Atypical Presentation of Systemic Amyloid Light Chain (AL) Amyloidosis

Area of Science:

• Cardiology
• Hematology
• Oncology

Background:

• Light chain (AL) amyloidosis originates from a plasma cell clone producing misfolded monoclonal light chains, leading to systemic organ damage.
• The systemic nature of AL amyloidosis often results in vague, nonspecific symptoms affecting multiple organ systems, complicating diagnosis.
• Atypical presentations, like isolated shortness of breath, can obscure the underlying diagnosis of AL amyloidosis.

Observation:

• A 66-year-old female presented with progressive shortness of breath, initially lacking other typical symptoms or significant past medical history.
• Imaging revealed bilateral pleural effusions, and ECG showed atrial fibrillation, both managed symptomatically.
• Transthoracic cardiac ultrasound suggested AL amyloidosis with a "grainy" myocardium, heart failure, and left ventricular hypertrophy, supported by serum and urine protein electrophoresis.

Findings:

• AL amyloidosis was confirmed via abdominal fat pad and bone marrow biopsies.
• Cardiac ultrasound proved valuable in preliminary diagnosis, but confirmatory testing remains essential.
• The fat pad biopsy was utilized as a readily available, technically simpler definitive diagnostic tool in this case.

Implications:

• This case underscores the importance of considering AL amyloidosis in patients with atypical or isolated symptoms, even without a prior history.
• The diagnostic utility of cardiac ultrasound and fat pad biopsy in AL amyloidosis is highlighted, alongside the need for established confirmatory methods.
• Timely diagnosis and transfer to specialized centers are crucial for accessing optimal treatment for AL amyloidosis, given the complexity of management and specialized medication requirements.