BY PROF P. VIJAYARAGAVAN’S UNIT B. ELAVAZHAGAN PG

AN INTERESTING CASE OF ANAEMIA

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: nvbs heard, no added sounds.

P/A: soft, no organomegaly no free fluid.

CNS: no focal neurological deficit.

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 MANIFESTATIONS IN LUNG: 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)