Apolipoprotein AI amyloidosis: Difference between revisions

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==Classification==
==Classification==
Apolipoprotein AI amyloidosis is one of the subtypes of familial amyloidosis. Familiar amyloidosis may be classified according to the type of mutant protein into 6 subtypes:<ref name="Benson2003">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref name="Benson20032">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref>{{cite book | last = Scriver | first = Charles | title = The metabolic & molecular bases of inherited disease | publisher = McGraw-Hill | location = New York | year = 2001 | isbn = 978-0079130358 }}</ref>
Apolipoprotein AI amyloidosis is one of the subtypes of familial amyloidosis. Familiar amyloidosis may be classified according to the type of mutant protein into 7 subtypes:<ref name="Benson2003">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref name="Benson20032">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref>{{cite book | last = Scriver | first = Charles | title = The metabolic & molecular bases of inherited disease | publisher = McGraw-Hill | location = New York | year = 2001 | isbn = 978-0079130358 }}</ref>
* [[Transthyretin|Transthyretin (TTR)]]
* [[Transthyretin|Transthyretin (TTR)]]
* [[Apolipoprotein AI]]
* [[Apolipoprotein AI]]

Revision as of 16:58, 13 November 2019

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

Synonyms and keywords:

Overview

Historical Perspective

Classification

Apolipoprotein AI amyloidosis is one of the subtypes of familial amyloidosis. Familiar amyloidosis may be classified according to the type of mutant protein into 7 subtypes:[4][5][6]

 
 
 
 
 
 
 
 
 
 
 
 
 
genes involved in familial amyloidosis
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Transthyretin (TTR)
 
Apolipoprotein AI
 
Gelsolin
 
Lysozyme
 
Cystatin C
 
Fibrinogen Aa-chain
 
Apolipoprotein AII


Pathophysiology

Pathogenesis

  • It is understood that amyloidosis is the result of deposition of Amyloid.[7]
  • Amyloid is an abnormal insoluble extracellular protein which may cause organic dysfunction and a wide variety of clinical syndromes.
  • These abnormal amyloids are derived from misfolding and aggregation of normally soluble proteins.
  • Amyloid depositions also have glycosaminoglycans and serum amyloid P component (SAP) which alter the propensity for amyloid formation.[8][9][10]
  • Amyloid deposition can disrupt tissue structure of involved organ and consequently leads to organ failure.[11]
  • Genetic mutations in Apolipoprotein AI gene may lead to misfolding protein product.

Genetics

  • Single nucleotide substitutions in apolipoprotein AI gene.[12]
  • The underlying pathogenesis is incomplete degradation of this protein in body.
  • The mode of inheritance in autosomal dominant with different penetrance.

Causes

Common cause of Apolipoprotein AI amyloidosis is genetic mutation.[13][4][5][14]

Differentiating Apolipoprotein AI amyloidosis from Other Diseases

Epidemiology and Demographics

  • The incidence of amyloidosis is approximately 1.2 per 100,000 individuals per year worldwide.[15]
  • The mortality rate of systemic amyloidosis is approximately 100 per 100,000 deaths in developed countries.[16]
  • Hereditary amyloidosis subtypes include a substitution of an amino acid that is detected in approximately 4% of the african american population.[3]
  • Men are more commonly affected by amyloidosis than women.[17]

Risk Factors

  • Common risk factors in the development of apolipoprotein AI amyloidosis include:[17][3][18]
    • Older age
    • Male gender
    • African american race
    • Positive family history

Screening

There is insufficient evidence to recommend routine screening for apolipoprotein AI amyloidosis.

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

  • Tissue biopsy with Congo red stain is the gold standard test for the diagnosis of apolipoprotein AI amyloidosis.[19]
  • Biopsy tissue may be taken from an affected organ like kidney, or from subcutaneous fat or rectal mucosa.
  • The rectal mucosa biopsy is more sensitive for apolipoprotein AI amyloidosis.
  • Biopsy of the affected organ is recommended for patients with limited organ involvement.[20]
  • Biopsy from unaffected organs is more sensitive in patients with multi-organ involvement.
  • The following finding on performing tissue biopsy is confirmatory for familial amyloidosis:[21][22]
    • Apple green birefringence of the tissue sample under polarized light with Congo red stain.
  • There are no established criteria for the diagnosis of familial amyloidosis.

History and Symptoms

  • Patients with apolipoprotein AI amyloidosis may have a positive history of dyspnea, lethargy, weight loss, chest discomfort, fevers or chills, night sweats, positive family history of amyloidosis, male gender, and african american race[23]
  • Common symptoms of apolipoprotein AI amyloidosis include parasthesia, edema, cutaneous lesions, hoarseness, and cough[24][25]

Physical Examination

Physical examination of patients with apolipoprotein AI amyloidosis is usually remarkable for sensory and motor neuropathy, edema, and cutaneous lesion.

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.
  • Cardiac biomarkers such as troponin and BNP and are the most important predictors of outcome in amyloidosis. They provide a quantitative assessment for cardiac damage and wall strain.

Electrocardiogram

  • Findings on an ECG suggestive of apolipoprotein AI amyloidosis include low voltage in the limb leads, AV block, atrial fibrillation, heart block, and angina or infarction[30][31]

X-ray

  • There are no x-ray findings associated with apolipoprotein AI amyloidosis.

Echocardiography or Ultrasound

CT scan


MRI


Other Imaging Findings

There are no other imaging findings associated with apolipoprotein AI amyloidosis.

Other Diagnostic Studies

There are no other diagnostic studies associated with apolipoprotein AI amyloidosis.

Treatment

Medical Therapy

There is no medical therapy for apolipoprotein AI amyloidosis. The mainstay of therapy is supportive care.

Surgery

Primary Prevention

There is no role for primaryprevention in apolipoprotein AI amyloidosis.

Secondary Prevention

There is no role for secondary prevention in apolipoprotein AI amyloidosis.

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 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.
  5. 5.0 5.1 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.
  6. Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.
  7. 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.
  8. 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.
  9. Tan SY, Pepys MB (November 1994). "Amyloidosis". Histopathology. 25 (5): 403–14. doi:10.1111/j.1365-2559.1994.tb00001.x. PMID 7868080.
  10. 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.
  11. 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.
  12. Borhani DW, Rogers DP, Engler JA, Brouillette CG (November 1997). "Crystal structure of truncated human apolipoprotein A-I suggests a lipid-bound conformation". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12291–6. doi:10.1073/pnas.94.23.12291. PMC 24911. PMID 9356442.
  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. 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.
  20. Andrews TR, Colon-Otero G, Calamia KT, Menke DM, Boylan KB, Kyle RA (December 2002). "Utility of subcutaneous fat aspiration for diagnosing amyloidosis in patients with isolated peripheral neuropathy". Mayo Clin. Proc. 77 (12): 1287–90. doi:10.4065/77.12.1287. PMID 12479513.
  21. COHEN AS, CALKINS E (April 1959). "Electron microscopic observations on a fibrous component in amyloid of diverse origins". Nature. 183 (4669): 1202–3. doi:10.1038/1831202a0. PMID 13657054.
  22. Kyle RA (September 2001). "Amyloidosis: a convoluted story". Br. J. Haematol. 114 (3): 529–38. doi:10.1046/j.1365-2141.2001.02999.x. PMID 11552976.
  23. Mahmood S, Palladini G, Sanchorawala V, Wechalekar A (February 2014). "Update on treatment of light chain amyloidosis". Haematologica. 99 (2): 209–21. doi:10.3324/haematol.2013.087619. PMC 3912950. PMID 24497558.
  24. Van Allen MW, Frohlich JA, Davis JR (January 1969). "Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer". Neurology. 19 (1): 10–25. doi:10.1212/wnl.19.1.10. PMID 4304452.
  25. Hamidi Asl K, Liepnieks JJ, Nakamura M, Parker F, Benson MD (April 1999). "A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis". Biochem. Biophys. Res. Commun. 257 (2): 584–8. doi:10.1006/bbrc.1999.0518. PMID 10198255.
  26. Hamidi Asl K, Liepnieks JJ, Nakamura M, Benson MD (May 1999). "Organ-specific (localized) synthesis of Ig light chain amyloid". J. Immunol. 162 (9): 5556–60. PMID 10228037.
  27. 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.
  28. Baker KR, Rice L (2012). "The amyloidoses: clinical features, diagnosis and treatment". Methodist Debakey Cardiovasc J. 8 (3): 3–7. PMC 3487569. PMID 23227278.
  29. 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.
  30. Dubrey SW, Cha K, Skinner M, LaValley M, Falk RH (July 1997). "Familial and primary (AL) cardiac amyloidosis: echocardiographically similar diseases with distinctly different clinical outcomes". Heart. 78 (1): 74–82. doi:10.1136/hrt.78.1.74. PMC 484868. PMID 9290406.
  31. Falk RH (September 2005). "Diagnosis and management of the cardiac amyloidoses". Circulation. 112 (13): 2047–60. doi:10.1161/CIRCULATIONAHA.104.489187. PMID 16186440.
  32. Klein AL, Hatle LK, Burstow DJ, Seward JB, Kyle RA, Bailey KR, Luscher TF, Gertz MA, Tajik AJ (April 1989). "Doppler characterization of left ventricular diastolic function in cardiac amyloidosis". J. Am. Coll. Cardiol. 13 (5): 1017–26. PMID 2647814.
  33. Pantazis A, Vischer AS, Perez-Tome MC, Castelletti S (March 2015). "Diagnosis and management of hypertrophic cardiomyopathy". Echo Res Pract. 2 (1): R45–53. doi:10.1530/ERP-15-0007. PMC 4676455. PMID 26693331.
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