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Updated: Oct 29, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
AL type cardiac amyloidosis: a devastating fatal disease
Adeel Nasrullah1, Anam Javed1, Thejus T Jayakrishnan1
1Department of Medicine, Allegheny Health Network, Pittsburgh, USA.
Systemic AL amyloidosis with cardiac and renal involvement, associated with multiple myeloma, presents a grave prognosis. Early diagnosis and multidisciplinary care are crucial for managing this rare but severe condition.
Area of Science:
- Cardiology
- Oncology
- Nephrology
Background:
- Cardiac amyloidosis is a rare condition with a poor prognosis.
- Often diagnosed late due to non-specific symptoms, leading to multi-organ involvement.
Purpose of the Study:
- To report a case of systemic AL amyloidosis with significant cardiac and renal involvement.
- To highlight the association with multiple myeloma and the challenges in management.
Main Methods:
- Case report of a 60-year-old male with progressive edema, dyspnea, and weight gain.
- Diagnostic workup included elevated cardiac biomarkers, EKG, echocardiography, and biopsies.
- Confirmed AL type cardiac amyloidosis and multiple myeloma.
Main Results:
- The patient presented with symptoms suggestive of advanced cardiac involvement and renal compromise.
- Diagnostic findings confirmed AL amyloidosis and multiple myeloma.
- Despite treatment with bortezomib, cyclophosphamide, and dexamethasone, the patient's condition deteriorated, leading to cardiac arrest.
Conclusions:
- Cardiac involvement in AL amyloidosis significantly increases morbidity and mortality.
- Management requires a coordinated approach between cardiology and oncology.
- Outcomes for AL-type cardiac amyloidosis remain poor despite advancements in diagnostics and treatment.
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