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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[Prognostic factors in light-chain cardiac amyloidosis: a retrospective analysis]
Hiroki Okumura1, Shuku Sato1, Wataru Kamata1
1Division of Hematology, Shonan Kamakura General Hospital.
Insights
Cardiac amyloidosis significantly worsens prognosis in amyloid light-chain (AL) amyloidosis patients. Identifying poor prognostic factors is crucial for treatment decisions and palliative care in AL amyloidosis.
Area of Science:
- Cardiology
- Hematology
- Oncology
Background:
- Amyloid light-chain (AL) amyloidosis is a plasma cell disorder causing amyloid deposition in organs.
- Cardiac involvement in AL amyloidosis is a known predictor of poor survival.
- Limited prognostic indicators exist that comprehensively assess organ involvement and patient condition.
Purpose of the Study:
- To identify prognostic factors for AL amyloidosis.
- To evaluate the impact of cardiac involvement on survival in AL amyloidosis patients.
- To inform treatment strategies and palliative care decisions.
Main Methods:
- Retrospective review of 27 AL amyloidosis patients diagnosed between 2012 and 2019.
- Analysis of survival rates based on cardiac involvement.
- Identification of clinical and laboratory parameters associated with poor prognosis.
Main Results:
- The 3-year overall survival rate was 20% for patients with cardiac involvement versus 85.7% for those without (p=0.021).
- Poor prognostic factors included low left ventricular ejection fraction, low hemoglobin, elevated NT-proBNP and BNP, high difference free light chains, advanced NYHA class, Mayo stage IV disease, and cardiac amyloidosis.
- Four non-survivors within 6 months all had cardiac amyloidosis, Mayo stage IV disease, and insufficient chemotherapy.
Conclusions:
- Cardiac amyloidosis is a critical factor associated with poor prognosis in AL amyloidosis.
- Multiple factors including cardiac status, hematologic markers, and disease stage predict survival.
- Careful treatment planning, including palliative care, is essential for patients with poor prognostic indicators in AL amyloidosis.
Abstract:
Among cases of amyloid light-chain (AL) amyloidosis, cardiac amyloidosis is particularly known to be associated with a poor prognosis. However, a few established prognostic indicators exist that consider other organ involvements and a patient's general condition. Between 2012 and 2019, we retrospectively reviewed 27 patients, who were diagnosed with AL amyloidosis at our hospital. The 3-year overall survival rate of patients with cardiac involvement was 20% (95% confidence interval [CI], 0.035-0.461) and that of patients without cardiac involvement was 85.7% (95%CI, 0.334-0.979) (p=0.021). Poor prognostic factors of AL amyloidosis included left ventricular ejection fraction <60%, hemoglobin < 10 g/dl, NT pro-BNP>1,800 pg/ml, BNP>400 pg/ml, difference free light chains>180 mg/l, New York Heart Association classification ≥3, Mayo stage IV disease, and cardiac amyloidosis. A study on four patients who died within 6 months of diagnosis revealed that all the patients had cardiac amyloidosis and Mayo stage IV disease, and they all did not receive sufficient chemotherapy. Although the number of treatment options for AL amyloidosis is expected to increase in the future, patients with poor prognostic factors have a poor prognosis and careful treatment decisions, including palliative care, are required.
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