SESSION TITLE: Miscellaneous Global Case Reports
SESSION TYPE: Global Case Report
PRESENTED ON: Tuesday, October 29, 2013 at 01:30 PM - 02:30 PM
INTRODUCTION: Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), is a rare disorder that affects blood vessels causing a tendency for bleeding ( 1,2 ).We report the case of a patient with small right lower lobe opacity presenting with recurrent hemoptysis and epistaxis .
CASE PRESENTATION: A 50 yrs lady presented with complaints of recurrent episodes of bleeding from nose, sneezing and cough with scanty sputum and streaky hemoptysis .There is no history of hematemesis, malena, bleeding per rectum, hematuria .Patient suffered with recurrent episodes of sneezing & epistaxis since childhood and cough with scanty hemoptysis . No history of pulmonary kochs / hypertension / diabetes / epilepsy . She had h/o hysterectomy 20 yrs back for ? Fibroid uterus .She consulted a pulmonologist in 2000. She was diagnosed as having allergic airway disease & was treated accordingly. ( Anti allergy drugs & bronchodilators )She was also later given Antikochs treatment for 6 months . Epistaxis & hemoptysis persisted inspite of treatment. She consulted another pulmonologist in 2007who treated her with steroids.She finally presented to us in year 2009-2010 with similar presentation. Patient was thoroughly investigated - Immunoglobulin assay -normal, PT, APTT , T3, T4, TSH - normal, Anti TB immunoglobulins - negative, Rheumatoid factor - negative , Blood for LE cells - negative,ANCA - negative.Detailed evaluation with CT THORAX , CT ANGIOGRAPHY , MR ANGIOGRAPHY, upper GI endoscopy confirmed the diagnosis of Osler weber Rendu syndrome with the CT , MRI scans showing the arteriovenous malformations in the right lower lobe of lung which initially presented on chest radiograph as a vague nodular opacity.
DISCUSSION: The patient presented with 4 out of 4 criteria required for diagnosis of HHT i.e 1.Spontaneous recurrent epistaxis 2. Multiple telangiectasias in typical locations ( nose,etc ) 3.Proven visceral AVMs ( GIT, lung )( 3) 4.1st degree family members with HHT ( 2 brothers ) Diagnosis definite - 3/4, Suspected - 2, Unlikely - 1 Patient in view of her mild symptms of epistaxis and hemoptysis for > 10 yrs is being monitored presently on a regular basis and is presently doing well.
CONCLUSIONS: Osler Weber Rendu syndrome is a rare disorder which requires high index of suspicion to be diagnosed , especially in patients presenting with recurrent epistaxis and hemoptysis .
Reference #1: Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. Oct 5 1995;333(14):918-24.
Reference #2: Cottin V, Dupuis-Girod S, Lesca G, Cordier JF. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). Respiration. 2007;74(4):361-78.
Reference #3: Jakobi P, Weiner Z, Best L, Itskovitz-Eldor J. Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations. Obstet Gynecol. May 2001;97(5 Pt 2):813-4.
DISCLOSURE: The following authors have nothing to disclose: Saicharan Bodi, Eswara Prasad Chelluri
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