P1544 - The Tale of the Telangiectatic Anemic

Jonathan Vincent M. Reyes, MD, MHA¹, Christine Bieber, ², Saad Ahmad, DO¹, Tasur Seen, MD¹, Arun John, MD^1
1Icahn School of Medicine at Mount Sinai (Elmhurst Hospital Center), Elmhurst, NY; ²St. George's University School of Medicine, Elmhurst, NY

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant systemic vasculopathy characterized by mucocutaneous telangiectasias and visceral organ arteriovenous malformations (AVMs). HHT affects approximately 1 in 5000 individuals worldwide.

Case Description/Methods: A 72-year-old Hispanic male with a PMH of compensated cirrhosis admitted for symptomatic anemia who presented with a 6-month history of worsening shortness of breath, dizziness, and fatigue. Physical exam revealed hemodynamic stability, nasal and lip telangiectasias, flow murmur. Lab results were significant for a hemoglobin of 3.8 g/dL. He has had lifelong intermittent spontaneous epistaxis, nasal and lip telangiectasias, and non-bleeding gastric AVMs previously found on EGD. Further workup revealed telangiectasias in the small bowel via capsule endoscopy, a positive bubble study on a transthoracic echocardiogram, and cirrhosis with portal HTN and splenomegaly on abdominal ultrasound. He received 4 units of pRBC with the resolution of his symptoms.

Discussion: HHT is clinically diagnosed with the Curacao Criteria, which includes: (1) spontaneous recurrent nosebleeds; (2) mucocutaneous telangiectasias on the face, lips, and hands; (3) visceral telangiectasias with GI, pulmonary and cerebral involvement; and a (4) first-degree relative affected. A definite diagnosis is made if three criteria are met. Although this patient did not fulfill the fourth Curacao criteria, approximately 20% of the cases do not have a family history. Epistaxis is the most common presenting symptom affecting approximately 50% of patients. Telangiectasis are dilated post-capillary venules directly connected with dilated arterioles that are more prone to hemorrhage, especially those located in nasal or gastrointestinal (GI) mucosa. Telangiectasia can be found throughout the GI tract, especially in the stomach and duodenum. Gastrointestinal telangiectasias are associated with acute or chronic bleeding. Nasal and digestive mucosal telangiectasia can coexist thus a high clinical suspicion of GI bleeding in patients with HHT who present with severe anemia is necessary. Arteriovenous malformations are also hallmarks of HHT and can form in any organ, such as the lung, brain, liver, and intestines. Early detection, screening, and intervention for these bleeding manifestations of HHT will improve quality of life and mitigate high-risk complications such as high-output cardiac failure, ischemic stroke, and severe symptomatic anemia.



Disclosures:


Jonathan Vincent M. Reyes, MD, MHA¹, Christine Bieber, ², Saad Ahmad, DO¹, Tasur Seen, MD¹, Arun John, MD¹. P1544 - The Tale of the Telangiectatic Anemic, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.