Familial amyloidosis laboratory findings: Difference between revisions

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{{Familial amyloidosis}}
{{Familial amyloidosis}}


{{CMG}}; {{AE}}  
{{CMG}}; {{AE}} {{F.K}} 


==Overview==
==Overview==
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
Laboratory findings in amyloidosis include elevated [[erythrocyte sedimentation rate]], increased [[BUN]] level, serum [[creatinine]], [[protein]], [[Urinary casts|casts]], or fat cast in [[urine]]. Serum [[troponin]], [[B-type natriuretic peptide]], and [[beta-2-microglobulin]] are prognostic markers for [[heart failure]]. We may also have elevated level of [[AST]], [[ALT]], [[bilirubin]], [[ALP]], and [[TSH]].   
 
OR
 
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
 
OR
 
[Test] is usually normal for patients with [disease name].
 
OR
 
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
 
OR
 
There are no diagnostic laboratory findings associated with [disease name].
 
==Laboratory Findings==
 
There are no diagnostic laboratory findings associated with [disease name].
 
OR
 
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
 
OR
 
[Test] is usually normal among patients with [disease name].
 
OR
 
Laboratory findings consistent with the diagnosis of [disease name] include:
*[Abnormal test 1]
*[Abnormal test 2]
*[Abnormal test 3]
 
OR
 
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
==Overview==
Laboratory findings in amyloidosis include elevated [[erythrocyte sedimentation rate]], increased [[BUN]] level, serum [[creatinine]], protein, casts, or fat bodies in urine. Serum [[troponin]], [[B-type natriuretic peptide]], and [[beta-2-microglobulin]] are prognostic markers for [[heart failure]]. Amyloid deposits can be identified [[histologically]] by [[Congo red]] staining and viewing under [[polarized light]] where amyloid deposits produce a distinctive 'apple green birefringence'. Alternatively, [[Thioflavin|thioflavin T]] stain may be used. An abdominal fat pad aspiration, rectal mucosa biopsy, or bone marrow biopsy can help confirm the diagnosisThey reveal positive findings in 80% patients.


==Laboratory Findings==
==Laboratory Findings==


Cardiac
'''Cardiac'''


* [[Cardiac biomarkers]] are the most important predictors of outcome in amyloidosis.
* [[Cardiac biomarkers]] are the most important predictors of outcome in amyloidosis. They provide a quantitative assessment for [[Heart|cardiac]] damage and wall strain.<ref name="pmid21483018">{{cite journal |vauthors=Merlini G, Seldin DC, Gertz MA |title=Amyloidosis: pathogenesis and new therapeutic options |journal=J. Clin. Oncol. |volume=29 |issue=14 |pages=1924–33 |date=May 2011 |pmid=21483018 |pmc=3138545 |doi=10.1200/JCO.2010.32.2271 |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><ref name="pmid25378951">{{cite journal |vauthors=Real de Asúa D, Costa R, Galván JM, Filigheddu MT, Trujillo D, Cadiñanos J |title=Systemic AA amyloidosis: epidemiology, diagnosis, and management |journal=Clin Epidemiol |volume=6 |issue= |pages=369–77 |date=2014 |pmid=25378951 |pmc=4218891 |doi=10.2147/CLEP.S39981 |url=}}</ref>
* They provide a quantitative assessment for [[Heart|cardiac]] damage and wall strain.<ref name="pmid21483018">{{cite journal |vauthors=Merlini G, Seldin DC, Gertz MA |title=Amyloidosis: pathogenesis and new therapeutic options |journal=J. Clin. Oncol. |volume=29 |issue=14 |pages=1924–33 |date=May 2011 |pmid=21483018 |pmc=3138545 |doi=10.1200/JCO.2010.32.2271 |url=}}</ref>
* The biomarkers include:


:* Troponin I or Troponin T
:*[[Troponin I]] or [[Troponin T]]
:* BNP and NT-proBNP
:*[[BNP]] and [[NT-proBNP]]


Hepatic
'''Hepatic'''
* Common [[Test|tests]] that are abnormal in [[liver function tests]] including:


* [[Liver function tests]], including:
:*[[AST]]
:*[[ALT]]
:*Total [[bilirubin]]
:*[[Alkaline phosphatase]]
:*[[Albumin]]


:*AST
'''Renal'''
:*ALT
* Common [[Test|tests]] that are abnormal in renal function [[Test|tests]] including:
:*Total bilirubin
:*Alkaline phosphatase
:*Albumin
 
Renal
* A variety of kidney function tests can suggest amyloidosis.
* These [[Test|tests]] include abnormalities in:


:*[[Creatinine|Serum creatinine]]
:*[[Creatinine|Serum creatinine]]
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:*[[Albumin]] to [[creatinine]] ratio in the [[urine]]
:*[[Albumin]] to [[creatinine]] ratio in the [[urine]]


Thyroid
'''Thyroid'''
* Common [[Test|tests]] that are abnormal in thyroidal involvement of amyloidosis include:
* Common [[Test|tests]] that are abnormal in thyroidal involvement of amyloidosis include:


:*TSH
:*[[TSH]]
:*Free T4
:*[[Free T4]]
 
Bone marrow
* Concurrent [[multiple myeloma]] can be found in [[Patient|patients]] with amyloidosis.
* In such cases, [[laboratory]] [[Test|testing]] should include<ref name="pmid24145344">{{cite journal| author=Kourelis TV, Kumar SK, Gertz MA, Lacy MQ, Buadi FK, Hayman SR et al.| title=Coexistent multiple myeloma or increased bone marrow plasma cells define equally high-risk populations in patients with immunoglobulin light chain amyloidosis. | journal=J Clin Oncol | year= 2013 | volume= 31 | issue= 34 | pages= 4319-24 | pmid=24145344 | doi=10.1200/JCO.2013.50.8499 | pmc=4881366 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24145344  }} </ref>:


:*[[Serum protein electrophoresis]]
:
:*[[Immunoglobulin]] levels
:*[[Serum]] free light chains
:*[[Beta-2 microglobulin|Beta-2-microglobulin]]


==References==
==References==

Latest revision as of 18:16, 25 November 2019

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

Overview

Laboratory findings in amyloidosis include elevated erythrocyte sedimentation rate, increased BUN level, serum creatinine, protein, casts, or fat cast in urine. Serum troponin, B-type natriuretic peptide, and beta-2-microglobulin are prognostic markers for heart failure. We may also have elevated level of AST, ALT, bilirubin, ALP, and TSH.

Laboratory Findings

Cardiac

Hepatic

Renal

  • Common tests that are abnormal in renal function tests including:

Thyroid

  • Common tests that are abnormal in thyroidal involvement of amyloidosis include:

References

  1. 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.
  2. Baker KR, Rice L (2012). "The amyloidoses: clinical features, diagnosis and treatment". Methodist Debakey Cardiovasc J. 8 (3): 3–7. PMC 3487569. PMID 23227278.
  3. 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.

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