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The Hereditary Amyloidoses

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Amyloid and Related Disorders

Part of the book series: Current Clinical Pathology ((CCPATH))

Abstract

Systemic amyloidosis can be caused by mutations in a number of plasma proteins. Some of these plasma proteins have many mutations which lead to amyloid fibril formation although some mutations in these same proteins appear to be non-amyloid initiators. Each of the hereditary amyloidoses is an autosomal dominant disease with only one copy of a mutant allele necessary for the expression of the clinical disease. While many of the hereditary forms of amyloidosis share clinical features of the systemic disease, there are many variations of the theme which make diagnosis and considerations of treatment, either specific or nonspecific, to be challenging to the clinician.

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References

  1. Sipe JD, Benson MD, Buxbaum JN, et al. Amyloid fibril protein nomenclature: 2010 recommendations from the nomenclature committee of the International Society of Amyloidosis. Amyloid. 2010;17(3–4):101–4.

    Article  CAS  PubMed  Google Scholar 

  2. Benson MD. Other systemic forms of amyloidosis. In: Gertz MA, Rajkumar SV, editors. Amyloidosis: diagnosis and treatment, Chapter 15. New York, Dordrecht, Heidelberg, London: Humana Press—Springer Science + Business Media, LLC; 2010. p. 205–25.

    Chapter  Google Scholar 

  3. Zeldenrust SR, Benson MD. Familial and senile amyloidosis caused by transthyretin. In: Ramirez-Alvarado M, Kelly J, Dobson C, editors. Protein misfolding diseases: current and emerging principles and therapies, Part IV, Chap. 36. Hoboken, NJ: Wiley; 2010. p. 795–815.

    Chapter  Google Scholar 

  4. Robbins J. Thyroxine-binding proteins. Prog Clin Biol Res. 1976;5:331–55.

    CAS  PubMed  Google Scholar 

  5. Kanda Y, Goodman DS, Canfield RE, Morgan FJ. The amino acid sequence of human plasma prealbumin. J Biol Chem. 1974;249(21):6796–805.

    CAS  PubMed  Google Scholar 

  6. Blake CCF, Geisow MJ, Oatley SJ. Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 Å (angstrom). J Mol Biol. 1978;121(3):339–56.

    Article  CAS  PubMed  Google Scholar 

  7. Andrade C. A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952;75(3):408–27.

    Article  CAS  PubMed  Google Scholar 

  8. Andrade C, Araki S, Block WD, et al. Hereditary amyloidosis. Arthritis Rheum. 1970;13(6):902–15.

    Article  CAS  PubMed  Google Scholar 

  9. Holmgren G, Bergstrom S, Drugge U, et al. Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet. 1992;41(1):39–41.

    Article  CAS  PubMed  Google Scholar 

  10. Mahloudji M, Teasdall RD, Adamkiewicz JJ, Hartmann WH, Lambird PA, McKusick VA. The genetic amyloidoses. With particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type). Medicine. 1969;48(1):1–37.

    Article  CAS  PubMed  Google Scholar 

  11. Benson MD, Wallace MR, Tejada E, Baumann H, Page B. Hereditary amyloidosis. Description of a new American kindred with late onset cardiomyopathy. Arthritis Rheum. 1987;30(2):195–200.

    Article  CAS  PubMed  Google Scholar 

  12. Wallace MR, Dwulet FE, Williams EC, Conneally PM, Benson MD. Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. J Clin Invest. 1988;81(1):189–93.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  13. Falls HF, Jackson JH, Carey JG, Rukavina JG, Block WD. Ocular manifestations of hereditary primary systemic amyloidosis. Arch Ophthalmol. 1955;54(5):660–4.

    Article  CAS  Google Scholar 

  14. Gorevic PD, Prelli FC, Wright J, Pras M, Frangione B. Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. J Clin Invest. 1989;83(3):836–43.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  15. Ng B, Connors LH, Davidoff R, Skinner M, Falk RH. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med. 2005;165(12):1425–9.

    Article  PubMed  Google Scholar 

  16. Benson MD, Kincaid JC. Invited review: the molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;36(4):411–23.

    Article  CAS  PubMed  Google Scholar 

  17. Benson MD, Breall J, Cummings OW, Liepnieks JJ. Biochemical characterization of amyloid by endomyocardial biopsy. Amyloid. 2009;16(1):9–14.

    Article  CAS  PubMed  Google Scholar 

  18. Vrana JA, Gamez JD, Madden BJ, Theis JD, Bergen 3rd HR, Dogan A. Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood. 2009;114(24):4957–9.

    Article  CAS  PubMed  Google Scholar 

  19. Benson MD. Amyloidosis. In: Scriver CR, Beaudet al, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, editors. The metabolic and molecular bases of inherited disease, Part 22, Chap. 209, Connective tissue, vol. 4. 8th ed. New York: McGraw Hill Book Co; 2001. p. 5345–78.

    Google Scholar 

  20. Van Allen MW, Frohlich JA, Davis JR. Inherited predisposition to generalized amyloidosis. Neurology. 1969;19(1):10–25.

    Article  PubMed  Google Scholar 

  21. Nichols WC, Dwulet FE, Liepnieks J, Benson MD. Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. Biochem Biophys Res Commun. 1988;156(2):762–8.

    Article  CAS  PubMed  Google Scholar 

  22. Nichols WC, Gregg RE, Brewer HB, Benson MD. A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. Genomics. 1990;8(2):318–23.

    Article  CAS  PubMed  Google Scholar 

  23. Hamidi Asl K, Liepnieks JJ, Nakamura M, Parker F, Benson MD. A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. Biochem Biophys Res Commun. 1999;257(2):584–8.

    Article  CAS  PubMed  Google Scholar 

  24. Obici L, Palladini G, Giorgetti S, et al. Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. Gastroenterology. 2004;126(5):1416–22.

    Article  PubMed  Google Scholar 

  25. Hamidi Asl L, Liepnieks JJ, Hamidi Asl K, et al. Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein AI. Am J Pathol. 1999;154(1):221–7.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  26. Uemichi T, Liepnieks JJ, Benson MD. Hereditary renal amyloidosis with a novel variant fibrinogen. J Clin Invest. 1994;93(2):731–6.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  27. Uemichi T, Liepnieks JJ, Yamada T, Gertz MA, Bang N, Benson MD. A frame shift mutation in the fibrinogen Aα-chain gene in a kindred with renal amyloidosis. Blood. 1996;87(10):4197–203.

    CAS  PubMed  Google Scholar 

  28. Meretoja J. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. Ann Clin Res. 1969;1(4):314–24.

    CAS  PubMed  Google Scholar 

  29. Maury CPJ, Kere J, Tolvanen R, de la Chapelle A. Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. Genomics. 1992;13(3):902–3.

    Article  CAS  PubMed  Google Scholar 

  30. de la Chapelle A, Tolvanen R, Boysen G, et al. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet. 1992;2(2):157–60.

    Article  PubMed  Google Scholar 

  31. Pepys MB, Hawkins PN, Booth DR, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature. 1993;362(6420):553–7.

    Article  CAS  PubMed  Google Scholar 

  32. Yazaki M, Farrell SA, Benson MD. A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis. Kidney Int. 2003;63(5):1652–7.

    Article  CAS  PubMed  Google Scholar 

  33. Benson MD, Liepnieks JJ, Yazaki M, et al. A new human hereditary amyloidosis: the result of a stopcodon mutation in the apolipoprotein AII gene. Genomics. 2001;72(3):272–7.

    Article  CAS  PubMed  Google Scholar 

  34. Magy N, Liepnieks JJ, Yazaki M, Kluve-Beckerman B, Benson MD. Renal transplantation for apolipoprotein AII amyloidosis. Amyloid. 2003;10(4):224–8.

    Article  CAS  PubMed  Google Scholar 

  35. Gudmundsson G, Hallgrimsson J, Jonasson TA, Bjarnason O. Hereditary cerebral hemorrhage with amyloidosis. Brain. 1972;95(2):387–404.

    Article  CAS  PubMed  Google Scholar 

  36. Ghiso J, Pons-Estel B, Frangione B. Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases. Biochem Biophys Res Commun. 1986;136(2):548–54.

    Article  CAS  PubMed  Google Scholar 

  37. Benson MD, James S, Scott K, Liepnieks JJ, Kluve-Beckerman B. Leukocyte chemotactic factor 2: a novel renal protein. Kidney Int. 2008;74(2):218–22.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Van Nuys Medical Science Building, 635 Barnhill Drive, MS-128, Indianapolis, IN, 46202-5126, USA

    Merrill D. Benson MD

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  1. Merrill D. Benson MD
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Correspondence to Merrill D. Benson MD .

Editor information

Editors and Affiliations

  1. Department of Pathology, Loyola University Medical Center, Maywood, Illinois, USA

    Maria M. Picken

  2. Department of Pathology, LSU Health Shreveport, Shreveport, Louisiana, USA

    Guillermo A. Herrera

  3. Department of Pathology and Laboratory Medicine, Department of Pathology and Laboratory Medicine, New York, New York, USA

    Ahmet Dogan

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Benson, M.D. (2015). The Hereditary Amyloidoses. In: Picken, M., Herrera, G., Dogan, A. (eds) Amyloid and Related Disorders. Current Clinical Pathology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-19294-9_5

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  • DOI: https://doi.org/10.1007/978-3-319-19294-9_5

  • Publisher Name: Humana Press, Cham

  • Print ISBN: 978-3-319-19293-2

  • Online ISBN: 978-3-319-19294-9

  • eBook Packages: MedicineMedicine (R0)

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