Osler Weber Rendu: Troubling Telangiectasias and Thrombosis

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INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu, is a frequently overlooked autosomal dominant disorder with varying penetrance and expression. Although rates range from 1:5000 to 1:8000 patients, studies have reported that this disease is under reported and may go unnoticed by patients and physicians alike. Commonly reported mutations are the ENG, ACVRL1 and SMAD4 genes although 611 different variants have been identified. The more prevalent complications involve pulmonary arteriovenous malformation (PAVM), cerebral infections and mucocutaneous bleeds such as epistaxis. CASE PRESENTATION: The patient is a 66 year old female with past medical history of asthma, unprovoked pulmonary embolism (PE) and deep venous thrombosis (DVT) on warfarin. She presented to the office for dyspnea thought to be due to her asthma but upon questioning, identified that five of the patient's nine siblings as well as her mother were diagnosed with HHT. Physical exam revealed mucocutaneous telangiectasias and sporadic epistaxis. She underwent routine CT chest which was significant for a right lower lobe PAVM for which she underwent coil embolization. Follow up imaging revealed it had uncoiled and she required revision which has to date remained stable. DISCUSSION: HHT patients are prone to vascular lesions such as arteriovenous shunts and telangiectasias causing a constellation of symptoms ranging from epistaxis to PAVM. The latter allows right to left shunting of blood which bypasses the pulmonary circulation resulting in life threatening neurologic complications such as brain abscesses, paradoxical embolic strokes and hemorrhages. Further confounding the matter is the fact that these brain abscesses are frequently not associated with leukocytosis, necessitating a higher level of suspicion for those with an established diagnosis of PAVM to avoid any delays of care. Silent cerebral infarcts are another complication with a pronounced proclivity for this patient population, expanding the myriad of potential neurologic catastrophes which can be overlooked if the initial diagnosis of HHT, and subsequent PAVM, is missed. CONCLUSIONS: Pulmonary AVMs can cause a multitude of problems, some with significant morbidity and mortality. A core component of management is to correct iron deficiency due to the increased risk of bleeding. With more than half of HHT patients having PAVMs, it is imperative that physicians be aware of the medical intricacies and the principles of management. This patient population is more prone to developing uncontrolled bleeds whether it be from epistaxis or ruptured AVMs, emphasizing the importance of early intervention with embolization. Infectious seeding is another deadly risk factor, necessitating the need for prophylactic antibiotics for routine procedures such as dental extractions or endoscopies. Special consideration needs to be given to pregnant patients with HHT as they are considered high risk due to the fact that the PAVMs can enlarge, occasionally resulting in fatal hemorrhage. Furthermore, PAVM patients can have asymptomatic hypoxemia without hypoxia due to impaired gas exchange, differentiating it from parenchymal lung disease resulting in low PaO2. Overall, the diagnosis of hereditary hemorrhagic telangiectasia entails close screening, monitoring and follow-up, which if done diligently, can result in a normal life expectancy




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Chest Annual Meeting 2023, October 8-11, 2023, Honolulu, HI