APPROACH TO ACUTE HYPOXIC RESPIRATORY FAILURE IN A PATIENT WITH COPD AND UNDERLYING HISTORY OF HEREDITARY HEMORRHAGIC TELENGIECTASIA WITH PULOMARY AV MALFORMATIONS

ABSTRACT

TOPIC Lung Pathology TYPE Medical Student/Resident Case Reports INTRODUCTION: Hereditary Hemorrhagic Telangiectasia is a multisystem disease which results in AV Malformations and telangiectasia. It has autosomal dominant inheritance and prevalence of 1 in 5000 to 1 in 10,000. 1 Patients with Pulmonary AVMs can present with hypoxia, more post exercise and in sedentary position with improvement on standing. Patients presenting with hypoxia with history of HHT should undergo thorough evaluation including radiological imaging and echocardiography to rule out recurrence of AVMs and sequelae such as pulmonary hypertension or pulmonary arterial hypertension, respectively. CASE PRESENTATION We present a case of 66 y/o male with Past medical history of HHT with AVM s/p repair presented with complaints of dyspnea with cough and sputum production. In ER patient was hypoxic with SPO2 88% on room air. Patient had coarse rhonchi, scattered wheeze and telangiectasia on the nose and hands. Routine labs were normal. Legionella antigen, SARS antigen, COVID PCR were negative. Chest x-ray revealed peri hilar and basilar reticular opacities. CT of chest with contrast revealed prior right lower lobe AVM repair with almost complete resolution and signs of severe COPD with emphysema. Transthoracic echocardiogram ruled out pulmonary artery hypertension. Patient was treated for COPD exacerbation with albuterol/ ipratropium nebulization, steroids, oxygen support and azithromycin. DISCUSSION: HHT is a familial genetic disease with autosomal dominant mutations of endoglin gene on chromosome 9q33-q34 or ALK-1 gene on chromosome 12q13.2 50% of all HHT patients develop pulmonary AV malformations. Clinical finding includes hypoxic respiratory failure. Pulmonary AVMs lead to right to left shunt formation impairing effective gas exchange leading to hypoxia, interestingly these patients can participate in high intensity physical activity despite of being severely hypoxic, this has been attributed to hemodynamic compensatory responses. 3 This shunt can lead to paradoxical emboli causing strokes and brain abscess. Management of Pulmonary AVMs includes trans catheter coil vaso-occlusion of the artery. Recanalization of treated pulmonary AVMs and development or growth of untreated pulmonary AVMs has been known, warranting long term follow up. Pulmonary AVMs itself is a life threating condition, its course can be further complicated by chronic lung disease like COPD. These patients can present with dyspnea not explained by right to left shunting, it is attributed more to underlying lung conditions, in our patient's case, COPD. CONCLUSIONS: While HHT is not known to cause COPD, it can lead to worsening of COPD by causing Pulmonary hypertension due to high output cardiac failure or pulmonary artery hypertension. Therefore, in patients with history of HHT presenting with hypoxia, it is crucial to have detailed evaluation for recurrence of AV malformations or new onset pulmonary hypertension. REFERENCE #1 Mary E. Meek, M.D., James C. Meek, D.O., Michael V. Beheshti, M.D. Management of Pulmonary AV Malformations [Google Scholar, PubMed] REFERENCE #2 C. Sabba, M. Gallitelli, G. Pasculli, P. Supressa, F. Resta and E. Tafaro. HHT A rare disease with a broad spectrum of clinical aspects [PubMed] REFERENCE #3 Dupius-Girod S., Cottin V, Shovlin C. The lung in hereditary hemorrhagic telangiectasia [Google Scholar] DISCLOSURES No relevant relationships by Khushdeep Chahal, source=Web Response No relevant relationships by priyanka kapoor, source=Web Response