Apolipoprotein AI amyloidosis: Difference between revisions
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There are no established criteria for the diagnosis of familial amyloidosis. | There are no established criteria for the diagnosis of familial amyloidosis. | ||
===History and Symptoms=== | ===History and Symptoms=== | ||
Patients with amyloidosis may have a positive history of:<ref name="pmid24497558">{{cite journal |vauthors=Mahmood S, Palladini G, Sanchorawala V, Wechalekar A |title=Update on treatment of light chain amyloidosis |journal=Haematologica |volume=99 |issue=2 |pages=209–21 |date=February 2014 |pmid=24497558 |pmc=3912950 |doi=10.3324/haematol.2013.087619 |url=}}</ref> | |||
*[[Dyspnea]] | |||
*[[Lethargy]] | |||
*[[Weight loss]] | |||
*[[Chest discomfort]] | |||
*[[Fevers]] or [[chills]] | |||
*[[Night sweats]] | |||
*Positive family history of amyloidosis | |||
*Male gender | |||
* African american race | |||
===Common Symptoms=== | |||
Common [[symptoms]] of ATTR familial amyloidosis include: | |||
* Parasthesia | |||
* Muscle weakness | |||
* Sexual problems | |||
* Constipation/ diarrhea | |||
* Urination problems | |||
* Weakness | |||
* Fatigue | |||
* Edema | |||
* Palpitation | |||
* Dizziness | |||
Common [[symptoms]] of Apolipoprotein AI familial amyloidosis include:<ref name="pmid4304452">{{cite journal |vauthors=Van Allen MW, Frohlich JA, Davis JR |title=Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer |journal=Neurology |volume=19 |issue=1 |pages=10–25 |date=January 1969 |pmid=4304452 |doi=10.1212/wnl.19.1.10 |url=}}</ref><ref name="pmid10198255">{{cite journal |vauthors=Hamidi Asl K, Liepnieks JJ, Nakamura M, Parker F, Benson MD |title=A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis |journal=Biochem. Biophys. Res. Commun. |volume=257 |issue=2 |pages=584–8 |date=April 1999 |pmid=10198255 |doi=10.1006/bbrc.1999.0518 |url=}}</ref> | |||
* Parasthesia | |||
* Edema | |||
* Cutaneous lesions | |||
* Hoarseness | |||
* Cough | |||
Common [[symptoms]] of Gesolin familial amyloidosis include:<ref name="pmid4313418">{{cite journal |vauthors=Meretoja J |title=Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome |journal=Ann. Clin. Res. |volume=1 |issue=4 |pages=314–24 |date=December 1969 |pmid=4313418 |doi= |url=}}</ref> | |||
* Vision problems | |||
* Droopy appearance of face, neck, and armpitt | |||
* A tingling sensation in face | |||
* Drooling or slurred speech | |||
Common [[symptoms]] of Lysozyme familial amyloidosis include:<ref name="pmid26161016">{{cite journal |vauthors=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 |title=Clinical features and outcomes of systemic amyloidosis with gastrointestinal involvement: a single-center experience |journal=Korean J. Intern. Med. |volume=30 |issue=4 |pages=496–505 |date=July 2015 |pmid=26161016 |pmc=4497337 |doi=10.3904/kjim.2015.30.4.496 |url=}}</ref><ref name="pmid23227278">{{cite journal |vauthors=Baker KR, Rice L |title=The amyloidoses: clinical features, diagnosis and treatment |journal=Methodist Debakey Cardiovasc J |volume=8 |issue=3 |pages=3–7 |date=2012 |pmid=23227278 |pmc=3487569 |doi= |url=}}</ref> | |||
* [[Fatigue]] | |||
*[[Weight loss]] | |||
*[[Edema]] | |||
Common [[symptoms]] of Cystatin C familial amyloidosis include:<ref name="pmid4655034">{{cite journal |vauthors=Gudmundsson G, Hallgrímsson J, Jónasson TA, Bjarnason O |title=Hereditary cerebral haemorrhage with amyloidosis |journal=Brain |volume=95 |issue=2 |pages=387–404 |date=1972 |pmid=4655034 |doi=10.1093/brain/95.2.387 |url=}}</ref><ref name="pmid3707586">{{cite journal |vauthors=Ghiso J, Pons-Estel B, Frangione B |title=Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases |journal=Biochem. Biophys. Res. Commun. |volume=136 |issue=2 |pages=548–54 |date=April 1986 |pmid=3707586 |doi=10.1016/0006-291x(86)90475-4 |url=}}</ref> | |||
* Balance problems | |||
* Headache | |||
* Increase head size | |||
* Seizures | |||
* Loss of intellectual function | |||
Common [[symptoms]] of Fibrinogen Aa-chain familial amyloidosis include:<ref name="pmid10825402">{{cite journal |vauthors=Gillmore JD, Booth DR, Rela M, Heaton ND, Rahman V, Stangou AJ, Pepys MB, Hawkins PN |title=Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family |journal=QJM |volume=93 |issue=5 |pages=269–75 |date=May 2000 |pmid=10825402 |doi=10.1093/qjmed/93.5.269 |url=}}</ref> | |||
* Hypertension | |||
* Edema | |||
* Fatigue | |||
Common [[symptoms]] of Apolipoprotein AII familial amyloidosis include:<ref name="pmid4728894">{{cite journal |vauthors=Weiss SW, Page DL |title=Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells |journal=Am. J. Pathol. |volume=72 |issue=3 |pages=447–60 |date=September 1973 |pmid=4728894 |pmc=1904021 |doi= |url=}}</ref> | |||
* Edema | |||
* Fatigue | |||
===Less Common Symptoms=== | |||
Less common [[symptoms]] of familial amyloidosis include:<ref name="pmid10228037">{{cite journal |vauthors=Hamidi Asl K, Liepnieks JJ, Nakamura M, Benson MD |title=Organ-specific (localized) synthesis of Ig light chain amyloid |journal=J. Immunol. |volume=162 |issue=9 |pages=5556–60 |date=May 1999 |pmid=10228037 |doi= |url=}}</ref> | |||
*[[Hoarseness]] | |||
*[[Gastrointestinal bleeding]] | |||
*[[Diarrhea]] | |||
*Paresthesias | |||
*Gross [[hematuria]] | |||
*Irritative [[urinary symptoms]] | |||
===Physical Examination=== | ===Physical Examination=== | ||
===Laboratory Findings=== | ===Laboratory Findings=== | ||
Revision as of 15:20, 12 November 2019
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
- In 1639, Nicolaus Fontanus autopsied a young man who had ascites, jaundice, liver abscess, and splenomegaly and his report has been the first description of amyloidosis.[1]
- In 1854, Rudolph Virchow introduced the term "amyloid" as a macroscopic abnormality in some tissues.[2]
- In 1867, Weber reported the first case of amyloidosis associated with multiple myeloma.[1]
- In 1922, Bennhold introduced Congo Red staining of amyloid that remains the gold standard for diagnosis.[3]
- In 1959, Cohen and Calkins used ultrathin sections of amyloidotic tissues and assessed by electron microscopy, explained the presence of non-branching fibrils with indeterminate length and variable width.[2][1]
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:[4][5][6]
- Transthyretin (TTR)
- Apolipoprotein AI
- Apolipoprotein AII
- Fibrinogen Aa
- Lysozyme
- Gelsolin
- Cystatin C
| 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
Incidence
Mortality rate
- The mortality rate of systemic amyloidosis is approximately 100 per 100,000 deaths in developed countries.[16]
Age
- Apolipoprotein AI amyloidosis commonly affects individuals older than 30.
Race
- Hereditary amyloidosis subtypes include a substitution of an amino acid that is detected in approximately 4% of the african american population.[3]
Gender
- Men are more commonly affected by amyloidosis than women.[17]
Risk Factors
- Common risk factors in the development of familial 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 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 familial 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:
- Transthyretin (TTR)
- Apolipoprotein AI
- Apolipoprotein AII
- Fibrinogen Aa
- 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.
Diagnostic results
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.
Sequence of Diagnostic Studies
The various investigations must be performed in the following order:
- History
- Although all the familial amyloidosis types are autosomal dominant, different degree of temperance makes it difficult to diagnose the disease based on family history.
- Physical examination
- Biopsy
Name of Diagnostic Criteria
There are no established criteria for the diagnosis of familial amyloidosis.
History and Symptoms
Patients with amyloidosis may have a positive history of:[23]
- Dyspnea
- Lethargy
- Weight loss
- Chest discomfort
- Fevers or chills
- Night sweats
- Positive family history of amyloidosis
- Male gender
- African american race
Common Symptoms
Common symptoms of ATTR familial amyloidosis include:
- Parasthesia
- Muscle weakness
- Sexual problems
- Constipation/ diarrhea
- Urination problems
- Weakness
- Fatigue
- Edema
- Palpitation
- Dizziness
Common symptoms of Apolipoprotein AI familial amyloidosis include:[24][25]
- Parasthesia
- Edema
- Cutaneous lesions
- Hoarseness
- Cough
Common symptoms of Gesolin familial amyloidosis include:[26]
- Vision problems
- Droopy appearance of face, neck, and armpitt
- A tingling sensation in face
- Drooling or slurred speech
Common symptoms of Lysozyme familial amyloidosis include:[27][28]
Common symptoms of Cystatin C familial amyloidosis include:[29][30]
- Balance problems
- Headache
- Increase head size
- Seizures
- Loss of intellectual function
Common symptoms of Fibrinogen Aa-chain familial amyloidosis include:[31]
- Hypertension
- Edema
- Fatigue
Common symptoms of Apolipoprotein AII familial amyloidosis include:[32]
- Edema
- Fatigue
Less Common Symptoms
Less common symptoms of familial amyloidosis include:[33]
- Hoarseness
- Gastrointestinal bleeding
- Diarrhea
- Paresthesias
- Gross hematuria
- Irritative urinary symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography or Ultrasound
CT scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
There is no treatment for [disease name]; the mainstay of therapy is supportive care.
OR
Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
OR
The majority of cases of [disease name] are self-limited and require only supportive care.
OR
[Disease name] is a medical emergency and requires prompt treatment.
OR
The mainstay of treatment for [disease name] is [therapy].
OR The optimal therapy for [malignancy name] depends on the stage at diagnosis.
OR
[Therapy] is recommended among all patients who develop [disease name].
OR
Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
OR
Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
OR
Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
OR
Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].
Surgery
Surgical intervention is not recommended for the management of [disease name].
OR
Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]
OR
The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].
OR
The feasibility of surgery depends on the stage of [malignancy] at diagnosis.
OR
Surgery is the mainstay of treatment for [disease or malignancy].
Primary Prevention
There are no established measures for the primary prevention of [disease name].
OR
There are no available vaccines against [disease name].
OR
Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
OR
[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].
Secondary Prevention
There are no established measures for the secondary prevention of [disease name].
OR
Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].
References
- ↑ 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.
- ↑ 2.0 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.
- ↑ 3.0 3.1 3.2 Khan MF, Falk RH (November 2001). "Amyloidosis". Postgrad Med J. 77 (913): 686–93. PMC 1742163. PMID 11677276.
- ↑ 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.
- ↑ 5.0 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.
- ↑ Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.
- ↑ 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.
- ↑ 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.
- ↑ Tan SY, Pepys MB (November 1994). "Amyloidosis". Histopathology. 25 (5): 403–14. doi:10.1111/j.1365-2559.1994.tb00001.x. PMID 7868080.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.
- ↑ Khan MF, Falk RH (November 2001). "Amyloidosis". Postgrad Med J. 77 (913): 686–93. PMC 1742163. PMID 11677276.
- ↑ Pepys MB (2006). "Amyloidosis". Annu. Rev. Med. 57: 223–41. doi:10.1146/annurev.med.57.121304.131243. PMID 16409147.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Meretoja J (December 1969). "Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome". Ann. Clin. Res. 1 (4): 314–24. PMID 4313418.
- ↑ 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.
- ↑ Baker KR, Rice L (2012). "The amyloidoses: clinical features, diagnosis and treatment". Methodist Debakey Cardiovasc J. 8 (3): 3–7. PMC 3487569. PMID 23227278.
- ↑ Gudmundsson G, Hallgrímsson J, Jónasson TA, Bjarnason O (1972). "Hereditary cerebral haemorrhage with amyloidosis". Brain. 95 (2): 387–404. doi:10.1093/brain/95.2.387. PMID 4655034.
- ↑ Ghiso J, Pons-Estel B, Frangione B (April 1986). "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. 136 (2): 548–54. doi:10.1016/0006-291x(86)90475-4. PMID 3707586.
- ↑ Gillmore JD, Booth DR, Rela M, Heaton ND, Rahman V, Stangou AJ, Pepys MB, Hawkins PN (May 2000). "Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family". QJM. 93 (5): 269–75. doi:10.1093/qjmed/93.5.269. PMID 10825402.
- ↑ Weiss SW, Page DL (September 1973). "Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells". Am. J. Pathol. 72 (3): 447–60. PMC 1904021. PMID 4728894.
- ↑ 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.