Via Research Recognition Day Program VCOM-Carolinas 2025

Case Reports

A Case of AL Amyloidosis Masquerading as Cocaine Induced Cardiomyopathy Maheen Farooq, OMS-III, Dr. Mario Rodriguez, MD VCOM, Spartanburg, South Carolina

Introduction

Results

Discussion

AL amyloidosis is a specific form of systemic amyloidosis that is caused by misfolding of immunoglobulin light chains which deposit in the heart, liver, kidneys, and peripheral nerves. It is commonly associated with plasma cell dyscrasias such as multiple myeloma, in which excess production of monoclonal light chains leads to amyloid fibril deposition within organs that can progress to dysfunction. Cardiac amyloidosis can present with heart failure with reduced ejection fraction (HFrEF) and restrictive cardiomyopathy, but a diagnosis can be delayed due to conditions that overlap such as cocaine-induced cardiomyopathy. Chronic cocaine abuse can cause cardiotoxicity with effects including coronary vasospasms, microvascular damage, and myocyte injury. The similarities in pathophysiology can complicate the clinical diagnosis because symptoms of AL amyloidosis may be due to the effects of substance use. This case report focuses on the complexity of an AL amyloidosis diagnosis, masked by cocaine-induced cardiomyopathy in a patient ultimately presenting with cardiogenic shock and refractory heart failure. Initial Presentation (February 2023):  Presenting Symptoms : Intermittent substernal chest pain, diaphoresis, and dyspnea post-cocaine use.  HPI: This is a 62-year-old male with a past medical history of polysubstance use who presented to SRH in February 2023 with chest pain for 2 to 3 weeks, nausea, diaphoresis, and dyspnea at rest after smoking crack cocaine. He reports feeling chest discomfort for 2-3 minutes when he does smoke crack cocaine but this episode of chest pain lasted 6-7 minutes with other associated symptoms. Denied fever, sick contacts, family history of MI, or previous history of MI. He tried home remedies for the chest discomfort, such as baking soda, to help alleviate the pain. He states history of smoking half pack per day for more than 40 years and significant alcohol use of 6 beers per day and half a pint of liquor once a week.  ROS: + chest pain, + nausea, + shortness of breath, + myalgias, + leg swelling, no palpitations, no dizziness  Physical Exam :  BP: 87/58, RR: 18, O2 Saturation: 98% on NC, HR: 83 bpm.  General: Diaphoretic, moderately dyspneic, alert and oriented.  Cardiovascular: Irregular rhythm, distant heart sounds, S3 gallop heard, no murmurs  Pulmonary: Increased work of breathing, no wheezes  Extremities: Mild lower extremity edema (1+ pitting), tenderness and tightness noted in bilateral calf’s, full range of motion in all extremities but with difficulty standing from a seated position due to weakness • Laboratory and Imaging Studies: • Elevated high-sensitivity troponin levels (>2000 ng/L) and BNP, consistent with heart failure. • Electrocardiogram (EKG): Lateral T wave depressions; episodes of atrial fibrillation with rapid ventricular response (RVR). • Echocardiography (February 2023): Demonstrated reduced left ventricular ejection fraction (EF 25 – 30%) with signs of heart failure with reduced ejection fraction (HFrEF). • Echocardiogram in July 2023 showed an EF of 35-40%. • Echocardiogram in December 2023 showed an EF of 10% • Initial light chain analysis revealed elevated lambda light chains. • Bone Marrow Biopsy (10./2023): Showed plasma cell neoplasm with 40% plasma cell infiltration and an abnormal kappa/lambda ratio. Methods

Figure 1. Elevated high-sensitivity troponin levels (>2000 ng/L) and BNP, consistent with heart failure. Initial light chain analysis revealed elevated lambda light chains.

Conclusion ● Delayed Diagnosis: History of cocaine use delayed evaluation of AL amyloidosis, as symptoms were initially attributed to the cardiotoxic effects of cocaine. Delayed diagnosis due to possible cocaine cardiomyopathy highlights the need to consider amyloidosis in polysubstance users with atypical heart failure. ● Role of Advanced Imaging and Biopsy: Cardiac MRI and bone marrow biopsy did not initially reveal amyloidosis, and the confirmatory diagnosis relied on endomyocardial biopsy and light chain analysis. This emphasizes the importance of tissue sampling as a vital assessment in complex cases. ● Challenges in Management: AL amyloidosis has a poor prognosis, particularly when cardiac involvement leads to end stage heart failure. Chronic cocaine abuse and AL amyloidosis worsened heart failure with reduced ejection fraction, leading to cardiogenic shock. The combined burden of cardiac amyloid deposition and polysubstance use significantly limits treatment options, as systemic therapies are often contraindicated in end-stage heart failure. ● Importance of comprehensive evaluation in complicated cardiomyopathy to enhance diagnosis, prognosis, and patient outcomes. • Patient outcome: Following biopsy confirmation of AL amyloidosis and continued decompensation, the patient was placed on Biventricular Impella placement for circulatory support, and inotropic support (dobutamine, milrinone) due to reduced EF. Patient also placed on advanced diuresis regimen with bumetanide drip for volume overload and respiratory support. Ultimately, patient transitioned to hospice care. • This case report highlights the diagnostic challenges of cocaine induced cardiotoxicity that can result in coronary vasospasm, masking similar symptoms of restrictive cardiomyopathies such as AL amyloidosis. • In this specific case, the initial presentation was attributed to cocaine-induced cardiotoxicity, which was mimicking the progressing amyloidosis until refractory heart failure and cardiogenic shock resulted in further work-up. • The delayed diagnosis due to likely cocaine cardiomyopathy reiterates the importance of considering amyloidosis in patients with polysubstance use and atypical heart failure.

Figure 2. Cardiac MRI (October 2023): Indicated non-ischemic cardiomyopathy with LVEF of 37% and mild basal septal hypertrophy, raising suspicion for infiltrative disease.

Conclusions

Figure 3. Endomyocardial Biopsy (December 2023): Positive Congo red staining, indicative of AL amyloidosis.

References References

● Kyle, R. A., & Gertz, M. A. (1995). Primary systemic amyloidosis: Clinical and laboratory features in 474 cases. Seminars in Hematology, 32 (1), 45 – 59. ● Dubrey, S. W., Cha, K., Anderson, J., Chamarthi, B., & Reisinger, J. (1998). The clinical features of immunoglobulin light-chain (AL) amyloidosis with heart involvement. The Quarterly Journal of Medicine, 91 (2), 141 – 157. ● Dhakal, B., Szabo, A., Chhabra, S., McCarthy, B., & Usmani, S. Z. (2014). Impact of light chain amyloidosis on the clinical outcome of multiple myeloma patients: A SEER database analysis. Blood, 124 (21), 3455. ● Milani, P., Merlini, G., & Palladini, G. (2018). Light chain amyloidosis: The heart of the problem. British Journal of Haematology, 183 (4), 510 – 520. ● Chin, A., & Goldman, L. (1997). Cardiovascular toxicity of cocaine: Adverse reactions and their management. Medical Toxicology and Adverse Drug Experience, 3 (2), 108 – 116. ● Cohen, J. B., & Eisenberg, E. (2020). Cocaine cardiomyopathy: A case series and literature review. Journal of the American College of Cardiology: Case Reports, 2 (1), 50-59. Acknowledgements

Figure 4. A. Amyloid Deposition with HE. B. Congo Red Staining.

2025 Research Recognition Day

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