Wild-type (senile) amyloidosis other diagnostic studies: Difference between revisions

Jump to navigation Jump to search
No edit summary
 
(4 intermediate revisions by the same user not shown)
Line 12: Line 12:
! colspan="2" |Other Diagnostic Studies
! colspan="2" |Other Diagnostic Studies
|-
|-
|Cardiac biomarkers
!Histopathological analysis
|
|
* Brain natriuretic peptide (BNP), N-terminal fragment of BNP (NT-proBNP) and cardiac troponins.
*[[Endomyocardial biopsy|Endomyocardial biopsy (EMB)]] with [[histopathology]] remains the [[Gold standard (test)|gold standard]] for [[diagnosis]] of cardiac amyloidosis.
* Elevation of NT-proBNP indicates the presence of left ventricular abnormalities in patients with familial mutation in ATTR
*[[Histopathology]] demonstrates deposition of amorphous deposits of [[amyloid]] fibrils in the [[heart]].
* Used as a screening test to initiate workup for ATTRm-CA
* The binding of [[Congo red]] [[stain]] to the deposited [[amyloid]] fibrils leads to characteristic apple-green [[birefringence]] under polarized [[light microscopy]] and an intense yellow-green [[fluorescence]] is seen when binding to [[thioflavin]].
* Increasing serum levels of BNP, NT-proBNP and troponins were shown to have a progressive correlation with disease severity and worse outcomes
* Precursor [[protein]] identification can be accomplished by [[immunohistochemistry]], [[Electron microscope|electron microscopy]], or [[mass spectrometry]] (preferred), depending upon institutional expertise.
* Monitoring of these cardiac biomarkers is being employed to monitor treatment
* Adjunctive [[laboratory]] [[Test|tests]] to rule out AL include assaying for other [[Organ (anatomy)|organ]] dysfunction (e.g., [[proteinuria]], [[alkaline phosphatase]]) and directly measuring the circulating [[Light chain|light chains]] in [[Blood plasma|plasma]].
*[[Endomyocardial biopsy|EMB]] is associated with risks of [[Complication (medicine)|complications]] such as:
**[[Ventricle (heart)|Ventricular]] free-wall [[perforation]]
**[[Cardiac arrhythmia|Arrhythmia]]
**[[Electrical conduction system of the heart|Conduction]] abnormalities
|-
|-
|Histopathological diagnosis
!Genetic testing
|
|
* EMB with histopathology remains the gold standard for diagnosis of cardiac amyloidosis.
*[[DNA]] sequencing for the [[transthyretin]] [[gene]]
* Histopathology demonstrates deposition of amorphous deposits of amyloid fibrils in the heart.
* Absence of [[amino acid]] sequence abnormalities by [[mass spectrometry]] is consistent with wild-type (senile) amyloidosis
* The binding of Congo red stain to the deposited amyloid fibrils leads to characteristic apple-green birefringence under polarized light microscopy and an intense yellow-green fluorescence is seen when binding to thioflavin.
* Presence of a [[Pathology|pathologic]] [[mutation]]
* Precursor protein identification can be accomplished by immunohistochemistry, electron microscopy, or mass spectrometry (preferred), depending upon institutional expertise.
** Predict sites of [[Organ (anatomy)|organ]] involvement
* Adjunctive laboratory tests to rule out AL include assaying for other organ dysfunction (e.g., proteinuria, alkaline phosphatase) and directly measuring the circulating light chains in plasma.
**[[Family history]]
* EMB is associated with risks of complications such as
** Ventricular free-wall perforation 
** Arrhythmia
** Conduction abnormalities
|-
|Genetic testing
|
* DNA sequencing for the transthyretin gene
* Absence of amino acid sequence abnormalities by mass spectrometry is consistent with ATTRwt-CA
* Presence of a pathologic mutation  
** Predict sites of organ involvement
** Family history
|}
|}



Latest revision as of 19:13, 20 December 2019

Wild-type (senile) amyloidosis Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Wild-type (senile) amyloidosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Wild-type (senile) amyloidosis other diagnostic studies On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Wild-type (senile) amyloidosis other diagnostic studies

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Wild-type (senile) amyloidosis other diagnostic studies

CDC on Wild-type (senile) amyloidosis other diagnostic studies

Wild-type (senile) amyloidosis other diagnostic studies in the news

Blogs on Wild-type (senile) amyloidosis other diagnostic studies

Directions to Hospitals Treating Psoriasis

Risk calculators and risk factors for Wild-type (senile) amyloidosis other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]

Overview

Other diagnostic studies that help in diagnosing wild-type (senile) amyloidosis include histopathological analysis and genetic testing.

Other Diagnostic Studies

Other diagnostic studies that help in diagnosing wild-type (senile) amyloidosis include histopathological analysis and genetic testing.[1]

Other Diagnostic Studies
Histopathological analysis
Genetic testing

References

  1. Damy T, Deux JF, Moutereau S, Guendouz S, Mohty D, Rappeneau S, Guellich A, Hittinger L, Loric S, Lefaucheur JP, Plante-Bordeneuve V (December 2013). "Role of natriuretic peptide to predict cardiac abnormalities in patients with hereditary transthyretin amyloidosis". Amyloid. 20 (4): 212–20. doi:10.3109/13506129.2013.825240. PMID 23964755.