Hallie I Geller1, Avinainder Singh1, Tara M Mirto1, Robert Padera2, Richard Mitchell2, Jacob P Laubach3, Rodney H Falk4. 1. Cardiac Amyloidosis Program, Brigham and Women's Hospital, Harvard Medical School, Boston, MA. 2. Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA. 3. Cardiac Amyloidosis Program, Brigham and Women's Hospital, Harvard Medical School, Boston, MA; Jerome Lipper Multiple Myeloma Center, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA. 4. Cardiac Amyloidosis Program, Brigham and Women's Hospital, Harvard Medical School, Boston, MA. Electronic address: rfalk@bwh.harvard.edu.
Abstract
OBJECTIVE: To evaluate the prevalence of monoclonal gammopathy (MG) in patients with wild-type transthyretin amyloidosis (ATTRwt) (formerly known as senile amyloidosis). PATIENTS AND METHODS: We retrospectively analyzed the serum protein electrophoresis and serum immunofixation results, free light chain (FLC) levels, and renal function of 113 consecutive patients with ATTRwt seen at the Brigham and Women's Hospital's Cardiac Amyloidosis Program between February 21, 2006, and November 9, 2016. Monoclonal gammopathy was defined as a monoclonal protein present in the serum. Light chain MG was defined as an abnormal serum FLC κ/λ ratio with an elevated FLC level in the absence of a monoclonal protein. In patients with renal dysfunction, the renal FLC reference range was used. RESULTS: The mean age of the population was 75 years, 3 of the 113 patients (3%) were female, and 110 (97%) were white. Monoclonal gammopathy was present in 26 patients (23%), 24 of whom had monoclonal protein present and 2 others who met criteria for light chain MG. Most clones (12 of 20 [60%]) were λ restricted. Another 7 patients had an abnormal FLC κ/λ ratio in the setting of renal dysfunction. CONCLUSION: In this study, MG was present in 23% of patients with ATTRwt. The finding of MG or an abnormal FLC κ/λ ratio in an elderly man may cause diagnostic confusion during subtyping of amyloidosis. A high degree of clinical suspicion for ATTRwt and precise tissue typing using mass spectrometry may overcome such diagnostic challenges.
OBJECTIVE: To evaluate the prevalence of monoclonal gammopathy (MG) in patients with wild-type transthyretinamyloidosis (ATTRwt) (formerly known as senile amyloidosis). PATIENTS AND METHODS: We retrospectively analyzed the serum protein electrophoresis and serum immunofixation results, free light chain (FLC) levels, and renal function of 113 consecutive patients with ATTRwt seen at the Brigham and Women's Hospital's Cardiac Amyloidosis Program between February 21, 2006, and November 9, 2016. Monoclonal gammopathy was defined as a monoclonal protein present in the serum. Light chain MG was defined as an abnormal serum FLC κ/λ ratio with an elevated FLC level in the absence of a monoclonal protein. In patients with renal dysfunction, the renal FLC reference range was used. RESULTS: The mean age of the population was 75 years, 3 of the 113 patients (3%) were female, and 110 (97%) were white. Monoclonal gammopathy was present in 26 patients (23%), 24 of whom had monoclonal protein present and 2 others who met criteria for light chain MG. Most clones (12 of 20 [60%]) were λ restricted. Another 7 patients had an abnormal FLC κ/λ ratio in the setting of renal dysfunction. CONCLUSION: In this study, MG was present in 23% of patients with ATTRwt. The finding of MG or an abnormal FLC κ/λ ratio in an elderly man may cause diagnostic confusion during subtyping of amyloidosis. A high degree of clinical suspicion for ATTRwt and precise tissue typing using mass spectrometry may overcome such diagnostic challenges.
Authors: Ana Devesa-Arbiol; Álvaro Aceña-Navarro; Ana M Pello-Lázaro; Miguel Orejas Orejas; Elham Askari; Ángel Merino; Gregoria Lapeña; Felipe Navarro Del Amo; Borja Ibañez; José Tuñón-Fernández Journal: Circ Cardiovasc Imaging Date: 2019-08-27 Impact factor: 7.792
Authors: Avinainder Singh; Hallie I Geller; Kevin M Alexander; Robert F Padera; Richard N Mitchell; Sharmila Dorbala; Jorge J Castillo; Rodney H Falk Journal: Haematologica Date: 2018-04-19 Impact factor: 9.941
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