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Transthyretin-related amyloidosis. Congo Red staining of a cardiac biopsy specimen containing amyloid, viewed under polarized light.

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Known TTR Variants (adapted from Benson^[14] and Connors et al^[6])
Table. Diagnostic tests for transythyretin (TTR) amyloidosis

Known TTR Variants (adapted from Benson ^[14]and Connors et al ^[6])

Variant	Geographic Focus (Ethnic Origin)	Organs Involved
Gly6Ser	Caucasian	None
Cys10Arg	United States (Hungarian)	H, PN, AN, E
Leu12Pro	United Kingdom	CNS, AN, L, LM
Asp18Gly	United States (Hungarian)	CNS, LM
Met13Ile	Germany	None
Asp18Asn	United States	H
Asp18Glu	South America	AN, PN
Asp18Gly	Hungary	LM
Val20Ile	United States, Germany	H, CL
Ser23Asn	United States (Portuguese)	H, E, PN
Pro24Ser	United States	PN, H, CL
Ala25Ser	United States	PN, H, CL
Ala25Thr	Japan	CNS, PN
Val28Met	Portugal	AN, PN
Val30Met	Argentina, Brazil, China, Finland, France, Germany, Greece, Italy, Japan, Portugal, Sweden, Turkey, United States	PN, AN, E, LM
Val30Ala	United States (German)	AN, H
Val30Leu	Japan, United States	PN, AN, H, K
Val30Gly	United States	E, CNS, LM
Phe33Cys	United States	CL, E, K, H
Phe33Ile	Israel (Polish, Ashkenazi Jewish)	PN, E
Phe33Leu	United States (Polish, Lithuanian)	PN, AN, H
Phe33Val	United Kingdom, Japan, China	PN
Arg34Thr	Italy	PN, H
Lys35Asn	France	PN, H, AN
Ala36Pro	Greece, Italy, United States (Jewish)	PN, E, CNS, CL
Asp38Ala	Japan	H, PN, AN
Trp41Leu	United States (Russian)	E, PN
Glu42Gly	Japan, Russia, United States	PN, AN, H
Glu42Asp	France	H
Phe44Ser	United States, Japan	PN, H, AN, E
Ala45Thr	Italy, Ireland, United States	H
Ala45Asp	United States , Ireland, Italy	PN, H
Ala45Ser	Sweden	H
Gly47Ala	Italy, Germany, France	PN, H, AN
Gly47Arg	Japan	PN, AN
Gly47Val	Sri Lanka	H, AN, PN, CL
Gly47Glu	Germany, Italy, Turkey, United States	H, K, PN, AN
Thr49Ala	France, Italy (Sicily)	PN, CL, H
Thr49Ile	Japan	PN, H
Thr49Pro	United States	H
Ser50Arg	Japan, France, Italy	PN, H, AN
Ser50Ile	Japan	PN, H, AN
Glu51Gly	United States	H
Ser52Pro	United Kingdom	PN, AN, H, K
Gly53Glu	Basque	CNS, LM, PN, H
Glu54Gly	United Kingdom	PN, E, AN
Glu54Lys	Japan	PN, AN, H
Leu55Pro	United States (Dutch, German), Taiwan	PN, E, H, AN
Leu55Arg	Germany	PN, LM
Leu55Gln	United States (Spanish)	AN, E, PN
Leu58His	United States, Germany	H, CL
His56Arg	United States	H
Leu58Arg	Japan	AN, E, CL, H
Thr59Lys	Italy, United States (Chinese)	H, PN, AN
Thr60Ala	Ireland, United States (Appalachian), Australia, Germany, United Kingdom, Japan	H, PN, GI, CL
Glu61Lys	Japan	PN
Phe64Leu	Italy, United States	PN, H, CL
Phe64Ser	Canada (Italian), United Kingdom	CNS, PN, E, LM
Ile68Leu	Germany, United States	H
Tyr69His	United States, Scotland, Canada	E, LM
Tyr69Ile	Japan	CL, H, AN
Lys70Asn	United States, Germany	CL, E, PN
Val71Ala	France, Spain	PN, E , CL
Ile73Val	Bangladesh	PN, AN
Asp74His	Germany	None
Ser77Tyr	Germany, France, United Kingdom	PN, H, K
Ser77Phe	France	PN, AN, H
Tyr78Phe	France (Italian)	PN, CL, S
Ala81Thr	United States	H
Ile84Ser	United States (Swiss), Hungary	H, CL, E, LM
Ile84Asn	Italy, United States	E, H, CL
Ile84Thr	Germany, United Kingdom	PN, AN, H
Glu89Gln	Italy/Sicily	PN, H, CL
Glu89Lys	United States	PN, H, AN
His90Asn	Portugal, Germany	None
Ala91Ser	France	PN, H, CL, AN
Gln92Lys	Japan	H
Ala97Gly	Japan	H, PN
Ala97Ser	China, France, Taiwan	PN, H
Gly101Ser	Japan	None
Arg103Ser	United States	H
Pro102Arg	Germany	None
Arg104Cys	United States	None
Arg104His	Japan, United States (Chinese)	None
Ile107Met	Germany	H, PN
Ile107Val	United States(German), Japan	PN, H, CL
Ala109Val	United States	None
Ala108Ala	Portugal	None
Ala109Thr	Portugal	None
Ala109Ser	Japan	PN, AN
Leu111Met	Denmark	H, CL
Ser112Ile	Italy	PN, H
Tyr114Cys	Holland, Japan	PN, E, H, LM, AN, CNS
Tyr114His	Japan	CL, S
Tyr116Ser	France	PN, CL, AN
Thr119Met	United States, Portugal	None
Ala120Ser	Afro-Caribbean	PN, H, AN
Val122Ile	Africa, United States, Portugal	H
Val122Ala	United States (Alaska), United Kingdom	PN, H, E
Deletion of 122Val	Ecuador, United States, Spain	PN, CNS, GI, CL, H
Pro125Ser	Italy	None

Table. Diagnostic tests for transythyretin (TTR) amyloidosis

Method	Material	Sensitivity	Specificity	Purpose
Pathologic
Congo Red	Tissue	Medium/High	High	Detecting amyloid deposits
BSB, FSB dyes	Tissue	High	Medium	Detecting amyloid deposits
Electron microscopy	Tissue	Medium	High	Confirming amyloid fibrils
Immunohistochemistry with anti-TTR antibodies	Tissue	High	Medium/High	Detecting TTR deposits
Genetic
PCR-RFLP	DNA	High	High	Detecting predicted mutations in the TTR gene
Real-time PCR (melting curve analysis)	DNA	High	High	Detecting predicted mutations in the TTR gene
PCR-SSCP	DNA	Medium	Medium	Screening for unknown mutations in the TTR gene
Sequencing	DNA	High	High	Detecting unknown mutations in the TTR gene
Mass Spectrometry (MS)
MALDI-TOF MS, ESI-MS	Serum protein	Medium/High	Medium	Detecting variant TTR
FT-ICR MS	Serum protein	Medium/High	Medium/High	Detecting variant TTR
SELDI-TOF MS	Serum protein	Medium/High	Medium	Detecting variant TTR
LC-MS/MS	Tissue	Medium	Medium	Identifying precursor proteins of amyloid fibrils, including variant TTR

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Author

Jefferson R Roberts, MD Chief of Rheumatology Service, Tripler Army Medical Center; Assistant Clinical Professor of Medicine, Uniformed Services University of the Health Sciences

Jefferson R Roberts, MD is a member of the following medical societies: American College of Physicians, American College of Rheumatology, Society for Simulation in Healthcare

Disclosure: Nothing to disclose.

Coauthor(s)

Mary L Lan, MD, MPH Resident Physician, Department of Medicine, Tripler Army Medical Center

Disclosure: Nothing to disclose.

Victoria M F Mank, MD Resident Physician, Department of Internal Medicine, Tripler Army Medical Center

Victoria M F Mank, MD is a member of the following medical societies: American College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Lawrence H Brent, MD Associate Professor of Medicine, Sidney Kimmel Medical College of Thomas Jefferson University; Chair, Program Director, Department of Medicine, Division of Rheumatology, Albert Einstein Medical Center

Lawrence H Brent, MD is a member of the following medical societies: American Association for the Advancement of Science, American Association of Immunologists, American College of Physicians, American College of Rheumatology

Disclosure: Stock ownership for: Johnson & Johnson.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Robert E Wolf, MD, PhD Professor Emeritus, Department of Medicine, Louisiana State University School of Medicine in Shreveport; Chief, Rheumatology Section, Medical Service, Overton Brooks Veterans Affairs Medical Center

Robert E Wolf, MD, PhD is a member of the following medical societies: American College of Rheumatology, Arthritis Foundation, Society for Leukocyte Biology

Disclosure: Nothing to disclose.

Aaron Pumerantz, DO Fellow Instructor, Department of Medicine, Uniformed Services University of the Health Sciences

Aaron Pumerantz, DO is a member of the following medical societies: American College of Physicians, American Medical Association, American Osteopathic Association

Disclosure: Nothing to disclose.

Christopher F Middleman, MD Staff Preceptor, Internal Medicine Clinic, Tripler Army Medical Center; Battalion Surgeon, US Army

Christopher F Middleman, MD is a member of the following medical societies: American College of Physicians, American Medical Association

Disclosure: Nothing to disclose.

Gregory M Sprowl, MD Resident Physician, Department of Internal Medicine, Tripler Army Medical Center

Gregory M Sprowl, MD is a member of the following medical societies: American College of Physicians

Disclosure: Nothing to disclose.

Acknowledgements

Daniel R Jacobson, MD Professor of Medicine, Boston University School of Medicine; Chief of Oncology, Veterans Affairs Boston Healthcare System

Disclosure: Nothing to disclose.

Mariana J Kaplan, MD Assistant Professor, Department of Internal Medicine, Division of Rheumatology, University of Michigan Medical School

Disclosure: Nothing to disclose.

Seetha U Monrad, MD Clinical Instructor, Department of Internal Medicine, Division of Rheumatology, University of Michigan Medical School

Seetha U Monrad is a member of the following medical societies: American College of Rheumatology

Disclosure: Nothing to disclose.

Robert John Oglesby, MD Chief of Rheumatology Service, Department of Medicine, Walter Reed Army Medical Center; Associate Professor of Medicine, Uniformed Services University of the Health Sciences

Robert John Oglesby, MD is a member of the following medical societies: American College of Physicians, American College of Rheumatology, and Arthritis Foundation

Disclosure: Nothing to disclose.

Sections Transthyretin-Related Amyloidosis
Overview
Presentation
DDx
Workup
Treatment
Medication
Follow-up
Questions & Answers
Tables
References

Transthyretin-Related Amyloidosis Questions & Answers

References

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