ABSTRACT ID: IRIA - 1176

OSLER RENDU WEBER SYNDROME

AIMTo diagnose a rare case of OSLER

RENDU WEBER SYNDROME

Screening methods for first degree relatives of patients for early diagnosis and prevention of complications

METHODOLOGY

Patient was investigated using conventional 4 slice helical ct and 64 slice ct angiography

HISTORY55 Yrs old female, with c/o recurrent

episodes of epistaxis since 10 yrs of age Now c/o breathlessness and easy

fatigability for past 1 year , haemoptysis and abdominal painOn examination, clubbing present

INVESTIGATIONS

BLOOD SUGAR & RFT : NORMAL RANGEPLATELET & INR : NORMALECHO : NORMALOGD : ANGIOECTASIA OF STOMACH

PULMONARY AVM

HEPATIC AVM

IMAGING FINDINGSCT PULMONARY ANGIOGRAPHY showed AV malformation in right lower lobe

of lung with right pumonary artery as feeding vessel and draining into the left inferior pulmonary veins

• CT ABDOMEN Intrahepatic AVM in left lobe of liver &

dilated hepatic artery

Osler-Weber-Rendu disease (OWRD) is a rare autosomal dominant disorder

It affects blood vessels throughout the body (causing vascular dysplasia) and results in a tendency for bleeding.

The condition is also known as hereditary hemorrhagic telangiectasia

Symptom onset may be delayed until the fourth decade of life (~90% of patients manifest by age 40 years) or later

CURACAO DIAGNOSTIC CRITERIAEPISTAXIS -spontaneous,recurrent

TELANGIECTASES - multiple sites lips,oralcavity,nose,fingers

VASCULAR MALFORMATIONS pulmonary,hepatic,git,cerebral,spinal

FAMILY HISTORY - first degree relative with Hereditory haemorrhagic telangiectasia

Definite diagnosis; 3 criteria present

Possible diagnosis; 2 criteria present

Unlikely ;less than 2 criteria present

CLINICAL SPECTRUM

Spontaneous, recurrent epistaxis - 90%

Skin telangiectases - 75%

Hepatic or pulmonary involvement (arteriovenous

malformations [AVMs]) - 30%

Gastrointestinal (GI) bleeding - 15%

CNS lesions

DIFFERENTIAL DIAGNOSISAtaxia-Telangiectasia

CREST Syndrome

Dermatologic Manifestations of

Dermatomyositis

Pediatric Syphilis

Rosacea

COMPLICATIONSBrain abscess

Hemorrhagic or ischemic stroke

High-output congestive heart failure

Chronic GI bleeding and anemia

Portal hypertension with esophageal varices

Pulmonary hemorrhage

Liver cirrhosis

SCREENING WORK UPOximetry : < 96% warrants further investigations

Arterial Blood Gas Assessment – screening for pulmonary

AVM

Radiography - reveal a mass of enlarged arteries and

veins typical of pulmonary AVM. Commonly found in the

posterior lung bases

Helical CT

Contrast-enhanced MRI

Doppler ultrasonography of the liver

GI endoscopy

TREATMENTEmbolization or ligation may be used on

pulmonary or intrahepatic AVM

GI haemorrhage may require resection of affected bowel

CONCLUSIONWe are now acquainted with the presentation

and diagnosis of Osler Rendu Weber Syndrome

The presentation is usually in the 4th decade or so.

Hence, Screening of first degree relatives is important as it helps in early detection of disease and helps prevent complications

REFERENCESShovlin CL, Guttmacher AE, Buscarini E, et al.

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. Mar 6 2000;91(1):66-7. [Medline]

Shovlin CL, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax. Aug 1999;54(8):714-29.[Medline]. 

Nanda S, Bhatt SP. Hereditary hemorrhagic telangiectasia: epistaxis and hemoptysis. CMAJ. Apr 14 2009;180(8):838. [Medline].