CASE OF ANAEMIA

Raju niraula pharm d 4th year

HISTORY
55 year old male patient admitted with

complaints of

breathlesness
1 yr duration

easy fatiguability
HOPI:
h/o breathlessness insidious onset,

progressive grade 3, aggravated by exertion

relieved by rest.
h/o palpitation regular, aggravated by
exertion.
h/o easy fatigability.
h/o passing black coloured stools, sticky in
nature, for the past 1 yr on and off.

NO

h/o chest pain

h/o orthopnea, pnd

h/o cough with expectoration

h/o loss of weight, loss of appetite

h/o abdominal pain,distension

h/o jaundice

h/o hematemesis, other bleeding

manifestations

h/o swelling of legs, oliguria

h/o fever with rashes

h/o drug intake

h/o altered sensorium

PAST H/O;

no h/o similar illness in the past.

not a known DM/HT/
ASTHMATIC/EPILEPTIC
no h/o PT in past
no h/o CAD

PERSONAL H/O;

not a known smoker

not o known alcoholic

FAMILY H/O; no similar illness in the family.

TREATMENT H/O; no treatment taken .

GENERAL EXAMINATION;
Conscious
Oriented
Afebrile
pallor present
not icteric
no cyanosis
no clubbing
no pedal edema
no lymph adenopathy
erythematous spots seen over

the tongue and palate

SYSTEMIC EXAMINATION;

CVS:

S1 S2 heard
no murmurs.

RS:

P/A: soft, no organomegaly

no free fluid.

deficit.

CNS:

nvbs heard,
no added sounds.

no focal neurological

PROBLEMS :
1) anaemia
2) gastrointestinal bleeding
3) erythematous spots over the oral

mucosa.

POSSIBILITIES:
? Bleeding disorder.

? Vessel wall disorder.

? Liver disease with portal

hypertension with
coagulopathy.

INVESTIGATIONS;

CBC:

hb-7.0g/dl

pcv- 20%

rbc count- 2 million

tc- 7000

dc- p64% ,l 33% ,e3%

plt- 2 lakhs.

mcv- 78

mch- 24

mchc- 22%
PERIPHERAL SMEAR:

microcytic hypochromic anaemia.

Reticulocytic count: 3.5%

Contd.
RFT: blood sugar-108
urea-20%

creat-0.9%
X RAY chest normal
ECG- wnl
LFT :
t.bilirubin; 1.1

direct;0.2

sgpt; 18%

sgot; 20%

ALK;60

t.protein ; 5.5gms

alb; 3.5gms
URINE bile salts&bile pigments; neg
STOOL occult blood; positive

Contd..

USG abdomen: liver shows normal

homogenous
echotexture, no biliary radicle
dilatation.

COAGULATION PROFILE:

pt- 14sec
INR- 1.0
aptt- 32sec
bt/ct - normal

PROBABLE DIAGNOSIS:

VASCULAR DISORDER
may be due to abnormal vessel
wall with diffuse involvement.

Mge opinion;

UGI endoscopy was done. Multiple dilated

vessels seen.
colonoscopy shows;

multiple dilated
vessels seen over the colonic mucosa,
suggestive of AV malformations.

Advice to take CT abdomen and

angiography.

Dilated vascular structures

seen in liver

CT ANGIOGRAM SHOWS ABNORMAL

VASCULAR STRUCTURES

THE REPORT

FINAL DIAGNOSIS:

HAEMORRHAGIC TELENGIECTASIAS
? HEREDITARY
(POSSIBLE OSLER WEBER RENDU
SYNDROME)

HEREDITARY HAEMORRHAGIC
TELENGIECTASIA[OSLER WEBER RENDU
SYN]
Described by three different persons

named HENRY RENDU, WILLIAM OSLER,

PARKS WEBER.
Hereditary disease, autosomal dominant

pattern.
Presents as mucocutaneous telengiectasias

and AV malformations involving GI tract,

liver, lung, spleen, cns and nasopharynx.

SIGNS AND SYMPTOMS

Spontaneous recurrent epistaxis (mc symptom).
Skin telengiectasias(oral,nasal mucosa,nail

bed,)
AV malformations( liver ,lung,brain,spinal cord)
GI bleeding.
90% of patients manifest by 40 years.

How to diagnose?
CURACAO CRITERIA:

epistaxis- ( spontaneous recurrent nose bleeds).

telangiectasias- (multiple at characteristic sites)

visceral lesions- (av malformations, git

telangiectasias)

family history- (1 st degree relative with HHT)

DEFINITE DIAGNOSIS;

if three or more criteria were met.

POSSIBLE DIAGNOSIS;

if two criteria were met.

PATHOPHYSIOLOGY
Dysregulation of genes involved in

angiogenesis and cytoskeletal integrity

resulting in abnormal vascular architecture at
discrete sites
Genetic mutations that involve in signalling of
TGF b, an important pathway in vascular
formation and repair.
ENDOGLIN(ENG)- HHT 1
ALK-1
HHT-2
RASA 1
HHT-3
SMAD 4
HHT-4

MECHANISM OF TELENGIECTASIAS &

AV MALFORMATIONS

Focal dilatation of post capillary venules

Surrounded by lymphocytic infiltrate

Progressive disappearance of intervening

capillary bed

Dilated arteries directly communicates with

venules.

VISCERAL
IN LUNG:
MANIFESTATIONS

Pulmonary Av malformations,

Commonly involving posterior lung bases,

Causes right to left shunt,
Defective filtration of blood clot and micro

organisms,

Leads to TIA, brain abscess, ischemic stroke,

If >25% shunt may result in cyanosis, clubbing,

polycythemia,

Dyspnea on exertion and pulmonary hypertension.

CNS:

Due to inherent CNS vascular lesions

Secondary to pulmonary AV
malformation
resulting from
paradoxical emboli

Spinal AVM

Migraine, paraparesis, seizures

IN LIVER
AV malformations in liver may be

asymptamatic,
Shunting from hep a to hep vein / portal vein to

hepatic vein,
Due to AV shunting high output cardiac failure

may occur,
Presents with hepatomegaly, portal

hypertension,biliary disease,
Leads to jaundice, liver failure,encephalopathy.

HHT IN PREGNANCY
Most pregnancies proceeded normally.
Except few cases with pulmonary AV

malformations

How to investigate?
Routine investigations: CBC, RFT, LFT, ECG, x ray

chest

Bleeding time, coagulation profile- to rule out

coagulopathy

computed tomogram - to rule out visceral

involvement

Ct angiography - to confirm the abnormal vessels

and mesenteric AVM

Contrast echocardiography-to find out the

pulmonary AVM

Endoscopy- to delineate bowel telangiectasias.

TREATMENT:

NO SPECIFIC TREATMENT
Treat the symptoms accordingly
Severe epistaxis - ablative treatment,

septoplasty
GI bleeding - endoscopic sclerotherapy, surgical

resection
Pulmonary AVM - embolization ,surgical resection
Hepatic AVM - embolization ( to stabilize cardiac

failure and encephalopathy)