Diagnosis and Treatment of Amyloidosis with Facial Droop

Clinical Recognition and Diagnostic Clues

Macroglossia is a hallmark feature that can cause facial asymmetry and droop, according to the American College of Cardiology 1
Periorbital ecchymoses are pathognomonic for AL amyloidosis and should prompt immediate evaluation, as recommended by the American College of Cardiology 1 and Praxis Medical Insights 2
Submandibular gland enlargement can contribute to facial asymmetry, as noted by Praxis Medical Insights 2

Tissue biopsy is mandatory and cannot be bypassed, with abdominal fat pad aspiration having 84% sensitivity for AL-CM, as stated by the American College of Cardiology 1
Biopsy options include gingival biopsy, particularly relevant given facial involvement, as recommended by Circulation 3 and 4
Bone marrow biopsy is required to demonstrate clonal proliferation of lambda or kappa-producing plasma cells, according to the American College of Cardiology 1 and Praxis Medical Insights 2
Mass spectrometry is the gold standard for typing with 88% sensitivity and 96% specificity, as noted by the American College of Cardiology 1 and Praxis Medical Insights 2 and 5

Daratumumab-CyBorD is the preferred first-line option for transplant-eligible and ineligible patients, as recommended by Praxis Medical Insights 2 and 5
The goal is to eradicate pathological plasma cells and remove affected light chains from circulation, requiring close collaboration between hematology, cardiology, and neurology, as stated by Praxis Medical Insights 2 and 5

Do not assume facial droop is a stroke, consider soft tissue infiltration from amyloidosis, especially with macroglossia or periorbital purpura, as warned by the American College of Cardiology 1 and Praxis Medical Insights 2
Do not use SPEP/UPEP alone, requires all three tests (sFLC, SIFE, UIFE) simultaneously, as recommended by the American College of Cardiology 1 and Praxis Medical Insights 2
Do not skip amyloid typing, mass spectrometry is the gold standard, as stated by the American College of Cardiology 1

Cardiac involvement is the main driver of disease prognosis and mortality, as noted by Praxis Medical Insights 2 and 5
Deep hematologic responses correlate with improved organ function and survival, as stated by Praxis Medical Insights 2