Osler Weber Rendu Sendromu: Tanı ve Tedavi Stratejisi

Öz

Herediter hemorajik telanjiektazi (HHT), diğer adıyla Osler-Weber-Rendu sendromu, otozomal dominant geçiş gösteren, tekrarlayan burun kanamaları, mukokutanöz telanjiektaziler ve çeşitli iç organlarda arteriovenöz malformasyonlarla (AVM) karakterize vasküler bir hastalıktır. Bu olgu sunumunda nadir görülen bir HHT olgusunda tanı ve tedavi yaklaşımımızı sunmak ve farkındalığı arttırmayı amaçladık. Daha önce bilinen hastalığı olmayan 22 yaşında erkek hasta, iş başvurusu sonrası çekilen Toraks bilgisayarlı tomografisinde (BT) en büyüğü orta lobda 33x25 mm olmak üzere bilateral multipl pulmoner AVM’ler saptandı. Öykü, klinik bulgular ve radyolojik görüntülerin değerlendirilmesiyle HHT tanısı kondu. Hastaya uygun tedavi stratejisi kapsamında coil ile embolizasyon uygulandı. HHT tanısında en önemli adım hastalıktan şüphelenmektir. Epistaksis, pozitif aile öyküsü ve çoklu AVM varlığı tanıya önemli ölçüde yol gösterir. Standart bir tedavi protokolü bulunmadığından erken tanı ve hastaya özgü tedavi yaklaşımları önemlidir.

Anahtar Kelimeler

• Herediter hemorajik telanjiektazi
• Osler-Weber-Rendu sendromu
• pulmoner arteriyovenöz malformasyon

Osler-Weber-Rendu Syndrome: Diagnosis and Treatment Strategy

Öz

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant vascular disorder characterized by recurrent epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations (AVMs) in various organs. In this case report, we aimed to present our diagnostic and therapeutic approach in a rare case of HHT and to raise clinical awareness. A 22-year-old male patient with no known prior disease was evaluated after a thoracic computed tomography (CT) performed during a job application revealed bilateral multiple pulmonary AVMs, the largest measuring 33×25 mm in the middle lobe. Based on the patient’s history, clinical findings, and radiological features, a diagnosis of HHT was established. Coil embolization was performed as part of the individualized treatment strategy. Suspicion is essential for the diagnosis of HHT; epistaxis, family history, and multiple AVMs are key diagnostic clues. As there is no standard treatment protocol, early diagnosis and patient-specific therapeutic approaches are crucial.

Anahtar Kelimeler

• Hereditary hemorrhagic telangiectasia
• Osler-Weber-Rendu syndrome
• pulmonary arteriovenous malformation

Kaynakça

1. 1. Juarez AJ, Dell'Aringa AR, Nardi JC, Kobari K, Rodrigues VGM, Perches Filho RM. Rendu-Osler-Weber syndrome: case report and literature review. Braz J Otorhinolaryngol. 2008; 74: 452-457. doi: 10.1016/S1808-8694(15)30582-6
2. 2. Parrot A, Barral M, Amiot X, Cadranel J. La maladie de Rendu-Osler (télangiectasie hémorragique héréditaire) [Hereditary hemorrhagic telangiectasia]. Rev Mal Respir. 2023; 40: 391-405. doi: 10.1016/j.rmr.2023.02.007
3. 3. Peery WH. Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Am J Med. 1987; 82: 989-997. doi: 10.1016/0002-9343(87)90162-8
4. 4. Kritharis A, Al-Samkari H, Kuter DJ. Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective. Haematologica. 2018; 103: 1433-1443. doi: 10.3324/haematol.2018.193003
5. 5. Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, et al. Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. Ann Intern Med. 2020; 173: 989-1001. doi: 10.7326/M20-1443
6. 6. Salibe-Filho W, Oliveira FR, Terra-Filho M. Update on pulmonary arteriovenous malformations. J Bras Pneumol. 2023; 49: e20220359. doi: 10.36416/1806-3756/e20220359
7. 7. Berkowitz C, Kasthuri RS. Not so benign hereditary hemorrhagic telangiectasia: more than just recurrent nosebleeds. The Hematologist. 2023; 20. doi: 10.1182/hem.V20.6.2023612
8. 8. Shimohira M, Kawai T, Ohta K. An update on embolization for pulmonary arteriovenous malformations. Interv Radiol (Higashimatsuyama). 2023; 8: 56-63. doi: 10.22575/interventionalradiology.2021-0030

9. 9. Flury DV, Kocher GJ, Lutz JA, Schmid RA, Dorn P. Uniportal thoracoscopic surgery for pulmonary arteriovenous malformations-report of technique and case series. Curr Chall Thorac Surg. 2020; 2: 26. doi: 10.21037/ccts.2020.04.01