Secondary amyloidosis diagnostic study of choice: Difference between revisions

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*'''Organ-specific labs''': If a particular [[Organ (biology)|organ]] is affected, laboratory measurements that are specific to that organ can be measured. For example, if there is liver involvement, [[liver function tests]] (such as [[Aspartate transaminase|AST]], [[Alanine transaminase|ALT]], [[Bilirubin|total bilirubin]], and [[alkaline phosphatase]]) should be measured.
*'''Organ-specific labs''': If a particular [[Organ (biology)|organ]] is affected, laboratory measurements that are specific to that organ can be measured. For example, if there is liver involvement, [[liver function tests]] (such as [[Aspartate transaminase|AST]], [[Alanine transaminase|ALT]], [[Bilirubin|total bilirubin]], and [[alkaline phosphatase]]) should be measured.
===Diagnostic Criteria===
===Diagnostic Criteria===
* Following diagnostic criteria has been used for AL amyloidosis. However, it may be applicable for AA amyloidosis as well.<ref name="GertzComenzo2005">{{cite journal|last1=Gertz|first1=Morie A.|last2=Comenzo|first2=Ray|last3=Falk|first3=Rodney H.|last4=Fermand|first4=Jean Paul|last5=Hazenberg|first5=Bouke P.|last6=Hawkins|first6=Philip N.|last7=Merlini|first7=Giampaolo|last8=Moreau|first8=Philippe|last9=Ronco|first9=Pierre|last10=Sanchorawala|first10=Vaishali|last11=Sezer|first11=Orhan|last12=Solomon|first12=Alan|last13=Grateau|first13=Giles|title=Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): A consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis|journal=American Journal of Hematology|volume=79|issue=4|year=2005|pages=319–328|issn=0361-8609|doi=10.1002/ajh.20381}}</ref>
* Following diagnostic criteria has been used for AL amyloidosis. However, it may be applicable for AA amyloidosis as well.
{|
{|
! colspan="2" style="background:#DCDCDC;" align="center" + |The table below adopted from Clinical Epidemiology Journal<ref name="Real de AsuaGalvan2014">{{cite journal|last1=Real de Asua|first1=Diego|last2=Galvan|first2=Jose Maria|last3=Filigghedu|first3=Maria Teresa|last4=Trujillo|first4=Davinia|last5=Costa|first5=Ramon|last6=Cadinanos|first6=Julen|title=Systemic AA amyloidosis: epidemiology, diagnosis, and management|journal=Clinical Epidemiology|year=2014|pages=369|issn=1179-1349|doi=10.2147/CLEP.S39981}}</ref>
! colspan="2" style="background:#DCDCDC;" align="center" + |The table below adopted from Clinical Epidemiology Journal
|-  
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|}
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{| class="wikitable"
{| class="wikitable"
|+
|+
| colspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Diagnostic Criteria
| colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Diagnostic Criteria
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: left;" |Organ
| style="background: #DCDCDC; padding: 5px; text-align: left;" |Organ
| style="background: #DCDCDC; padding: 5px; text-align: left;" |Test
| style="background: #DCDCDC; padding: 5px; text-align: left;" |Criteria
| style="background: #DCDCDC; padding: 5px; text-align: left;" |Criteria
|-
|-
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*  
*  
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* 24-hour Urine collection
* > 0.5 g/day protein loss, predominantly albumin in 24-hour urine collection
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* > 0.5 g/day protein loss, predominantly albumin
|-
|-
|Heart
|Heart
*  
*  
|
|
*  
* Low voltage (<5mm) in all limb leads on ECG
|
* Normal values of NT-proBNP
* Mean wall thickness >12 mm on the echocardiogram, in the absence of other cardiac cause
* Delay in subendocardial gadolinium enhancement on cardiac MR imaging
 
*  
*  
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|-
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*  
*  
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|
*  
* Alkaline phosphatase> 1.5 upper limit of normal
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* Hepatomegaly >15 cm
* Absence of heart failure
 
*  
*  
*  
*  
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*  
*  
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|
*  
* Symmetric lower extremity sensorimotor peripheral neuropathy on physical examination
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* Presence of orthostatic hypotension due to autonomic nerve involvement
* Intestinal dysmotility (gastric emptying disorder, pseudo-obstruction, voiding dysfunction)
 
*  
*  


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*  
*  
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*  
* Histologic examination consistent with amyloidosis histology
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*  
*  
|-
|Lung
|
* Diffuse bilateral interstitial pattern
* Histologic examination consistent with the diagnosis of amyloidosis
|-
|Skin and soft tissue
|
* Macroglossia, jaw claudication, skin lesions in physical examination
* Findings associated with the diagnosis of Carpal tunnel syndrome on EMG
* Histologic examination consistent with the diagnosis of amyloidosis
|-
|-
|+
|+

Revision as of 21:35, 29 October 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Sahar Memar Montazerin, M.D.[2]

Overview

The diagnostic study of choice in amyloidosis is tissue biopsy of the affected organ. Urinary protein measurement followed by renal biopsy is the gold standard of the diagnosis.

Diagnostic Study of Choice

  • Since AA amyloidosis is a condition that occurred due to another illness, the diagnostic study of choice varies according to the primary disorder.
  • However, the amyloidosis itself should be confirmed through histologic examination of the affected organs.
  • A tissue biopsy of the affected organ is the gold standard test for amyloidosis. Particular stains can determine the subtype of amyloidosis.
  • Kidney is affected to a greater extent compared to other organs. The 24-hour urine collection with the assessment of urinary protein may be useful and in the case of renal involvement, a kidney biopsy is required.
  • Staining the tissue sample with antibodies that are specific for AA amyloidosis will confirm the final diagnosis.
  • Organ-specific labs: If a particular organ is affected, laboratory measurements that are specific to that organ can be measured. For example, if there is liver involvement, liver function tests (such as AST, ALT, total bilirubin, and alkaline phosphatase) should be measured.

Diagnostic Criteria

  • Following diagnostic criteria has been used for AL amyloidosis. However, it may be applicable for AA amyloidosis as well.
The table below adopted from Clinical Epidemiology Journal
Diagnostic Criteria
Organ Criteria
Kidney
  • > 0.5 g/day protein loss, predominantly albumin in 24-hour urine collection
Heart
  • Low voltage (<5mm) in all limb leads on ECG
  • Normal values of NT-proBNP
  • Mean wall thickness >12 mm on the echocardiogram, in the absence of other cardiac cause
  • Delay in subendocardial gadolinium enhancement on cardiac MR imaging
Liver
  • Alkaline phosphatase> 1.5 upper limit of normal
  • Hepatomegaly >15 cm
  • Absence of heart failure
Nerve
  • Symmetric lower extremity sensorimotor peripheral neuropathy on physical examination
  • Presence of orthostatic hypotension due to autonomic nerve involvement
  • Intestinal dysmotility (gastric emptying disorder, pseudo-obstruction, voiding dysfunction)
Gastrointestinal tract
  • Histologic examination consistent with amyloidosis histology
Lung
  • Diffuse bilateral interstitial pattern
  • Histologic examination consistent with the diagnosis of amyloidosis
Skin and soft tissue
  • Macroglossia, jaw claudication, skin lesions in physical examination
  • Findings associated with the diagnosis of Carpal tunnel syndrome on EMG
  • Histologic examination consistent with the diagnosis of amyloidosis