Osler–Weber–Rendu syndrome simulating pulmonary metastasis
- 1Department of Clinical Medicine, Federal University of Bahia, Salvador, Brazil
- 2Department of Radiology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
- Correspondence to Professor Edson Marchiori, Department of Radiology, Federal University of Rio de Janeiro, 438 Rua Thomaz Cameron, Valparaiso, Petrópolis, Rio de Janeiro CEP 25685.120, Brazil;
Osler–Weber–Rendu syndrome, also known as hereditary haemorrhagic telangiectasia (HHT), is an autosomal dominant disorder of abnormal blood vessel formation manifesting as telangiectasias and arteriovenous malformations (AVMs). The criteria for the diagnosis of HHT are epistaxis, multiple telangiectasias at mucocutaneous surfaces, AVMs in larger organ systems, and a family history of HHT.1–3 Recurrent epistaxis is the most common presenting complaint.
Cerebral AVMs occur in about 10–20% of patients with HHT, and are associated with high mortality and morbidity due to stroke or brain abscess. MRI is currently the best way to detect these vascular malformations. Gastrointestinal telangiectasia, including angiodysplasia, is a common manifestation of HHT. Recurrent upper or lower gastrointestinal bleeding occurs in approximately 20% of patients with HHT and can be responsible for anaemia. Endoscopy is the gold standard for the diagnosis and treatment of gastroduodenal and colonic telangiectasias.3 ,4
Dyspnea and haemoptysis are the most frequent pulmonary symptoms. Superficial telangiectasias are a common finding on physical examination.1–3 Murmurs or bruits over pulmonary AVM sites are heard in about 46% of patients. Oxygenation is commonly affected in patients with pulmonary AVMs,2 which appear on chest x-rays as solitary or multiple nodules. CT with reconstruction shows one or more enlarged arteries feeding a mass or nodule, and one or more draining veins.1–3 Family members of patients with HHT should be screened routinely for possible pulmonary AVMs, as several authors have noted a high incidence of unsuspected pulmonary and cerebral AVMs in these individuals. The best screening protocol has not been determined to date, but chest radiography is currently the first examination conducted in clinical practice. When chest radiography yields positive findings, a CT angiogram is performed; if angiographic findings are negative, contrast echocardiography is indicated. Additional tests are conducted in selected cases.2
Medical and surgical treatments aim to decrease the amount of haemorrhage and minimise the sequelae of chronic blood loss.1–3 Endovascular embolisation is the current standard treatment for pulmonary AVMs. Current guidelines recommend the treatment of any AVM ≥3 mm in diameter. Early screening and embolisation for pulmonary AVMs in HHT are recommended to prevent haemorrhagic and neurological complications.3 ,5
A 73-year-old man presented to our hospital for investigation of multiple pulmonary nodules observed on a previous chest x-ray. The patient had recurrent episodes of epistaxis. Physical examination revealed telangiectasias on the lower lip (figure 1) and the ventral portion of the right arm. Cardiovascular and pulmonary auscultation findings were normal. The patient had 94% arterial oxygen saturation and 80 mm Hg arterial partial pressure of oxygen in room air. CT showed multiple nodules in both lungs. CT angiography showed that the nodules had an intimate relationship with the pulmonary vessels, with an appearance characteristic of AVMs (figure 2A,B). The association of recurrent epistaxis, telangiectasias, and AVMs allowed a conclusive diagnosis of Osler–Weber–Rendu syndrome. The patient was discharged and did not return as an outpatient.
Contributors JLPeS: responsible for the overall content as guarantor, wrote the manuscript and approved its submission. GZ: planned the work, collection of data; analysis and interpretation of data, read and approves the manuscript. EM: responsible for the overall content as guarantor, wrote the manuscript and approved its submission.
Competing interests None.
Patient consent Obtained.
Ethics approval The approval was waived by the Ethics Committee/Institutional Review Board.
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