P5082 - GI Amyloid: More Than a Heavy Heart

Leandro Gutierrez, MD¹, Miguel Agudelo, MD¹, Shari Forbes, MD^2
1Newark Beth Israel Medical Center, Union, NJ; ²Newark Beth Israel Medical Center, Newark, NJ

Introduction: Amyloid transthyretin (ATTR) amyloidosis is caused by the accumulation of insoluble transthyretin (TTR) amyloid fibrils. These proteins can build up in various organ systems such as the musculoskeletal, gastrointestinal, and ocular system. However, there is usually a predilection for the heart and nervous system [1]. ATTR comprises approximately 16% of GI amyloid cases, with the small bowel being the most common area of involvement [2]. Symptoms typically include abdominal pain, nausea and vomiting, unintentional weight loss, diarrhea, and constipation. Given the rarity of the disease, we present a case of biopsy proven ATTR GI amyloidosis to raise awareness and, consequently, aid in early recognition.

Case Description/Methods: Our patient is a 48-year-old female who had multiple evaluations for complaints of chest discomfort and gastrointestinal symptoms including nausea, vomiting and diarrhea. Initial evaluation included an echocardiography which found severe left ventricular hypertrophy. A left cardiac catheterization was completed, however, this revealed normal coronary vasculature. Despite medical management, the patient developed worsening symptoms of heart failure warranting repeat echocardiography which showed a significant reduction in ejection fraction. She continued to have refractory gastrointestinal symptoms and developed new epigastric pain. A gastric emptying study was done, resulting in a diagnosis of gastroparesis. With the constellation of findings i.e., the pattern of ventricular hypertrophy, lack of hypertensive and coronary artery disease, as well as gastroparesis, there was suspicion for systemic infiltrative disease, which led to further investigation. Several bowel biopsies confirmed amyloid deposits. The patient underwent a Tc99m-PYP scan which revealed evidence of cardiac amyloidosis and a cardiac biopsy showed a profile consistent with amyloid transthyretin type.

Discussion: Our case highlights that amyloidosis, including GI amyloidosis, has the potential to go unrecognized due to non-specific signs and symptoms. Clinicians should therefore always have a high index of suspicion as GI involvement in systemic amyloidosis, regardless of protein subtype, is common. This high index of suspicion will allow for the appropriate pathologic examination to be pursued, and ultimately the appropriate management.




Disclosures:


Leandro Gutierrez, MD¹, Miguel Agudelo, MD¹, Shari Forbes, MD². P5082 - GI Amyloid: More Than a Heavy Heart, ACG 2024 Annual Scientific Meeting Abstracts. Philadelphia, PA: American College of Gastroenterology.