OSLER RENDU WEBER SYNDROME

AIM To 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

HISTORY 55 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 pain On examination, clubbing present

INVESTIGATIONS BLOOD SUGAR & RFT : NORMAL RANGE PLATELET & INR : NORMAL ECHO : NORMAL OGD : ANGIOECTASIA OF STOMACH

PULMONARY AVM

HEPATIC AVM

IMAGING FINDINGS CT 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 CRITERIA EPISTAXIS -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 DIAGNOSIS Ataxia-Telangiectasia CREST Syndrome Dermatologic Manifestations of Dermatomyositis Pediatric Syphilis Rosacea

COMPLICATIONS Brain 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 UP Oximetry : < 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

TREATMENT Embolization or ligation may be used on pulmonary or intrahepatic AVM GI haemorrhage may require resection of affected bowel

CONCLUSION We are now acquainted with the presentation and diagnosis of Osler Rendu Weber Syndrome The presentation is usually in the 4 th decade or so. Hence, Screening of first degree relatives is important as it helps in early detection of disease and helps prevent complications

REFERENCES Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. Mar ;91(1):66-7. [Medline][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): [Medline]. [Medline] Nanda S, Bhatt SP. Hereditary hemorrhagic telangiectasia: epistaxis and hemoptysis. CMAJ. Apr ;180(8):838. [Medline].[Medline]