Secondary amyloidosis diagnostic study of choice: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Secondary amyloidosis}} | {{Secondary amyloidosis}} | ||
{{CMG}} {{Sahar}} | {{CMG}}{{AE}}{{Sahar}}{{shyam}} | ||
==Overview== | ==Overview== | ||
The [[diagnostic]] study of choice in amyloidosis is [[Tissue (biology)|tissue]] [[biopsy]] of the affected [[Organ (anatomy)|organ]]. [[Urinary]] protein measurement followed by [[renal]] [[biopsy]] is the gold standard of the [[diagnosis]]. | The [[diagnostic]] study of choice in amyloidosis is [[Tissue (biology)|tissue]] [[biopsy]] of the affected [[Organ (anatomy)|organ]]. [[Urinary]] protein measurement followed by [[renal]] [[biopsy]] is the gold standard of the [[diagnosis]]. | ||
==Diagnostic Study of Choice== | ==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]]. | * Since AA amyloidosis is a [[condition]] that occurred due to another [[illness]], the [[diagnostic]] study of choice varies according to the primary [[disorder]].<ref name="LachmannGoodman2007">{{cite journal|last1=Lachmann|first1=Helen J.|last2=Goodman|first2=Hugh J.B.|last3=Gilbertson|first3=Janet A.|last4=Gallimore|first4=J. Ruth|last5=Sabin|first5=Caroline A.|last6=Gillmore|first6=Julian D.|last7=Hawkins|first7=Philip N.|title=Natural History and Outcome in Systemic AA Amyloidosis|journal=New England Journal of Medicine|volume=356|issue=23|year=2007|pages=2361–2371|issn=0028-4793|doi=10.1056/NEJMoa070265}}</ref> | ||
* However, the amyloidosis itself should be confirmed through [[histologic]] examination of the affected organs. | * However, the amyloidosis itself should be confirmed through [[histologic]] examination of the affected organs. | ||
* A [[Tissue (biology)|tissue]] [[biopsy]] of the affected organ is the [[Gold standard (test)|gold standard test]] for amyloidosis. Particular stains can determine the subtype of amyloidosis. | * A [[Tissue (biology)|tissue]] [[biopsy]] of the affected organ is the [[Gold standard (test)|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. | * [[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]]. | * Staining the tissue sample with [[antibodies]] that are specific for AA amyloidosis will confirm the final [[diagnosis]]. | ||
*'''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.<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> | ||
===Diagnostic Criteria=== | ===Diagnostic Criteria=== | ||
* Following diagnostic criteria has been used for AL amyloidosis. However, it may be applicable for AA amyloidosis as well. | * Following [[diagnostic criteria]] has been used for AL amyloidosis. However, it may be applicable for AA amyloidosis as well.<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 | |||
|- | |||
|} | |||
{| class="wikitable" | {| class="wikitable" | ||
|+ | |+ | ||
| colspan=" | | 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;" | | | style="background: #DCDCDC; padding: 5px; text-align: left;" |'''Criteria''' | ||
|- | |- | ||
|Kidney | |'''Kidney''' | ||
* | * | ||
| | | | ||
* > 0.5 g/day [[protein]] loss, predominantly [[albumin]] in 24-hour urine collection | |||
|- | |||
|'''Heart''' | |||
* | * | ||
| | | | ||
* Low voltage (<5mm) in all [[limb leads]] on [[ECG]] | |||
* Elevated levels 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 limits 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 | ||
* | * | ||
| Line 60: | Line 78: | ||
* | * | ||
|- | |- | ||
| | |'''Lung''' | ||
| | | | ||
* | * Diffuse bilateral interstitial pattern on the [[imaging studies]] | ||
* 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 | ||
* | |||
|- | |- | ||
|+ | |+ | ||
| Line 80: | Line 97: | ||
|- | |- | ||
|} | |} | ||
==References== | |||
{{Reflist|2}} | |||
<references /> | <references /> | ||
Latest revision as of 22:09, 10 November 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]Shyam Patel [3]
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.[1]
- 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.[2]
Diagnostic Criteria
- Following diagnostic criteria has been used for AL amyloidosis. However, it may be applicable for AA amyloidosis as well.[3]
| The table below adopted from Clinical Epidemiology Journal |
|---|
| Diagnostic Criteria | |
| Organ | Criteria |
| Kidney
|
|
| Heart
|
|
| Liver
|
|
| Nerve
|
|
| Gastrointestinal tract
|
|
| Lung |
|
| Skin and soft tissue |
|
References
- ↑ Lachmann, Helen J.; Goodman, Hugh J.B.; Gilbertson, Janet A.; Gallimore, J. Ruth; Sabin, Caroline A.; Gillmore, Julian D.; Hawkins, Philip N. (2007). "Natural History and Outcome in Systemic AA Amyloidosis". New England Journal of Medicine. 356 (23): 2361–2371. doi:10.1056/NEJMoa070265. ISSN 0028-4793.
- ↑ Gertz, Morie A.; Comenzo, Ray; Falk, Rodney H.; Fermand, Jean Paul; Hazenberg, Bouke P.; Hawkins, Philip N.; Merlini, Giampaolo; Moreau, Philippe; Ronco, Pierre; Sanchorawala, Vaishali; Sezer, Orhan; Solomon, Alan; Grateau, Giles (2005). "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". American Journal of Hematology. 79 (4): 319–328. doi:10.1002/ajh.20381. ISSN 0361-8609.
- ↑ Real de Asua, Diego; Galvan, Jose Maria; Filigghedu, Maria Teresa; Trujillo, Davinia; Costa, Ramon; Cadinanos, Julen (2014). "Systemic AA amyloidosis: epidemiology, diagnosis, and management". Clinical Epidemiology: 369. doi:10.2147/CLEP.S39981. ISSN 1179-1349.