Life-threatening hemoptysis: case of Osler–Weber–Rendu Syndrome

Oxford Medical Case Reports, Mar 2018

Hereditary haemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations, some considered to be life-threatening. We present the case of a 53-year-old male who presented with massive haemoptysis. Chest computed tomography scan was remarkable for a large anterior, left lower lobe arteriovenous malformation. The patient underwent a pulmonary angiogram with embolization of a large left lung arteriovenous malformation, which proved to be successful in controlling the bleeding.

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Life-threatening hemoptysis: case of Osler–Weber–Rendu Syndrome

Abstract Hereditary haemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations, some considered to be life-threatening. We present the case of a 53-year-old male who presented with massive haemoptysis. Chest computed tomography scan was remarkable for a large anterior, left lower lobe arteriovenous malformation. The patient underwent a pulmonary angiogram with embolization of a large left lung arteriovenous malformation, which proved to be successful in controlling the bleeding. INTRODUCTION Hereditary hemorrhagic telangiectasia, also known as Osler–Weber–Rendu syndrome, is a rare autosomal dominant vascular disorder that affects ~1 in 5000 individuals [1]. Patients may present with a wide spectrum of clinical manifestations, some considered to be life-threatening [2]. The most common presentation is epistaxis, gastrointestinal bleeding, iron deficiency anemia and mucocutaneous telangiectasia [2]. In most cases, arteriovenous malformations are usually asymptomatic, however, on certain occasions a wide range of complications including high-output heart failure, portal hypertension, liver failure, hemoptysis, polycythemia, cerebral abscess and stroke may occur [3]. Patients with pulmonary arteriovenous malformation may also present with dyspnea, cyanosis and massive hemoptysis. CASE REPORT This is the case of a 53-year-old non-smoking male with history of anemia, blood transfusions and recurrent episodes of epistaxis who was presented to the emergency room with cough of ~2 weeks. Cough was mostly dry initially then became productive with evidence of blood in the sputum, to the amount of three cups daily. Other symptoms were minimal dyspnea and generalized weakness. The patient was born in the Caribbean, denied recent travel, exposure to sick contacts, weight loss and night sweats. Furthermore, a recent PPD was negative. He had neither previous episodes of hemoptysis nor any family history of hematologic or cutaneous problems. On physical examination, the patient was coughing up fresh bright red blood. Additionally, mucocutaneous telangiectasias were identified on the lips and tongue (Fig. 1). Lungs were essentially clear to auscultation. Hemoglobin was 5.4 g/dl, MCV of 69 fl, MCH of 19.8 pg and platelets level of 304 000. Metabolic and coagulation profiles were grossly unremarkable. Chest computed tomography scan was remarkable for a 2.5 × 3.7 × 4.0 cm smooth oval circumscribed anterior left lower lobe mass associated with bronchovascular structures, suggestive of a large arteriovenous malformation (AVM) (Fig. 2). No evidence of lung parenchymal infiltrates or lesions was identified. Patient was admitted to the intensive care unit for volume resuscitation with blood products. After resuscitation, the patient was transferred to the interventional radiology suite for a pulmonary angiogram with embolization of a large left lung AVM, which proved to be successful in controlling the bleeding (Figs 3–5). After immediate response following the procedure, patient was discharged 3 days later. We followed up the patient up to 3 months and he remained asymptomatic without associated complications or further episodes of hemoptysis. Follow-up brain magnetic resonance imaging, endoscopy and colonoscopy were negative for others AVMs. Figure 1: View largeDownload slide Multiple mucosal hemorrhagic telangiectasias, more prominent on the right lateral aspect of the tongue Figure 1: View largeDownload slide Multiple mucosal hemorrhagic telangiectasias, more prominent on the right lateral aspect of the tongue Figure 2: View largeDownload slide Chest computer tomography shows left lower lung pulmonary AVM (black circle) Figure 2: View largeDownload slide Chest computer tomography shows left lower lung pulmonary AVM (black circle) Figure 3: View largeDownload slide Pre-embolectomy fluoroscopy image showing afferent artery with the presence of aneurysm with feeding effect Figure 3: View largeDownload slide Pre-embolectomy fluoroscopy image showing afferent artery with the presence of aneurysm with feeding effect Figure 4: View largeDownload slide Post-embolectomy fluoroscopy image showing afferent artery without signs of perfusion or feeding Figure 4: View largeDownload slide Post-embolectomy fluoroscopy image showing afferent artery without signs of perfusion or feeding Figure 5: View largeDownload slide Chest computer tomography showing status post-embolectomy of pulmonary AVM (black circle) Figure 5: View largeDownload slide Chest computer tomography showing status post-embolectomy of pulmonary AVM (black circle) DISCUSSION Our patient presented with massive hemoptysis with more than 500 ml of expectorated blood over a 24-h period. Most common causes of hemoptysis were ruled o (...truncated)


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Alicea-Guevara, Ricardo, Cruz Caliz, Michael, Adorno, Jose, Fernandez, Ricardo, Rivera, Kelvin, Gonzalez, Gustavo, Hernandez-Castillo, Ricardo Alan, Fernandez, Rosangela, Castillo Latorre, Christian. Life-threatening hemoptysis: case of Osler–Weber–Rendu Syndrome, Oxford Medical Case Reports, 2018, Volume 2018, Issue 3, DOI: 10.1093/omcr/omx108