SESSION TITLE: Pulmonary Manifestations of Systemic Disease Case Report Posters
SESSION TYPE: Affiliate Case Report Poster
PRESENTED ON: Tuesday, October 27, 2015 at 01:30 PM - 02:30 PM
INTRODUCTION: Of all the vascular changes caused by hereditary hemorrhagic telangiectasia (HHT), pulmonary arteriovenous malformations (PAVM) are unique due to their association with paradoxical embolic and septic complications.
CASE PRESENTATION: This is a 62-year-old Caucasian female with HHT associated with prothrombin gene mutation complicated by pulmonary embolism s/p IVC filter and renal vein thrombosis. She was placed on lifelong anticoagulation for the last 4 years. However, due to recurrent GI bleedings and transfusion dependent anemia her enoxaparin was stopped recently. On initial presentation with left leg swelling she was diagnosed with acute DVT in the left external iliac vein which was treated with mechanical thrombectomy followed by anticoagulation due to suspicion of vascular compromise. One day later she developed confusion with right side weakness. MRI of the brain showed right MCA and left MCA territory infarcts. After ruling out a patent foramen ovale with a normal TEE, MRI angiography of the chest was performed and showed left lower posterior lobe PAVM. Treatment options to prevent future strokes are being discussed and lifelong anticoagulation will likely be the mainstay of her treatment.
DISCUSSION: Initiating the workup for PAVM in patients with HHT is usually due to paradoxical embolic or septic events. In a series of 126 HHT patients with PAVM published in 2007, the authors identified the PAVM on chest radiograph in 54% of the patients and on the CT scan in all of them. Our patient was not diagnosed with this abnormality untill the MRI angiography of the chest was performed. According to the authors any nodule on CXR in a patient with HHT should be suspected for possible PAVM. Treatment options mentioned in the literature include video-assisted thoracoscopic resection, embolization coils and closure using an Amplatzer device. The combination of HHT and prothrombin gene mutation in this case has added more complexity to this medical dilemma.
CONCLUSIONS: The association between HHT and PVAM is well reported in the literature and yet needs to be emphasized. Screening is highly recommended in order to prevent such patients from disabling or even fetal complications.
Reference #1: Cottin V1et al. Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients. Medicine. 2007 Jan;86(1):1-17.
Reference #2: Begbie ME et al. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J. 2003;79:18-24
DISCLOSURE: The following authors have nothing to disclose: Alaa Abu Sayf
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