Transthyretin-Related Amyloidosis Medication

  • Author: Jefferson R Roberts, MD; Chief Editor: Emmanuel C Besa, MD   more...
 
Updated: Aug 15, 2011
 
 

Medication Summary

  • Liver transplantation remains the only effective therapy in FAP.
  • Currently, no pharmacologic therapy is readily available for ATTR.
  • Studies looking at prevention of amyloid formation and disruption of existent amyloid fibrils are currently being conducted.[22] In patients with neuropathy, diflunisal, an NSAID, is being investigated as a potential therapeutic option. It binds to the thyroxine-binding sites of the TTR tetramer, thereby stabilizing the protein and counteracting its tendency to move to a β-pleated amyloid configuration.[23, 24]
  • Diuretics remain the mainstay of therapy for amyloid-related congestive heart failure (whether ATTR, AL, or, rarely, another type).
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Contributor Information and Disclosures
Author

Jefferson R Roberts, MD  Staff Physician, Department of Rheumatology, Walter Reed Army Medical Center; Assistant Professor of Medicine, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine

Jefferson R Roberts, MD is a member of the following medical societies: American College of Physicians and American College of Rheumatology

Disclosure: Nothing to disclose.

Coauthor(s)

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.

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, and American Osteopathic Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Robert E Wolf, MD, PhD  Professor Emeritus, Department of Medicine, Louisiana State University Health Sciences Center at Shreveport; Chief, Rheumatology Section, Medical Service, Overton Brooks Veterans Administration Medical Center of Shreveport

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

Disclosure: Nothing to disclose.

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

Disclosure: Medscape Salary Employment

Lawrence H Brent, MD  Associate Professor of Medicine, Jefferson 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, and American College of Rheumatology

Disclosure: Genentech Honoraria Speaking and teaching; Genentech Grant/research funds Other; Amgen Honoraria Speaking and teaching; Pfizer Honoraria Speaking and teaching; Abbott Immunology Honoraria Speaking and teaching; Takeda Honoraria Speaking and teaching; UCB Speaking and teaching; Omnicare Consulting fee Consulting; Centocor Consulting fee Consulting

Alex J Mechaber, MD, FACP  Senior Associate Dean for Undergraduate Medical Education, Associate Professor of Medicine, University of Miami Miller School of Medicine

Alex J Mechaber, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, and Society of General Internal Medicine

Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD  Professor, Department of Medicine, Division of Hematologic Malignancies, 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 College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous coauthors Seetha U Monrad, MD; Mariana J Kaplan, MD; and Daniel R Jacobson, MD, to the development and writing of this article.

References

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  21. Lauro A, Diago Usò T, Masetti M, Di Benedetto F, Cautero N, De Ruvo N, et al. Liver transplantation for familial amyloid polyneuropathy non-VAL30MET variants: are cardiac complications influenced by prophylactic pacing and immunosuppressive weaning?. Transplant Proc. Jun 2005;37(5):2214-20. [Medline].

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Congo Red staining of a cardiac biopsy specimen containing amyloid, viewed under polarized light.
Table 1
VariantGeographic Focus (Ethnic Origin)Organs Involved
Gly6SerCaucasianNone
Cys10ArgUnited States (Hungarian)H, PN, AN, E
Leu12ProUnited KingdomCNS, AN, L, LM
Asp18GlyUnited States (Hungarian)CNS, LM
Met13IleGermanyNone
Asp18AsnUnited StatesH
Asp18GluSouth AmericaAN, PN
Val20IleUnited States, GermanyH, CL
Ser23AsnUnited States (Portuguese)H, E, PN
Pro24SerUnited StatesPN, H, CL
Ala25SerUnited StatesH, PN
Ala25ThrJapanCNS, PN
Val28MetPortugalAN, PN
Val30MetArgentina, Brazil, China, Finland, France, Germany, Greece, Italy, Japan, Portugal, Sweden, Turkey, United StatesPN, AN, E, LM
Val30AlaUnited States (German)AN, H
Val30LeuJapan, United StatesPN, AN, H, K
Val30GlyUnited StatesE, CNS, LM
Phe33CysUnited StatesCL, E, K, H
Phe33IleIsrael (Polish, Ashkenazi Jewish)PN, E
Phe33LeuUnited States (Polish, Lithuanian)PN, AN
Arg34ThrItalyPN, H
Lys35AsnFrancePN, H, AN
Ala36ProGreece, Italy, United States (Jewish)PN, E, CNS, CL
Asp38AlaJapanH, PN, AN
Trp41LeuUnited States (Russian)E
Glu42GlyJapan, Russia, United StatesPN, AN
Glu42AspFranceH
Phe44SerUnited States, JapanPN, H, AN, E
Ala45ThrItaly, Ireland, United StatesH
Ala45AspUnited States , Ireland, ItalyPN, H
Ala45SerSwedenH
Gly47AlaItaly, Germany, FrancePN, H, AN
Gly47ArgJapanPN, AN
Gly47ValSri LankaH, AN, PN, CL
Gly47GluGermany, ItalyH, K, PN
Thr49AlaFrance, Italy (Sicily)PN, CL, H
Thr49IleJapanPN, H
Thr49ProUnited StatesH
Ser50ArgJapan, France, ItalyPN, H, AN
Ser50IleJapanPN, H, AN
Glu51GlyUnited StatesH
Ser52ProUnited KingdomPN, AN, H, K
Gly53GluBasqueCNS, LM, PN
Glu54GlyUnited KingdomPN, E, AN
Glu54LysJapanPN, AN, H
Leu55ProUnited States (Dutch, German), TaiwanPN, E, H, AN
Leu55ArgGermanyPN, LM
Leu55GlnUnited States (Spanish)AN, E, PN
Leu58HisUnited States, GermanyH, CL
His56ArgUnited StatesH
Leu58ArgJapanAN, E, CL, H
Thr59LysItaly, United States (Chinese)H, PN, AN
Thr60AlaIreland, United States, Australia, Germany, United Kingdom, JapanH, PN, GI, CL
Glu61LysJapanPN
Phe64LeuItaly, United StatesPN, H, CL
Phe64SerCanada (Italian), United KingdomCNS, PN, E, LM
Ile68LeuGermany, United StatesH
Tyr69HisUnited States, ScotlandE
Tyr69IleJapanCL, H
Lys70AsnUnited States, GermanyCL, E, PN
Val71AlaFrance, SpainPN, E , CL
Ile73ValBangladeshPN, AN
Asp74HisGermanyNone
Ser77TyrGermany, France, United KingdomPN, H, K
Ser77PheFrancePN, AN
Tyr78PheFrance (Italian)PN, CL, S
Ala81ThrUnited StatesH
Ile84SerUnited States (Swiss), HungaryH, CL, E, LM
Ile84AsnItaly, United StatesE, H, CL
Ile84ThrGermany, United KingdomPN, AN, H
Glu89GlnSicilyPN, H, CL
Glu89LysUnited StatesPN, H, AN
His90AsnPortugal, GermanyNone
Ala91SerFrancePN, H, CL, AN
Arg104CysUnited StatesNone
Arg103SerUnited StatesH
Pro102ArgGermanyNone
Ala97SerChina, France, TaiwanH,PN
Gln92LysJapanH
Ala97GlyJapanPN,H
Gly101SerJapanNone
Arg104HisJapan, United States (Chinese)None
Ile107MetGermanyH, PN
Ile107ValUnited States(German), JapanPN, H, CL
Ala109ValUnited StatesNone
Ala108AlaPortugalNone
Ala109ThrPortugalNone
Ala109SerJapanPN
Leu111MetDenmarkH, CL
Tyr114CysHollandPN, E, H, LM, AN, CNS
Tyr114HisJapanCL
Tyr116SerFrancePN, CL, AN
Thr119MetUnited States, PortugalNone
Ala120SerAfro-CaribbeanPN, H, AN
Val122IleAfrica, United States, PortugalH
Val122AlaUnited States (Alaska), United KingdomPN, H, E
Deletion of 122ValEcuador, United StatesPN, CNS, GI, CL, H
Pro125SerItalyNone
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