Lysozyme amyloid related amyloidosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Homa Najafi, M.D.[2]

Synonyms and keywords:Lysozyme amyloidosis, ALys, Hereditory amyloidosis, autosomal dominant amyloidosis, Hereditary lysozyme amyloidosis, Familial amyloid nephropathy due to lysozyme variant, Familial renal amyloidosis due to lysozyme variant, Hereditary amyloid nephropathy due to lysozyme variant, Hereditary renal amyloidosis due to lysozyme variant

Overview

Lysozyme amyloid related amyloidosis is one of the subtypes of familial amyloidosis, it is associated with four mutations include, Ile56Thr, Asp67His, Trp64Arg, and Phe57Ile. It is an extremely rare disease and it commonly affects individuals in their third to fourth decades of life. Manifestation of the disease are based on which organs are involved, and include GI symptoms, renal impairment, sicca syndrome, lymphadenopathy, splenomegaly, and petechiae or purpura. The diagnosis of lysozyme amyloid related amyloidosis is based on the family history, histologic examination and amino acid sequencing. There is no treatment for lysozyme amyloid related amyloidosis; the mainstay of therapy is supportive care. Organ transplant could be done as palliative treatment.

Historical Perspective

Classification

Lysozyme amyloid related amyloidosis is one of the subtypes of familial amyloidosis. Familiar amyloidosis may be classified according to the type of mutant protein into 6 subtypes:[5][6][7]

 
 
 
 
 
 
 
 
 
 
 
 
 
Familial amyloidosis subtypes
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Transthyretin (TTR)
 
Apolipoprotein AI
 
Gelsolin
 
Lysozyme
 
Cystatin C
 
Fibrinogen Aa-chain
 
Apolipoprotein AII

Pathophysiology

Genetics

There are four genetic mutations which are associated with lysozyme amyloid related amyloidosis. include:[4]

  • Ile56Thr
  • Asp67His
  • Trp64Arg
  • Phe57Ile

Causes

Common cause of lysozyme amyloid related amyloidosis is genetic mutations.[13][5][6][14]

Differentiating lysozyme amyloid related amyloidosis from Other Diseases

Lysozyme amyloid related amyloidosis must be differentiated from other types of familial amyloidosis and other diseases that mimic amyloidosis and may present as organ dysfunction, specifically, nephrotic syndrome leading to renal failure, cardiac failure and polyneuropathy.

For more information on the differential diagnosis of lysozyme amyloid related amyloidosis click here

Epidemiology and Demographics

  • Lysozyme amyloid related amyloidosis commonly affects individuals in their third to fourth decades of life.[5]

Risk Factors

The most potent risk factor in the development of lysozyme amyloid related amyloidosis is positive familial history. Other risk factors include older age, male gender, and African-American race.[17][3][18]

Screening

There is insufficient evidence to recommend routine screening for lysozyme amyloid related amyloidosis.

Natural History, Complications, and Prognosis

Note: Because the risk of bleeding in this patients, liver biopsy should not be performed in suspected ones.[20]

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Physical examination of patients with lysozyme amyloid related amyloidosis is usually remarkable for renal impairment, petechiae, purpura, lymphadenopathy, and splenomegaly.[26][24][4][25][27][28]

Laboratory Findings

  • Common tests that are abnormal in renal function tests including serum creatinine, urinary protein, glomerular filtration rate, and albumin to creatinine ratio in the urine.

Electrocardiogram

Although, cardiac involvement is so rare in lysozyme amyloid related amyloidosis, electrocardiography may be done for cardiac analysis..

X-ray

There are no x-ray findings associated with lysozyme amyloid related amyloidosis.

Echocardiography or Ultrasound

Although, cardiac involvement is so rare in lysozyme amyloid related amyloidosis, echocardiography may be done for cardiac analysis.

CT scan

There are no CT scan findings associated with lysozyme amyloid related amyloidosis.

MRI

There are no MRI findings associated with lysozyme amyloid related amyloidosis.

Other Imaging Findings

Total body SAP component scintigraphy may be helpful in the diagnosis of lysozyme amyloid related amyloidosis. It can show lysozyme amyloid deposition and extension of it in the liver, spleen, kidney, adrenal glands, and bone marrow.[19]

Other Diagnostic Studies

Treatment

Medical Therapy

There is no treatment for lysozyme amyloid related amyloidosis; the mainstay of therapy is supportive care.[32]

Surgery

Primary Prevention

There are no established measures for the primary prevention of lysozyme amyloid related amyloidosis.

Secondary Prevention

Effective measures for the secondary prevention of lysozyme amyloid related amyloidosis include:[19]

References

  1. 1.0 1.1 1.2 Kyle RA (June 2011). "Amyloidosis: a brief history". Amyloid. 18 Suppl 1: 6–7. doi:10.3109/13506129.2011.574354001. PMID 21838413.
  2. 2.0 2.1 Sipe JD, Cohen AS (June 2000). "Review: history of the amyloid fibril". J. Struct. Biol. 130 (2–3): 88–98. doi:10.1006/jsbi.2000.4221. PMID 10940217.
  3. 3.0 3.1 3.2 Khan MF, Falk RH (November 2001). "Amyloidosis". Postgrad Med J. 77 (913): 686–93. PMC 1742163. PMID 11677276.
  4. 4.0 4.1 4.2 4.3 Pepys, M. B.; Hawkins, P. N.; Booth, D. R.; Vigushin, D. M.; Tennent, G. A.; Soutar, A. K.; Totty, N.; Nguyen, O.; Blake, C. C. F.; Terry, C. J.; Feest, T. G.; Zalin, A. M.; Hsuan, J. J. (1993). "Human lysozyme gene mutations cause hereditary systemic amyloidosis". Nature. 362 (6420): 553–557. doi:10.1038/362553a0. ISSN 0028-0836.
  5. 5.0 5.1 5.2 Benson, Merrill D (2003). "The hereditary amyloidoses". Best Practice & Research Clinical Rheumatology. 17 (6): 909–927. doi:10.1016/j.berh.2003.09.001. ISSN 1521-6942.
  6. 6.0 6.1 Benson, Merrill D (2003). "The hereditary amyloidoses". Best Practice & Research Clinical Rheumatology. 17 (6): 909–927. doi:10.1016/j.berh.2003.09.001. ISSN 1521-6942.
  7. Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.
  8. Wechalekar AD, Gillmore JD, Hawkins PN (June 2016). "Systemic amyloidosis". Lancet. 387 (10038): 2641–2654. doi:10.1016/S0140-6736(15)01274-X. PMID 26719234.
  9. Pepys MB, Rademacher TW, Amatayakul-Chantler S, Williams P, Noble GE, Hutchinson WL, Hawkins PN, Nelson SR, Gallimore JR, Herbert J (June 1994). "Human serum amyloid P component is an invariant constituent of amyloid deposits and has a uniquely homogeneous glycostructure". Proc. Natl. Acad. Sci. U.S.A. 91 (12): 5602–6. doi:10.1073/pnas.91.12.5602. PMC 44044. PMID 8202534.
  10. Tan SY, Pepys MB (November 1994). "Amyloidosis". Histopathology. 25 (5): 403–14. doi:10.1111/j.1365-2559.1994.tb00001.x. PMID 7868080.
  11. Botto M, Hawkins PN, Bickerstaff MC, Herbert J, Bygrave AE, McBride A, Hutchinson WL, Tennent GA, Walport MJ, Pepys MB (August 1997). "Amyloid deposition is delayed in mice with targeted deletion of the serum amyloid P component gene". Nat. Med. 3 (8): 855–9. doi:10.1038/nm0897-855. PMID 9256275.
  12. Wechalekar AD, Gillmore JD, Hawkins PN (June 2016). "Systemic amyloidosis". Lancet. 387 (10038): 2641–2654. doi:10.1016/S0140-6736(15)01274-X. PMID 26719234.
  13. Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ (April 1993). "Human lysozyme gene mutations cause hereditary systemic amyloidosis". Nature. 362 (6420): 553–7. doi:10.1038/362553a0. PMID 8464497.
  14. Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.
  15. Khan MF, Falk RH (November 2001). "Amyloidosis". Postgrad Med J. 77 (913): 686–93. PMC 1742163. PMID 11677276.
  16. Pepys MB (2006). "Amyloidosis". Annu. Rev. Med. 57: 223–41. doi:10.1146/annurev.med.57.121304.131243. PMID 16409147.
  17. 17.0 17.1 Shin YM (March 2011). "Hepatic amyloidosis". Korean J Hepatol. 17 (1): 80–3. doi:10.3350/kjhep.2011.17.1.80. PMC 3304630. PMID 21494083.
  18. Shin YM (March 2011). "Hepatic amyloidosis". Korean J Hepatol. 17 (1): 80–3. doi:10.3350/kjhep.2011.17.1.80. PMC 3304630. PMID 21494083.
  19. 19.0 19.1 19.2 19.3 19.4 Granel, Brigitte; Valleix, Sophie; Serratrice, Jacques; Chérin, Patrick; Texeira, Antonio; Disdier, Patrick; Weiller, Pierre-Jean; Grateau, Gilles (2006). "Lysozyme Amyloidosis". Medicine. 85 (1): 66–73. doi:10.1097/01.md.0000200467.51816.6d. ISSN 0025-7974.
  20. Harrison, R F; Hawkins, P N; Roche, W R; MacMahon, R F; Hubscher, S G; Buckels, J A (1996). "'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis". Gut. 38 (1): 151–152. doi:10.1136/gut.38.1.151. ISSN 0017-5749.
  21. Lim AY, Lee JH, Jung KS, Gwag HB, Kim DH, Kim SJ, Lee GY, Kim JS, Kim HJ, Lee SY, Lee JE, Jeon ES, Kim K (July 2015). "Clinical features and outcomes of systemic amyloidosis with gastrointestinal involvement: a single-center experience". Korean J. Intern. Med. 30 (4): 496–505. doi:10.3904/kjim.2015.30.4.496. PMC 4497337. PMID 26161016.
  22. 22.0 22.1 Baker KR, Rice L (2012). "The amyloidoses: clinical features, diagnosis and treatment". Methodist Debakey Cardiovasc J. 8 (3): 3–7. PMC 3487569. PMID 23227278.
  23. J. G. Lanham, M. L. Meltzer, F. C. De Beer, G. R. Hughes & M. B. Pepys (1982). "Familial amyloidosis of Ostertag". The Quarterly journal of medicine. 51 (201): 25–32. PMID 7111672.
  24. 24.0 24.1 Gillmore, Julian D.; Booth, David R.; Madhoo, S.; Pepys, Mark B.; Hawkins, Philip N. (1999). "Hereditary renal amyloidosis associated with variant lysozyme in a large English family". Nephrology Dialysis Transplantation. 14 (11): 2639–2644. doi:10.1093/ndt/14.11.2639. ISSN 1460-2385.
  25. 25.0 25.1 Yood, Robert A. (1983). "Bleeding Manifestations in 100 Patients With Amyloidosis". JAMA: The Journal of the American Medical Association. 249 (10): 1322. doi:10.1001/jama.1983.03330340064034. ISSN 0098-7484.
  26. J. G. Lanham, M. L. Meltzer, F. C. De Beer, G. R. Hughes & M. B. Pepys (1982). "Familial amyloidosis of Ostertag". The Quarterly journal of medicine. 51 (201): 25–32. PMID 7111672.
  27. Segalov, Eva; Gibson, John; Joshua, Douglas E.; Kronenberg, Harry (2009). "Primary Amyloidosis Co-Presenting with Cervical and Massive Intra-Abdominal Lymphadenopathy". Leukemia & Lymphoma. 19 (5–6): 519–520. doi:10.3109/10428199509112215. ISSN 1042-8194.
  28. "Familial Nephropathic Non-neuropathic Amyloidosis: Clinical Features, Immunohistochemistry and Chemistry". QJM: An International Journal of Medicine. 1991. doi:10.1093/oxfordjournals.qjmed.a068643. ISSN 1460-2393.
  29. Merlini G, Seldin DC, Gertz MA (May 2011). "Amyloidosis: pathogenesis and new therapeutic options". J. Clin. Oncol. 29 (14): 1924–33. doi:10.1200/JCO.2010.32.2271. PMC 3138545. PMID 21483018.
  30. Real de Asúa D, Costa R, Galván JM, Filigheddu MT, Trujillo D, Cadiñanos J (2014). "Systemic AA amyloidosis: epidemiology, diagnosis, and management". Clin Epidemiol. 6: 369–77. doi:10.2147/CLEP.S39981. PMC 4218891. PMID 25378951.
  31. Benson MD, Yazaki M, Magy N (December 2002). "Laboratory assessment of transthyretin amyloidosis". Clin. Chem. Lab. Med. 40 (12): 1262–5. doi:10.1515/CCLM.2002.218. PMID 12553428.
  32. Pleyer, Christopher; Flesche, Jan; Saeed, Fahad (2015). "Lysozyme amyloidosis – a case report and review of the literature". Clinical Nephrology Case Studies. doi:10.5414/CNCS108538. ISSN 2196-5293.
  33. Yazaki, Masahide; Farrell, Sandra A.; Benson, Merrill D. (2003). "A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis". Kidney International. 63 (5): 1652–1657. doi:10.1046/j.1523-1755.2003.00904.x. ISSN 0085-2538.
  34. Valleix, Sophie; Drunat, Séverine; Philit, Jean-Baptiste; Adoue, Daniel; Piette, Jean-Charles; Droz, Dominique; MacGregor, Brigitte; Canet, Denis; Delpech, Marc; Grateau, Gilles (2002). "Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family". Kidney International. 61 (3): 907–912. doi:10.1046/j.1523-1755.2002.00205.x. ISSN 0085-2538.
  35. Sattianayagam, P. T.; Gibbs, S. D. J.; Rowczenio, D.; Pinney, J. H.; Wechalekar, A. D.; Gilbertson, J. A.; Hawkins, P. N.; Lachmann, H. J.; Gillmore, J. D. (2012). "Hereditary lysozyme amyloidosis - phenotypic heterogeneity and the role of solid organ transplantation". Journal of Internal Medicine. 272 (1): 36–44. doi:10.1111/j.1365-2796.2011.02470.x. ISSN 0954-6820.
  36. Loss, Martin; Ng, Wa S.; Karim, Rooshdiya Z.; Strasser, Simone I.; Koorey, David J.; Gallagher, Peter J.; Verran, Deborah J.; McCaughan, Geoffrey W. (2006). "Hereditary lysozyme amyloidosis: Spontaneous hepatic rupture (15 years apart) in mother and daughter. role of emergency liver transplantation". Liver Transplantation. 12 (7): 1152–1155. doi:10.1002/lt.20803. ISSN 1527-6465.

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