Title : Clinical characteristics and one-year outcomes in patients with cardiac amyloidosis: A case series
Abstract:
Introduction: Systemic Light-Chain (AL) amyloidosis, a rare protein misfolding disorder, causes organ dysfunction through amyloid fibril deposition, notably in the heart. Early diagnosis is challenging due to nonspecific symptoms, requiring specialized tests like serum Free Light Chain (FLC) assays. This case series reports the clinical profiles, diagnostic findings, and one-year outcomes of 6 systemic amyloidosis patients who presented to a tertiary Cardiology centre, highlighting AL amyloidosis complexity.
Materials and Methods: Six patients diagnosed with AL amyloidosis (January 2021–December 2022) at a tertiary centre in Kerala, India, were studied. Data from medical records included demographics, comorbidities, symptoms, organ involvement, laboratory findings (FLC, NT-proBNP, troponin), and treatment outcomes. Descriptive statistics summarized characteristics. Ethical guidelines were followed, with informed consent obtained.
Results: Patients (median age: 58 years, four females, 2 males) presented with congestive cardiac failure (n=2), arthralgia, weight loss, ventricular tachycardia, or malena. Cardiac involvement was evident in all patients (NT-proBNP: 553–>25,000 pg/mL). FLC assays showed abnormal kappa/lambda ratios, confirming AL amyloidosis. Organ involvement included liver, kidneys, and gastrointestinal tract. Four patients tolerated CyBorD-based chemotherapy, one received autologous stem cell transplantation, all on maintenance therapy at one-year follow-up. Two with advanced cardiac disease died. Diagnostic delays (2 months–2 years) correlated with poorer outcomes.
Conclusion: This series underscores AL amyloidosis’s heterogeneity and diagnostic challenges. Early FLC-based diagnosis is critical. Advanced cardiac involvement predicts poor prognosis. Novel therapies like daratumumab warrant further exploration to enhance survival.
