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→General: new treatment options in TTR amyloidosis
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| Gross = waxy appearance | | Gross = waxy appearance | ||
| Grossing = | | Grossing = | ||
| Site = pretty much anywhere | | Site = pretty much anywhere, [[blood vessel]]s | ||
| Assdx = very many | | Assdx = very many | ||
| Syndromes = | | Syndromes = | ||
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}} | }} | ||
'''Amyloid''' is one of those things clinicians can put in many [[differential diagnoses]]. The [[pathologist]] can diagnose it. | '''Amyloid''' is one of those things clinicians can put in many [[differential diagnoses]]. The [[pathologist]] can diagnose it. | ||
This article is a general overview of the topic. Links are provided to articles that deal with amyloidosis at specific sites, see ''[[Amyloid#Site specific|site specific]]'' section below. | |||
=Overview= | =Overview= | ||
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*Collagen. | *Collagen. | ||
*Smooth muscle. | *Smooth muscle. | ||
====Images==== | ====Images==== | ||
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*[[CADASIL]] (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). | *[[CADASIL]] (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). | ||
**Typically has basophilic granularity in the blood vessels.<ref name=pmid17076524>{{cite journal |author=Kleinschmidt-DeMasters BK, Prayson RA |title=An algorithmic approach to the brain biopsy--part I |journal=Arch. Pathol. Lab. Med. |volume=130 |issue=11 |pages=1630–8 |year=2006 |month=November |pmid=17076524 |doi= |url=}}</ref> | **Typically has basophilic granularity in the blood vessels.<ref name=pmid17076524>{{cite journal |author=Kleinschmidt-DeMasters BK, Prayson RA |title=An algorithmic approach to the brain biopsy--part I |journal=Arch. Pathol. Lab. Med. |volume=130 |issue=11 |pages=1630–8 |year=2006 |month=November |pmid=17076524 |doi= |url=}}</ref> | ||
==Stains== | |||
*[[Congo red]] +ve. | |||
**Positive:<ref name=pmid18076735>{{cite journal |author=Ebert EC, Nagar M |title=Gastrointestinal manifestations of amyloidosis |journal=Am. J. Gastroenterol. |volume=103 |issue=3 |pages=776-87 |year=2008 |month=March |pmid=18076735 |doi=10.1111/j.1572-0241.2007.01669.x |url=}}</ref> | |||
***Orange/light red (non-polarized light). | |||
***Apple green birefringence ([[polarized light]]). | |||
**Negative: | |||
***Blue birefringence (polarized light) = collagen fibers.<ref name=pmid21760829/> | |||
*[[Thioflavin T stain]].<ref name=pmid18175051>{{cite journal |author=Nishi S, Alchi B, Imai N, Gejyo F |title=New advances in renal amyloidosis |journal=Clin. Exp. Nephrol. |volume=12 |issue=2 |pages=93-101 |year=2008 |month=April |pmid=18175051 |doi=10.1007/s10157-007-0008-3 |url=}}</ref> | |||
*Sodium sulphate-Alcian Blue stain +ve.<ref name=pmid55419>{{Cite journal | last1 = Pomerance | first1 = A. | last2 = Slavin | first2 = G. | last3 = McWatt | first3 = J. | title = Experience with the sodium sulphate-Alcian Blue stain for amyloid in cardiac pathology. | journal = J Clin Pathol | volume = 29 | issue = 1 | pages = 22-6 | month = Jan | year = 1976 | doi = | PMID = 55419 }}</ref> | |||
==Sign out== | ==Sign out== | ||
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**Considered to be the definitive test.<ref name=pmid11447744/><ref name=pmid17046651>{{cite journal |author=Murphy CL, Wang S, Williams T, Weiss DT, Solomon A |title=Characterization of systemic amyloid deposits by mass spectrometry |journal=Meth. Enzymol. |volume=412 |issue= |pages=48–62 |year=2006 |pmid=17046651 |doi=10.1016/S0076-6879(06)12004-2 |url=}}</ref> | **Considered to be the definitive test.<ref name=pmid11447744/><ref name=pmid17046651>{{cite journal |author=Murphy CL, Wang S, Williams T, Weiss DT, Solomon A |title=Characterization of systemic amyloid deposits by mass spectrometry |journal=Meth. Enzymol. |volume=412 |issue= |pages=48–62 |year=2006 |pmid=17046651 |doi=10.1016/S0076-6879(06)12004-2 |url=}}</ref> | ||
***High specificity and sensitivity vis-à-vis clinicopathologic correlation.<ref name=pmid19797517>{{cite journal |author=Vrana JA, Gamez JD, Madden BJ, Theis JD, Bergen HR, Dogan A |title=Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens |journal=Blood |volume=114 |issue=24 |pages=4957–9 |year=2009 |month=December |pmid=19797517 |doi=10.1182/blood-2009-07-230722 |url=}}</ref> | ***High specificity and sensitivity vis-à-vis clinicopathologic correlation.<ref name=pmid19797517>{{cite journal |author=Vrana JA, Gamez JD, Madden BJ, Theis JD, Bergen HR, Dogan A |title=Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens |journal=Blood |volume=114 |issue=24 |pages=4957–9 |year=2009 |month=December |pmid=19797517 |doi=10.1182/blood-2009-07-230722 |url=}}</ref> | ||
**May be done on formalin-fixed paraffin embedded (FFPE) material.<ref name=pmid19797517/> | **May be done on [[formalin-fixed paraffin embedded]] (FFPE) material.<ref name=pmid19797517/> | ||
=Types= | =Types= | ||
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===General=== | ===General=== | ||
*Previously known as ''senile cardiac amyloidosis''.<ref name=pmid15645642>{{Cite journal | last1 = Ikeda | first1 = S. | title = Cardiac amyloidosis: heterogenous pathogenic backgrounds. | journal = Intern Med | volume = 43 | issue = 12 | pages = 1107-14 | month = Dec | year = 2004 | doi = | PMID = 15645642 }}</ref> | *Previously known as ''senile cardiac amyloidosis''.<ref name=pmid15645642>{{Cite journal | last1 = Ikeda | first1 = S. | title = Cardiac amyloidosis: heterogenous pathogenic backgrounds. | journal = Intern Med | volume = 43 | issue = 12 | pages = 1107-14 | month = Dec | year = 2004 | doi = | PMID = 15645642 }}</ref> | ||
*May be referred to as ''ATTR'' = amyloidosis TTR; in SSA the TTR is not mutated. | *May be referred to as ''ATTR'' = amyloidosis TTR; in SSA the TTR is not mutated, some call it: wt transthyretin amyloidosis (ATTR). | ||
**There is a hereditary form of amyloidosis with mutated TTR deposition known as ''ATTR type FAP'' = ATTR type Familial Amyloid Polyneuropathy. | **There is a hereditary form of amyloidosis with mutated TTR deposition known as ''ATTR type FAP'' = ATTR type Familial Amyloid Polyneuropathy. | ||
***Hereditary TTR: deposits in the heart, nerves and leptomeningeal amyloidosis. | |||
Epidemiology: | Epidemiology: | ||
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Treatment: | Treatment: | ||
* | *Liver transplantation, RNAi therapy (patisiran) and antisense oligonucleotides (inotersen).<ref>{{Cite journal | last1 = Adams | first1 = D. | last2 = Koike | first2 = H. | last3 = Slama | first3 = M. | last4 = Coelho | first4 = T. | title = Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. | journal = Nat Rev Neurol | volume = 15 | issue = 7 | pages = 387-404 | month = Jul | year = 2019 | doi = 10.1038/s41582-019-0210-4 | PMID = 31209302 }}</ref> | ||
===Gross pathology=== | ===Gross pathology=== | ||
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Note: | Note: | ||
*Evaluation of at least 15 small blood vessels is recommended.<ref name=pmid21760829/> | *Evaluation of at least 15 small blood vessels is recommended.<ref name=pmid21760829/> | ||
===Sign out=== | ===Sign out=== | ||
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www: | www: | ||
*[http://path.upmc.edu/cases/case125.html Renal amyloidosis - several images (upmc.edu)]. | *[http://path.upmc.edu/cases/case125.html Renal amyloidosis - several images (upmc.edu)]. | ||
==Urinary bladder amyloidosis== | |||
{{Main|Urinary bladder amyloidosis}} | |||
==GI amyloidosis== | ==GI amyloidosis== | ||