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AMYLOIDOSIS

Amyloid
General clinical features

AL: Acquired PNS
CNS Amyloidosis
Hereditary PNS amyloid
  Transthyretin
  Apolipoprotein A1
  Gelsolin
  β2-microglobulin
Myopathy
  Acquired
  LGMD: 2B; 2I; 2L
Non-neurologic amyloid
Pathology
  Staining Methods

Neuropathy, Amyloid-like

Amyloid around vessel (Arrow)
Loss of smaller myelinated axons


GENERAL FEATURES
ACQUIRED AMYLOIDOSIS 16

AL Amyloid
IgM amyloid

HEREDITARY PNS AMYLOIDOSIS
General
Amyloidosis: Transthyretin-related
  Transthyretin (TTR) ; Chromosome 18q12.1; Dominant

TTR gene
TTR protein
Clinical: Genetic correlations
Clinical syndromes
  FAP1
  FAP2
  Homozygotes
  Treatments
Variant: TTRwt


Amyloidosis, Familial Visceral (ApoA1; FAP III; "Iowa" type)
  Apolipoprotein A-1 (APOA1) ; Chromosome 11q23.3; Dominant

Amyloidosis (Gelsolin; FAP IV; "Finnish" (also Japanese) type )
  Gelsolin (GSN) ; Chromosome 9q33.2; Dominant
Amyloidosis (β2-Microglobulin) 4
  β2-Microglobulin (B2M) ; Chromosome 15q21.1; Dominant
OTHER AMYLOIDOSIS 9

NON-NEUROLOGIC
ClassificationAssociated featuresProtein component
SecondaryRheumatoid arthritis
Inflammatory disorders
Leprosy: Chronic
Serum Amyloid A (SAA)
SAA1 & SAA2 ;
  SAA4
Familial Mediterranean fever
  (FMF)
Renal disease
Abdominal pain
SAA
1° cause: Pyrin
Treatment: Colchicine
AIAPP (Pancreatic amyloid) Diabetes mellitus type 2
Insulinomas
Islet amyloid polypeptide
APro Aging pituitary
Prolactinoma
Prolactin
AKerSkinKeratins
AInsIatrogenic (Injection sites)Insulin
AMedAortic media (Aging)MFGE8 (Medin)
AANFCardiac atrial depositsAtrial natriuretic factor
Senile SystemicCardiopathic; Carpal tunnel Transthyretin (normal)
ALPrimary
Organs: All except CNS
Myeloma associated
Immunoglobulin light chain
AHPrimary
Organs: All except CNS
Myeloma associated
Immunoglobulin heavy chain
ACalC cell thyroid tumors(Pro)calcitonin
ALacCorneaLactotransferrin
AKer Corneal dystrophies
 
TGFBI
ALECT2RenalLeukocyte chemotaxin-2 (LECT2)
ASPCLungsLung surfactant protein
AGal7SkinGalectin 7 (GAL7; LGLAS7)
ACorCornified epithelia
Hair follicles
Corneodesmosin (CDSN)
AOAAPOdontogenic tumorsODAM
ASem1Vesicula seminalisSemenogelin 1 (SEMG1
AEnfIatrogenic (Localized)Enfurvitide
Hereditary component
AFCardiopathicTransthyretin (mutation)
AGel Cornea
Neuropathy
Gelsolin
Lattice corneal dystrophy
Type IIIA
Corneal dystrophy & masses
Cataracts
M1S1
Familial Visceral
  (AFib; AApoAI; ALys)
Renal disease
Organomegaly
Fibrinogen, α-chain (FGA)
Apolipoprotein A-1 (APOA1)
Lysozyme (LYZ)
β2-microglobulin (B2M)
2M (Dialysis-associated)Carpal tunnel syndrome
Cysts: Bone; Tendon sheath
Tendonitis: Hand; Shoulder
Joint effusions& pain
Myelopathy
β2-microglobulin
Amyloidosis, renal (ALys) Renal
Visceral
Lysozyme (LYZ)
AApoAIIRenalApolipoprotein A II (APOA2)
AApoAIVRenal medulla
Systemic
Apolipoprotein A IV (APOA4)
AApoCIIRenalApolipoprotein C II (APOC2)
AApoCIIIRenalApolipoprotein C III (APOC3)
Muckle-Wells syndrome Cold urticaria
Deafness
Renal amyloidosis
NLRP3 (CIAS1)
Multiple endocrine neoplasia
Type 2A
Thyroid carcinoma
Medullary, with amyloid
Pheochromocytoma
Parathyroid adenomas
Cutaneous
Notalgia paresthetica:
T2-T6 posterior rami
RET oncogene
Endocrine (Localized) Cardiac atria
Thyroid
Islets of Langerhans
Pituitary
NPPA
Calcitonin (CALCA)
IAPP
Prolactin
Primary Cutaneous
  (PLCA1)
Skin Oncostatin M receptor-beta
  (OSMR)
Primary Cutaneous
  (PLCA2)
Skin Interleukin 31 receptor A
  (IL31RA)
 
CNS
ClassificationDisease SyndromesProtein
ACys (Amyloidosis VI) Cerebral amyloid angiopathy Cystatin C
Aβ (Amyloid β A4) Alzheimer's disease
Cerebral amyloid angiopathy
Amyloid β A4 precursor
protein (APP)
Amyloid β42 Alzheimer's disease Presenilin 1
Presenilin 2
α-Synuclein (ASyn) Parkinson disease 1 (PARK1)
Parkinson disease 4 (PARK4)
Dementia, Lewy body (DLB)
α-Synuclein (SNCA)
Amyloidoma   AL λ
APrPsc Spongiform encephalopathy Prion protein
ATau Dementia, frontotemporal ±
  Parkinsonism
Pick disease
Supranuclear palsy: PSNP1
Parkinson-Dementia
MAPT
Dysferlin Alzheimer disease
LGMD 2B
Dysferlin
ABri (Familial British)
ADan (Familial Danish)
CNS ± SystemicIntegral membrane protein 2B
  (ITM2B)
 
Muscle
ClassificationDisease SyndromesProtein
Myopathy LGMD 2B
LGMD 2I
LGMD 2L
Dysferlin
FKRP
ANO5


Amyloid myopathy: Acquired 8



Amyloidoma


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References
1. Arch Neurol 2001;58:1914-1918
2. J Neuropath Exp Neurol 2002;61:565-571
3. Science 2003;299:713-716
4. N Engl J Med 2012;366:2276-2283
5. J Peripher Nerv Syst 2012;17:385-390
6. JAMA 2013;310:2658-2667
7. J Clin Oncol 2016 Apr 25
8. Mayo Clin Proc 2016;91:1354-1361
9. Amyloid 2016; Online Nov, Acta Haematol 2020 May 11:1-13
10. Muscle Nerve 2016; Online December
11. Eur J Neurol 2017 Sep 9
12. J Neurol 2017 Dec 16
13. Clin Auton Res 2019 Aug 31
14. Clin Auton Res 2019 Aug 26
15. Clin Auton Res 2019 Aug 26
16. Am J Hematol 2020 Apr 8
17. J Peripher Nerv Syst 2020 May 12
18. Eur J Neurol 2020 Dec 28, BMC Neurol 2021;21:206
19. Neurol Ther 2021 May 22

9/21/2021