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Updated: Jul 15, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Recurrent Pleural Effusion and Grade 3 Pyrophosphate Uptake in Cardiac Immunoglobulin Light Chain (AL) Amyloidosis: A
Amanda Carreon Simental1, David Villanueva-Lechuga2, Leonor Bonilla Quezada1
1Internal Medicine, Centro Medico Nacional 20 de Noviembre, Mexico City, MEX.
Abstract:
Cardiac immunoglobulin light chain (AL) amyloidosis classically presents with biventricular heart failure and increased wall thickness. Recurrent unilateral pleural effusion as the inaugural manifestation is rarely recognized, and grade 3 99mTc-pyrophosphate (PYP) uptake is conventionally attributed to transthyretin amyloidosis (ATTR) amyloidosis. We describe a 66-year-old woman with treatment-resistant heart failure with preserved ejection fraction who presented with refractory pleural effusion requiring three large-volume thoracenteses. Echocardiography showed concentric hypertrophy with apical-sparing strain, and PYP scintigraphy demonstrated grade 3 myocardial uptake. Serum free light chains revealed a markedly elevated lambda fraction (33,562 mg/L) with a profoundly suppressed kappa-to-lambda ratio (0.001), and bone marrow biopsy confirmed coexistent multiple myeloma. First-line plasma cell-directed chemotherapy was initiated, but the patient died of septic shock and multi-organ failure 60 days after admission. This case illustrates two underrecognized phenomena: refractory unilateral pleural effusion as an inaugural feature of AL amyloidosis, and PYP-positive scintigraphy mimicking ATTR despite biochemically confirmed AL disease. Plasma cell dyscrasia must be excluded before any PYP-based diagnosis of ATTR amyloidosis is accepted, and refractory unilateral pleural effusion in a patient with diuretic-resistant heart failure warrants systematic evaluation for cardiac amyloidosis.
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