BUN=20
Cr=0.7
Na=141
K=4
FBS=90
• HBs Ag=negative
• HBs Ab=negative
• HBc Ag=negative
• HCV Ab=negative
ABDOMINAL
SONOGRAPHY
• Liver had normal echotexture and span.
• Portal vein=9 mm
• Spleen, biliary tree, gall bladder were
NL.
• No ascitis.
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.
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.
Endosonography
• There was varices in distal Esophagus,
stomach & duodenum were NL.
Colonoscopy
• Anus, rectum, sigmoid, descending,
transverse ,ascending and cecum were
NL.
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.
Ophthalmologic consult
• The anterior chamber, viterous and
retina was normal.
• There was no hemangioma.
Neurologic consult
The neurologic exam was normal .
UGI Endoscopy
Date:1385/6/11
• Esophagus:
Crico-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.
____________________________
Stomach:
Antrum 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.
____________________________
Duodenum:
Bulb and 2nd part were normal.
• Recommendation:E.V.L.
Date:1385/8/29
Esophagus:
2 rows of Grade 1 and 1 row of Grade 2
scleorosed varices (1 mm wide) , without
bleeding were found in lower third.
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Stomach:
Snake skin appearance was seen in body.
Stomach varices were observed in fundus.
____________________________
Duodenum:
Bulb and 2nd part were normal.
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 .
• 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 .
Sturge-Weber syndrome
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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.
CLINICAL FEATURES
• characterized by a facial angioma
(port-wine stain)
• leptomeningeal angioma .
• Ocular
• and neurologic abnormalities.
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 .
• 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 portwine stain involves both the
upper and lower eyelids,
compared to 10 percent when
only one eyelid is affected.
• 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 .
• The vascular ectasias produce
nodularity and superficial
blebbing, which lead to overgrowth
of the underlying soft tissues and
sometimes the bone.
Vascular lesions
and
congenital nevi
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.
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.
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 highflow (arterial, arteriovenous) lesions.
• 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.
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
• 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.
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.
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
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• VG5Q is expressed in blood vessels, is
secreted during vessel formation, and
promotes endothelial cell proliferation.
Hepatic vascular
anomalies in infancy: a
twenty-seven-year
experience.
• SO - J Pediatr 1996 Sep;129(3):346-54.
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Infantile hemangioma and
arteriovenous malformation
(AVM) of the liver have a similar
presentation but a different
natural history.
• 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.
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We recommend combined
embolization and surgical
resection for hepatic AVM and
for solitary symptomatic
hemangioma, if drug therapy
fails.
An unusual cause of
upper gastrointestinal
haemorrhage
Gut 2005;54:343
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.
• 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.
Segmental resection of the
involved gut
• Histological examination of the
removed lesion disclosed
cavernous haemangiomas
compatible with blue rubber
bleb nevus syndrome
(BBRBNS).
BRBNS
• is characterised by haemangiomas in
the skin, gastrointestinal tract, and
other viscera.
• The most common mode of
presentation of BRBNS is
gastrointestinal bleeding.
• 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.
Association of solitary,
segmental hemangiomas of
the skin with visceral
hemangiomatosis
• Arch Dermatol. 2004 May;140(5):591-6.
• 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.
• 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 .
The most common site of
internal organ involvement was:
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liver (20 cases [43%]),
gastrointestinal tract (16 [34%]),
brain (16 [34%]),
mediastinum (9 [19%]),
lung (7 [15%]).
pancreas, spleen, bones, or
kidneys(<6%).
• Death during infancy, most
commonly because of
gastrointestinal involvement or
congestive heart failure
secondary to liver involvement.
ESOPHAGEAL VARICEAL
BLEEDING CAUSED BY
HYPOPLASIA OF THE PORTAL
VEIN IN A PATIENT WITH THE
KLIPPEL-TRENAUNAY
SYNDROME
• American Journal of Gastroenterology
Volume 93 Issue 2 Page 275 - February 1998
• 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.
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.
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
• 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.
• 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.
• 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.
• 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
Vascular lesions of
the stomach
• Journal of Gastroenterology and
Hepatology
Volume 17 Issue 5 Page 621 - May 2002
angiodysplasia
&
telangiectasia
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.
Telangiectasia
• lesions that occur in more
generalized disorders such as
hereditary hemorrhagic
telangiectasia (Osler–Weber–
Rendu disease), vasculitis and
scleroderma.
Other vascular lesions
• gastric antral vascular ectasia,
hemangiomas,
• angiosarcomas,
• Dieulafoy lesions
• multiple hemangioma syndromes such
as the blue rubber bleb nevus
syndrome.
• Angiodysplastic lesions are found in
the stomach or duodenum in 1–2% of
upper gastrointestinal endoscopies.
• account for upper gastrointestinal
bleeding in 1–4% of patients.
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lesions are:
flat or slightly raised,
bright red,
2–10 mm
'fernlike' margins.
Angiodysplasia of stomach
• the red area appears to be
composed of small blood vessels
while the lesion is surrounded by a
pale area or halo.
gastric telangiectasia
Endoscopic treatment
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neodynium YAG lasers,
argon plasma coagulation,
heater probes,
band ligation
injection sclerotherapy.
Cavernous transformation of
the portal vein associated to
multiorgan developmental
abnormalities
• Volume 24 Issue 1 Page 80 - February
2004
• 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.
• 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.
• Among these abnormalities the most
frequent are atrial septal defects or
malformations of the biliary tract or of
the inferior vena cava.
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Gastric hemangioma: An
unusual cause of upper
gastrointestinal bleed
• Indian journal of gastroenterology
• Year : 2004 | Volume : 23 | Issue : 3 | Page : 113114
• 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.
Celiac angiogram confirmed this to be a
hemangioma located in the fundus.
• This was managed by arterial
embolization.
Blue Rubber Bleb Nevus
Syndrome: A Clinical
Spectrum with Correlation
Between Cutaneous and
Gastrointestinal
Manifestations
• Journal of Gastroenterology and Hepatology
Volume 18 Issue 8 Page 1000 - August 2003
• Blue rubber bleb nevus syndrome
characterized by distinctive cutaneous
and gastrointestinal cavernous
hemangiomas.
• Patients usually present with iron
deficiency anemia from occult
gastrointestinal bleeding.
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.
• 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.
• Finally, for patients with limited
involvement of the gastrointestinal
tract, definitive surgery can potentially
provide long-term remission of
gastrointestinal bleeding.