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| Discussion |
A 56-year old lady - nondiabetic, nonhypertensive presented with history
of recurrent epistaxis since childhood. A similar history in many family
members was present. Examination revealed multiple telangiectasias over
the skin, lips, tongue and nasal mucosa.
RADIOLOGICAL Examination:
Bilateral internal carotid and vertebral angiograms were performed and these
showed normal intracranial circulation (Fig. 1)
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Fig.
1
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The right external
carotid angiogram showed multiple capillary telangiectasias in the nasal
mucosa, oral cavity and the tip of tongue. The supply to these was from
the internal maxillary artery (Fig.
2)
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Fig.
2
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Fig.
3
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CT pulmonary angiogram
showed a dense, contrast filled structure equal to the density of aorta
in left lower zone (Figs. 4&5)
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Fig.
4
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Fig.
5
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A catheter pulmonary
angiogram done for further evaluation of these lesions showed aneurysms
and A-V fistule involving segmental branches of left descending pulmonary
artery (Fig. 6).
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Fig.
6
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Based on these findings
of capillary telangiectasias, aneurysms in the lung and positive family
history, the diagnosis of "Rendu Osler Weber syndrome" was made.
Bilateral internal maxillary arteries were selectively catheterised with
microcatheter and embolised with polyvinyl alcohol particle150-250microns
with satisfactory postembolisation results (Figs. 7&8).
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Fig.
7
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Fig.
8
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Feeders to the pulmany
AV malformation were embolised using minicoils and the postembolisation
angiogram showed complete thrombosis of feeders with no arterivenous shunting
(Fig. 9).
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Fig.
9
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DISCUSSION:
Rendu Osler Weber syndrome
- also known as hereditary hemorrhagic telangectasias is an autosomal dominant
disease characterised by the triad of capillary telangiectasia, positive
family history & recurrent epistaxis. The prevalence of the disease is 1-2
cases per 100,000 population. The disorder has no sex predilection with
equal severity in both the sexes. The disease is more common in white races.
The basic abnormality is due to mutation in the receptor called protein
endoglin which is involved in transforming growth factor which is responsible
for tissue repair and angiogenesis.
The majority of patients are clinically silent till the third decade. The
most common presentation is recurrent epistaxis, which often develops prior
to the second decade of life.
Pulmonary AVMs may be congenital and therefore, diagnosed within the first
year of life.
Because Osler-Weber-Rendu syndrome is an autosomal dominant disease, a family
history of telangiectasia and recurrent bleeding in other family members
is usually present. Symptoms vary depending on the area of involvement.
The main areas of involvement are the nasal mucosa, skin, the GI tract,
the pulmonary vasculature, and the brain.
Patients are at risk for hemorrhage from multiple sites (especially the
nasal mucosa), pulmonary hemorrhage, high-output cardiac failure, ischemic
stroke, migraines, and paradoxical emboli.
Most patients have a normal life expectancy. Only 10% of patients die from
complications of their disease.
Treatment is aimed at control of the symptomatic lesions by embolisation
or surgery.