P1560 - Unmasking the Chameleon: A Case of Systemic Amyloidosis with Gastrointestinal and Cardiac Involvement

Himsikhar Khataniar, MD¹, Ashni Dharia, MD¹, Evan Reinhart, DO², Chandan K. Dash, MD¹, Rachel Toney, MD^2
1Allegheny General Hospital, Pittsburgh, PA; ²Allegheny Center for Digestive Health, Pittsburgh, PA

Introduction: Amyloidosis represents a group of diseases characterized by amyloid protein deposition, leading to multiple organ dysfunctions. Despite its low incidence, systemic amyloidosis, especially with gastrointestinal (GI) involvement, poses significant diagnostic and management challenges due to its insidious onset and varied manifestations. Early diagnosis is crucial for improving outcomes, highlighting the need for increased awareness among healthcare providers.

Case Description/Methods: We report a case of a 53-year-old male presenting with persistent throat irritation, significant weight loss, generalized abdominal pain, and various systemic symptoms. Initial evaluations, including blood and urine tests, were unremarkable. However, persistent symptoms led to further investigations, including GI endoscopies and biopsies of the colon and duodenum, which revealed amyloid deposits confirmed by Congo red staining. Despite an acute presentation of pancreatitis and subsequent cardiac symptoms, a comprehensive diagnosis of AL amyloidosis was established based on elevated serum free light chain ratio, cardiac MRI, and echo findings. However, the patient's condition deteriorated suddenly, leading to cardiac arrest and death before definitive treatment could begin.

Discussion: This case underscores the diagnostic complexities of systemic amyloidosis, particularly with nonspecific initial presentations. It emphasizes the critical role of tissue biopsies in diagnosing amyloidosis and the importance of a multidisciplinary approach in management. The case highlights the necessity for early consideration of amyloidosis in differential diagnoses for progressive, unexplained systemic symptoms. It also reflects on the evolving management strategies for AL amyloidosis, including the use of chemotherapy and novel agents, underscoring the importance of early diagnosis and intervention.



Disclosures:


Himsikhar Khataniar, MD¹, Ashni Dharia, MD¹, Evan Reinhart, DO², Chandan K. Dash, MD¹, Rachel Toney, MD². P1560 - Unmasking the Chameleon: A Case of Systemic Amyloidosis with Gastrointestinal and Cardiac Involvement, ACG 2024 Annual Scientific Meeting Abstracts. Philadelphia, PA: American College of Gastroenterology.