Hereditary ATTR amyloidosis: A single-institution experience with 266 patients

Paul L. Swiecicki, David B. Zhen, Michelle L. Mauermann, Robert A. Kyle, Steven R. Zeldenrust, Martha Grogan, Angela Dispenzieri, Morie A. Gertz

Research output: Contribution to journalArticlepeer-review

43 Scopus citations


Background: Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare, clinically heterogeneous disease due to heritable mutations that lead to misfolding of a precursor protein and multisystem disease. This study sought to define the clinical characteristics, distribution of mutations and phenotypic presentation of patients presenting to our center with hereditary ATTR amyloidosis. Methods: With institutional review board approval, the study retrospectively identified patients who had hereditary ATTR amyloidosis and presented to Mayo Clinic in Rochester, Minnesota, from 1 January 1970, to 29 January 2013. Results: Of the 266 patients with the diagnosis of hereditary ATTR amyloidosis, a pathogenic mutation was identified in 206; the most common mutation was Thr60Ala (68 patients [25%]). Median age at diagnosis was 63.3 years; median survival after diagnosis was 56.8 months (10th-90th percentile, 16.0-297.9). On multivariate analysis, age at diagnosis (risk ratio, 15.65; p < 0.0001), Thr60Ala mutation (risk ratio, 1.52; p = 0.04), Val122Ile mutation (risk ratio, 2.83; p = 0.003), peripheral neuropathy (risk ratio, 1.69; p = 0.013) and weight loss (risk ratio, 1.81; p = 0.002) were risk factors for death. Conclusion: Our data characterize the features of hereditary ATTR amyloidosis in a large cohort, demonstrate the heterogeneity among mutations and support the need to better characterize the clinical progression of individual mutations.

Original languageEnglish (US)
Pages (from-to)123-131
Number of pages9
Issue number2
StatePublished - Jun 1 2015


  • Cardiomyopathy
  • Mutation
  • Peripheral neuropathy
  • Phenotype
  • Transthyretin

ASJC Scopus subject areas

  • Internal Medicine


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