Format

Send to

Choose Destination
Blood Cancer J. 2019 Mar 5;9(3):30. doi: 10.1038/s41408-019-0193-9.

Two types of amyloidosis presenting in a single patient: a case series.

Author information

1
Division of Hematology, Department of Internal Medicine, Mayo Clinic Rochester, Rochester, MN, USA.
2
Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester, Rochester, MN, USA. McPhail.ellen@mayo.edu.
3
Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester, Rochester, MN, USA.
4
Department of Health Sciences Research, Mayo Clinic Rochester, Rochester, MN, USA.
5
Division of Nephrology, Department of Internal Medicine, Mayo Clinic Rochester, Rochester, MN, USA.
6
Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.
7
Division of Hematology, Department of Internal Medicine, Mayo Clinic Rochester, Rochester, MN, USA. dispenzieri.angela@mayo.edu.

Abstract

The amyloidoses are a group of disorders with overlapping clinical presentations, characterized by aggregation and tissue deposition of misfolded proteins. The nature and source of the amyloidogenic protein determines therapy, therefore correct subtyping is critical to patient management. We report the clinicopathologic features of nine patients diagnosed with two amyloid types confirmed by liquid chromatography-coupled tandem mass spectrometry. The most common types were transthyrethin (n = 9) and immunoglobulin-derived (n = 7). Two patients did not have immunoglobulin-derived amyloidosis despite the presence of a monoclonal gammopathy. Eight patients were diagnosed with two types concurrently, and one patient had an 11-year interval between diagnoses. Histopathological distribution of amyloid was variable with vascular, interstitial, and periosteal deposits seen. Identification of a second type was incidental in seven patients, but led to genetic counselling in one patient and therapy directed at both amyloid subtypes in another. With longer survival of myeloma and AL amyloidosis patients and increasing prevalence of patients with wild-type transthyretin amyloidosis due to an aging population, the phenomenon of two amyloid types in a single patient will be encountered more frequently. In light of revolutionary new therapies for transthyretin amyloidosis (patisiran, tafamidis, and inotersen), recognition of dual amyloid types is highly clinically relevant.

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center