Abstract
Background: Rendu–Osler–Weber disease (Osler’s disease) is the most common cause of pulmonary arteriovenous fistula. We report a case of pulmonary arteriovenous fistula associated with Osler’s disease that was treated by lobectomy. Case Report: A 44-year-old man with Osler’s disease presented with respiratory distress. Computed tomography showed a pulmonary arteriovenous fistula, which had a 26-mm-long diameter in S6 of the left lung. Transcatheter treatment had a high risk of recurrence, and surgery was indicated. The pulmonary arteriovenous fistula was found at the beginning of A6. A6 and the basilar artery were cut together with a stapler. The postoperative course was uneventful, and respiratory distress symptoms improved with no recurrence. Conclusion: We report a case of pulmonary arteriovenous fistula caused by Osler’s disease treated by lobectomy. Although transcatheter treatment is the mainstream treatment for pulmonary arteriovenous fistulas, surgical resection may be effective depending on the size of the lesion.
- Rendu–Osler–Weber disease
- Osler’s disease
- surgery
- pulmonary arteriovenous fistula
- hereditary hemorrhagic telangiectasia
Rendu–Osler–Weber disease (Osler’s disease), also known as hereditary hemorrhagic telangiectasia, is an inherited disorder that causes abnormal blood vessels throughout the body, and predisposes to nosebleeds and other bleeding symptoms. The frequency of Osler’s disease is estimated to be approximately 10-20 in 100,000 people (1). The mode of inheritance of Osler’s disease is autosomal dominant, and its causative genes are ENG (endocrine), ACVRL1 (ALK1), and SMAD4 (2).
Osler’s disease causes pulmonary arteriovenous fistulas, which are estimated to occur in 15%-30% of patients with Osler’s disease. Osler’s disease is the most common cause of pulmonary arteriovenous fistula, which results in embolism, hypoxemia, and hemoptysis (3). In Japan, 20% of pulmonary arteriovenous fistulas are associated with Osler’s disease, whereas in the United States and Europe, 70% of pulmonary arteriovenous fistulas are associated with Osler’s disease (4). Endovascular treatment is the mainstay of treatment for pulmonary arteriovenous fistulas, but surgery is also indicated when the lesion is located at the margins of the lungs (5). In this report, we describe a case of pulmonary arteriovenous fistula in a patient with Osler’s disease who was successfully treated by lobectomy. We discuss the concept of this disease and the indications for surgical resection of pulmonary arteriovenous fistulas caused by Osler’s disease, with reference to related previous literature.
Case Report
A 44-year-old male patient who had been experiencing recurrent nosebleeds for approximately 2 years was diagnosed with Osler’s disease on the basis of his family history. He had been a smoker until the age of 35 years. He had respiratory distress and was referred to our department, and a chest computed tomography (CT) scan showed pulmonary arteriovenous fistulas. At the time of his initial visit, his performance status was 1 and Hugh–Jones classification was III. The chest CT scan showed pulmonary arteriovenous fistulas, which had a 26-mm-long diameter in the left S6, 7-mm-long diameter in the left S3, and 5-mm-long diameter in the right S9 (Figure 1). Preoperative blood gas analysis showed hypoxemia with a PaO2 of 71.8 mmHg. Early treatment was recommended to prevent intrathoracic hemorrhage due to rupture of the large pulmonary arteriovenous fistula (26 mm) in the left S6 and central nervous system complications (cerebral infarction and brain abscess). After consultation with radiologists, transcatheter treatment was not strongly recommended owing to a high risk of recurrence. After obtaining sufficient informed consent, surgical resection of left lower lobectomy was performed. The open thoracotomy approach was adopted because of the fragility of the pulmonary vessels owing to Osler’s disease. Intraoperatively, the large pulmonary arteriovenous fistula was found around the beginning of A6, and dealing with A6 alone was difficult because of its short neck. A6 and the basilar artery were divided together on the main pulmonary artery with an automatic anastomosis (stapler), taking care to maintain the blood flow into A4+5 (Figure 2A and B). The postoperative course was uneventful, and the patient was discharged on the 10th postoperative day. At an outpatient visit 1 month after surgery, respiratory distress symptoms had improved, and a blood gas test showed that oxygenation had improved with a PaO2 of 86.7 mmHg and no recurrence.
Chest computed tomography scan [(A) mediastinal window, (B) lung window] shows a pulmonary arteriovenous fistula with a 26-mm-long diameter in the left S6.
Intraoperative findings. (A) The planned cut line of the main pulmonary artery (yellow dotted line) is shown. (B) The cut-off edge of A6 and the basilar artery are shown.
Discussion
Osler’s disease is an autosomal dominant genetic disorder that causes systemic vascular abnormalities, resulting in epistaxis and pulmonary arteriovenous fistula. The main symptoms of this disease are dyspnea and cyanosis due to hypoxemia caused by a right–left shunt. As the diameter of the fistula increases, the risk of central nervous system complications (e.g., cerebral infarction, brain abscess, transient ischemic attack, and seizures) becomes higher in addition to the symptoms due to the pulmonary arteriovenous fistula itself, such as rupture, infection, and hypoxemia (6). Pulmonary arteriovenous fistulas with an inflow artery diameter of ≥3 mm and/or a fistula diameter of ≥20 mm require treatment (7).
Regarding the treatment strategy for pulmonary arteriovenous fistulas, transcatheter embolization and surgical resection are the main options, each of which has its advantages and disadvantages. Transcatheter embolization is minimally invasive and can be performed repeatedly, even in bilateral or multiple cases. However, pulmonary arteriovenous fistula has a high recurrence rate with transcatheter embolization. Additionally, transcatheter embolization can have complications, such as dislodgment of the coil if the outflow vein is larger than the inflow artery, rupture of the fistula, catheter perforation, and pulmonary infarction. However, surgical resection has the advantages of a low recurrence rate and reliable resection, regardless of the size of the fistula. Because surgical resection requires general anesthesia and reduces pulmonary function, its indication should be carefully determined, especially in cases of multiple and/or bilateral fistulas. Generally, transcatheter embolization is a valid indication for multiple cases. Notably, arteriovenous fistulas in the brain caused by Osler’s disease are associated with better treatment outcomes with surgery than coil embolization (8). In addition, pulmonary arteriovenous fistulas associated with Osler’s disease have a high risk of rupture, and surgical resection should be considered if rupture occurs (5).
A summary of previous reports of pulmonary arteriovenous fistulas is shown in Table I (9-16). Coil embolization was performed in four patients (10, 11, 14), surgery in four patients (9, 13, 15, 16), and follow-up in one patient (12). Notably, one patient needed an operation for recurrence after coil embolization (14). Generally, the risk of rupture of a pulmonary arteriovenous fistula increases if the diameter of the fistula increases. However, there have been previous reports of pulmonary arteriovenous fistulas associated with Osler’s disease that ruptured even though the diameter of the fistula was not large (15-18 mm) (17). This rupture may have occurred because the vessel walls were thin and vulnerable. In the present case, respiratory distress due to hypoxemia was observed, and a preoperative CT scan showed a large fistula, which was 26 mm in diameter, with an inflow vessel diameter of 4.2 mm and an outflow vessel diameter of 3.7 mm. These large sizes indicated a high risk of rupture and central nervous system complications, and hypoxia was mainly dependent on the largest arteriovenous fistula. Therefore, we decided to perform surgical resection of the lesion in the left S6 and transcatheter embolization for the other lesions. Because of the fragility of the pulmonary vessel walls due to Osler’s disease, an open thoracic approach was chosen to ensure safety. The inflow and outflow vessels were cut using an automated suture device (stapler). Similar methods have been adopted in many reported cases (18). In the current case, early treatment for the largest pulmonary arteriovenous fistula improved respiratory distress symptoms without recurrence. Surgical resection is a valid treatment option for pulmonary arteriovenous fistula associated with Osler’s disease. As more cases of pulmonary arteriovenous fistulas associated with Osler’s disease are reported, the long-term results are expected to be determined in the future.
Literature review of patients with pulmonary arteriovenous malformations (AVMs).
Conclusion
We experienced a case of pulmonary arteriovenous fistula caused by Osler’s disease that was treated by lobectomy. Although transcatheter treatment has become the mainstream treatment for pulmonary arteriovenous fistulas, surgical resection may be effective depending on the size of the lesion.
Acknowledgements
The Authors thank Ellen Knapp, PhD, from Edanz (https://jp.edanz.com/ac) for editing a draft of this manuscript.
Footnotes
Authors’ Contributions
Study conception: ST, TT, and TY. Writing: TI. Critical review and revision: MK and NM. Final approval of the article: All Authors. Accountability for all aspects of the work: All Authors.
Conflicts of Interest
The Authors declare no conflicts of interest in association with the present study.
Funding
This study was not supported by any funding.
- Received July 20, 2023.
- Revision received August 20, 2023.
- Accepted September 1, 2023.
- Copyright © 2023, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY-NC-ND) 4.0 international license (https://creativecommons.org/licenses/by-nc-nd/4.0).
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