eMedicine Specialties > Nephrology > The Kidney in Systemic Diseases

Amyloidosis, Familial Renal: Follow-up

Author: Helen J Lachmann, MB, MA, MD, MRCP, Senior Lecturer, Department of Medicine, National Amyloidosis Centre, Royal Free and University College Medical School, UK
Coauthor(s): Philip N Hawkins, MBBS, PhD, FRCP, Clinical Director of National Amyloidosis Centre, Professor, Department of Medicine, Royal Free and University College Medical School
Contributor Information and Disclosures

Updated: Oct 29, 2009

Follow-up

Further Outpatient Care

  • Ensure regular follow-up care with scrupulous attention to control of blood pressure.

Deterrence/Prevention

  • Genetic screening is possible for family members. Adequate counseling is a necessity because the age of onset and penetrance are highly variable and no specific treatment is available.
  • Prenatal diagnosis is technically possible but is of uncertain value because many individuals with these particular gene mutations have a normal life expectancy.

Complications

  • Acute and chronic renal failure
    • FRA due to variant lysozyme
    • FRA due to variant apolipoprotein AI
    • FRA due to variant apolipoprotein AII
    • FRA due to variant fibrinogen A alpha-chain
  • Acute and chronic liver failure
    • FRA due to variant apolipoprotein AI
    • Potentially FRA due to variant lysozyme and fibrinogen A alpha-chain (very rarely)
  • Restrictive cardiomyopathy - Some apolipoprotein AI and AII variants
  • GI hemorrhage/perforation - Lysozyme FRA
  • Progressive neuropathy - Some patients with apolipoprotein AI Gly26Arg and Leu178His

Prognosis

  • Many patients with FRA survive until the seventh decade or older, and most patients survive for at least 10 years after diagnosis.
  • Life expectancy has increased substantially since kidney and liver transplantations have been introduced as treatments for these diseases.
  • Liver transplantation is potentially curative in patients with fibrinogen A alpha-chain FRA and, possibly, in some patients with apolipoprotein AI amyloidosis.

Patient Education

  • Patients should be advised to avoid any potential systemic insults such as dehydration, nephrotoxic drugs, and avoidable general anesthetics or surgery.
  • Patients should not only be aware that first-degree relatives each have a 50% chance of carrying the gene but also that disease penetrance is highly variable.
  • For further information, see Mayo Clinic - Kidney Transplant Information.

Miscellaneous

Medicolegal Pitfalls

  • FRA may masquerade as acquired systemic amyloid. Because hereditary amyloidosis has a much better prognosis and the diagnosis has major implications for family support and clinical management, in some cases including the use of curative liver transplantation, its exclusion by DNA analysis is vital in all cases in which the amyloid type has not been definitively confirmed.
 


More on Amyloidosis, Familial Renal

Overview: Amyloidosis, Familial Renal
Differential Diagnoses & Workup: Amyloidosis, Familial Renal
Treatment & Medication: Amyloidosis, Familial Renal
Follow-up: Amyloidosis, Familial Renal
Multimedia: Amyloidosis, Familial Renal
References
Further Reading
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References

  1. von Hutten H, Mihatsch M, Lobeck H, et al. Prevalence and origin of amyloid in kidney biopsies. Am J Surg Pathol. Aug 2009;33(8):1198-205. [Medline].

  2. Stangou AJ, Banner NR, Hendry BM, et al. Hereditary fibrinogen A {alpha}-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation. Blood. Jul 24 2009;[Medline].

  3. Barreiros AP, Otto G, Ignee A, et al. Sonographic signs of amyloidosis. Z Gastroenterol. Aug 2009;47(8):731-9. [Medline].

  4. Koike H, Ando Y, Ueda M, et al. Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy. J Neurol Sci. Aug 24 2009;[Medline].

  5. Koike H, Morozumi S, Kawagashira Y, et al. The significance of carpal tunnel syndrome in transthyretin Val30Met familial amyloid polyneuropathy. Amyloid. Jul 15 2009;1-7. [Medline].

  6. Amarzguioui M, Mucchiano G, Haggqvist B, et al. Extensive intimal apolipoprotein A1-derived amyloid deposits in a patient with an apolipoprotein A1 mutation. Biochem Biophys Res Commun. Jan 26 1998;242(3):534-9. [Medline].

  7. Benson MD. Ostertag revisited: the inherited systemic amyloidoses without neuropathy. Amyloid. Jun 2005;12(2):75-87.

  8. Benson MD, Liepnieks J, Uemichi T, et al. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha- chain. Nat Genet. Mar 1993;3(3):252-5. [Medline].

  9. Booth DR, Bellotti V, Sunde M. Molecular mechanisms of amyloid fibril formation: the lysozyme model. Clin Sci. 1996;90 (Suppl 34):1P.

  10. Booth DR, Sunde M, Bellotti V, et al. Instability, unfolding and aggregation of human lysozyme variants underlying amyloid fibrillogenesis. Nature. Feb 27 1997;385(6619):787-93. [Medline].

  11. Booth DR, Tan SY, Booth SE, et al. A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis. QJM. Oct 1995;88(10):695-702. [Medline].

  12. Booth DR, Tan SY, Booth SE, et al. Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. J Clin Invest. Jun 15 1996;97(12):2714-21. [Medline].

  13. de Sousa MM, Vital C, Ostler D, et al. Apolipoprotein AI and transthyretin as components of amyloid fibrils in a kindred with apoAI Leu178His amyloidosis. Am J Pathol. Jun 2000;156(6):1911-7. [Medline].

  14. Gillmore JD, Booth DR, Madhoo S, et al. Hereditary renal amyloidosis associated with variant lysozyme in a large English family. Nephrol Dial Transplant. Nov 1999;14(11):2639-44. [Medline].

  15. Gillmore JD, Booth DR, Rela M, et al. Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family. QJM. May 2000;93(5):269-75. [Medline].

  16. Hamidi Asl K, Liepnieks JJ, Nakamura M, et al. A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. Biochem Biophys Res Commun. Apr 13 1999;257(2):584-8. [Medline].

  17. Hamidi Asl L, Fournier V, Billerey C, et al. Fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family. Amyloid. Dec 1998;5(4):279-84. [Medline].

  18. Hamidi Asl L, Liepnieks JJ, Hamidi Asl K, et al. Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1. Am J Pathol. Jan 1999;154(1):221-7. [Medline].

  19. Hamidi Asl L, Liepnieks JJ, Uemichi T, et al. Renal amyloidosis with a frame shift mutation in fibrinogen aalpha- chain gene producing a novel amyloid protein. Blood. Dec 15 1997;90(12):4799-805. [Medline].

  20. Hawkins PN. Studies with radiolabelled serum amyloid P component provide evidence for turnover and regression of amyloid deposits in vivo. Clin Sci (Colch). Sep 1994;87(3):289-95. [Medline].

  21. Hawkins PN, Myers MJ, Epenetos AA, et al. Specific localization and imaging of amyloid deposits in vivo using 123I-labeled serum amyloid P component. J Exp Med. Mar 1 1988;167(3):903-13. [Medline].

  22. Holmgren G, Ericzon BG, Groth CG, et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet. May 1 1993;341(8853):1113-6. [Medline].

  23. Jones LA, Harding JA, Cohen AS. New USA family has apolipoprotein AI (Arg26) variant. Amyloid and Amyloidosis. 1991;385-8.

  24. Lachmann HJ, Booth DR, Booth SE, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. Jun 6 2002;346(23):1786-91. [Medline].

  25. Nichols WC, Dwulet FE, Liepnieks J, Benson MD. Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. Biochem Biophys Res Commun. Oct 31 1988;156(2):762-8. [Medline].

  26. Obici L, Bellotti V, Mangione P, et al. The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93- residue N-terminal polypeptide. Am J Pathol. Sep 1999;155(3):695-702. [Medline].

  27. Ostertag B. Demonstration einer eigenartigen familiaren paraamyloidose. Zentralbl Aug Pathol. 1932;56:253-4.

  28. Pepys MB, Hawkins PN, Booth DR, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature. Apr 8 1993;362(6420):553-7. [Medline].

  29. Persey MR, Booth DR, Booth SE. A new deletion mutation of the apolipoprotein AI gene causing hereditary amyloidosis. Clin Sci. 1996;90 (Suppl 34):33.

  30. Persey MR, Booth DR, Booth SE, et al. Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I. Kidney Int. Feb 1998;53(2):276-81. [Medline].

  31. Puchtler H, Sweat F, Levine M. On the binding of Congo red by amyloid. J Histochem Cytochem. 1962;10:355-64.

  32. Rydh A, Suhr O, Hietala SO, et al. Serum amyloid P component scintigraphy in familial amyloid polyneuropathy: regression of visceral amyloid following liver transplantation. Eur J Nucl Med. Jul 1998;25(7):709-13. [Medline].

  33. Sherif AM, Refaie AF, Sobh MA. Long-term outcome of live donor kidney transplantation for renal amyloidosis. Am J Kidney Dis. Aug 2003;42(2):370-5. [Medline].

  34. Soutar AK, Hawkins PN, Vigushin DM, et al. Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. Proc Natl Acad Sci U S A. Aug 15 1992;89(16):7389-93. [Medline].

  35. Uemichi T, Liepnieks JJ, Alexander F, Benson MD. The molecular basis of renal amyloidosis in Irish-American and Polish- Canadian kindreds. QJM. Oct 1996;89(10):745-50. [Medline].

  36. Uemichi T, Liepnieks JJ, Benson MD. Hereditary renal amyloidosis with a novel variant fibrinogen. J Clin Invest. Feb 1994;93(2):731-6. [Medline].

  37. Uemichi T, Liepnieks JJ, Gertz MA, Benson MD. Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis. Amyloid. Sep 1998;5(3):188-92. [Medline].

  38. Uemichi T, Liepnieks JJ, Yamada T, et al. A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. Blood. May 15 1996;87(10):4197-203. [Medline].

  39. Zeldenrust S, Gertz M, Uemichi T. Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. Transplantation. Feb 27 2003;75(4):560-1. [Medline].

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Keywords

familial renal amyloidosis, amyloidosis, amyloid, familial amyloidosis, amyloidosis cardiac, amyloidosis disease, familial systemic amyloidosis, hereditary nonneuropathic amyloidosis, hereditary systemic amyloidosis, hereditary renal amyloidosis, Ostertag-type amyloidosis, apolipoprotein A-I amyloidosis, lysozyme amyloidosis, fibrinogen A alpha-chain amyloidosis

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Contributor Information and Disclosures

Author

Helen J Lachmann, MB, MA, MD, MRCP, Senior Lecturer, Department of Medicine, National Amyloidosis Centre, Royal Free and University College Medical School, UK
Helen J Lachmann, MB, MA, MD, MRCP is a member of the following medical societies: Royal College of Physicians
Disclosure: Nothing to disclose.

Coauthor(s)

Philip N Hawkins, MBBS, PhD, FRCP, Clinical Director of National Amyloidosis Centre, Professor, Department of Medicine, Royal Free and University College Medical School
Disclosure: Nothing to disclose.

Medical Editor

Donald A Feinfeld, MD, FACP, FASN, Consulting Staff, Division of Nephrology & Hypertension, Beth Israel Medical Center
Donald A Feinfeld, MD, FACP, FASN is a member of the following medical societies: American Academy of Clinical Toxicology, American Society of Hypertension, American Society of Nephrology, and National Kidney Foundation
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

George R Aronoff, MD, Director, Professor, Departments of Internal Medicine and Pharmacology, Section of Nephrology, Kidney Disease Program, University of Louisville School of Medicine
George R Aronoff, MD is a member of the following medical societies: American Federation for Medical Research, American Society of Nephrology, Kentucky Medical Association, and National Kidney Foundation
Disclosure: Nothing to disclose.

CME Editor

Rebecca J Schmidt, DO, FACP, FASN, Professor of Medicine, Section Chief, Department of Medicine, Section of Nephrology, West Virginia University School of Medicine
Rebecca J Schmidt, DO, FACP, FASN is a member of the following medical societies: American College of Osteopathic Internists, American College of Physicians, American Medical Association, American Society of Nephrology, International Society of Nephrology, National Kidney Foundation, Renal Physicians Association, and West Virginia State Medical Association
Disclosure: Abbott Grant/research funds Speaking and teaching; Genzyme Honoraria Consulting; Amgen Honoraria Speaking and teaching; Ortho Biotech Honoraria Speaking and teaching

Chief Editor

Vecihi Batuman, MD, FACP, FASN, Professor of Medicine, Section of Nephrology-Hypertension, Tulane University School of Medicine; Chief, Medicine Service, Southeast Louisiana Veterans Health Care System
Vecihi Batuman, MD, FACP, FASN is a member of the following medical societies: American College of Physicians, American Society of Hypertension, American Society of Nephrology, and International Society of Nephrology
Disclosure: Nothing to disclose.

 
 
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