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Dr Vishal Saxena MBBS,MD(Path),FICMR
Amyloidosis Dr Vishal Saxena MBBS,MD(Path),FICMR Win 2009
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Amyloidosis Definition:
A group of diseases characterized by the deposition of an extracellular protein k/a amyloid which causes Deposition of amyloid in extracellular spaces which causes a. pressure atrophy of the adjacent cells b. organ dysfunction. Win 2009
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Properties of amyloid Amyloid is a fibrillar protein. Individual subunits form Twisted β- pleated sheet Characteristics: Amorphous eosinophilic deposits on H & E stain Deposits stain red with Congo Red stain Demonstrates Apple green birefringence under polarized light. Electron microscopy: Linear, non-branching fiber with hollow cores. Win 2009
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Amyloidosis of the kidney
The glomerular architecture is almost totally obliterated by the massive accumulation of amyloid. Amyloidosis of the kidney Win 2009
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Yellow-green birefringence( polarized light)
Congo red Stain Amyloidosis: A:A section of the liver stained with Congo red reveals pink-red deposits of amyloid in the walls of blood vessels and along sinusoids. B:Note the yellow-green birefringence of the deposits when observed by polarizing microscope. Win 2009 Yellow-green birefringence( polarized light)
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Major types of amyloid proteins & causes
Amyloid light chain (AL) Derived from light chains of Ig kappa or lambda light chains (e.g Bence Jones protein) Amyloid associated (AA) Derived from serum associated amyloid An acute phase reactant produced by liver ( inflammation and neoplasia) β-Amyloid (Aβ) Derived from β amyloid precursor protein. protein product of chromosome 21 Win 2009
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Amyloidosis: types Systemic Localized Win 2009
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Systemic amyloidosis Primary amyloidosis: Type of amyloid: AL amyloid
Derived from Precursor protein : Immunoglobulin light chain (λ chain) Associated with Multiple myeloma. Reactive systemic amyloidosis (secondary amyloidosis): Type of amyloid: AA amyloid Derived from Precursor protein : SAA Associated with Rheumatoid arthritis, SLE, TB, Osteomyelitis, Crohn disease, cancer. Win 2009
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Systemic amyloidosis Familial Mediterranean fever: Type of amyloid: AA
Derived from Precursor protein : SAA Autosomal recessive disease Recurrent inflammation, fever, and neutrophil dysfunction (mutant pyrin gene). Familial amyloidotic neuropathy : Autosomal D Type of amyloid : ATTR (mutant form of Transthyretin) Derived from Precursor protein: Transthyretin Win 2009
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Systemic amyloidosis Senile systemic amyloidosis: Transthyretin
Type of amyloid: ATTR Derived from Precursor protein: Transthyretin Men > 70 years old ; May cause heart failure – restrictive cardiomyopathy & arrthymias Hemodialysis- associated amyloidosis: Type of amyloid: Aβ2M Derived from β2-microglobulin May cause carpal tunnel syndrome and joint disease. Win 2009
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Localized types of amyloid
Senile cerebral amyloidosis: Type of amyloid Aβ Derived from Precursor protein: βAPP Found in Alzhiemer plaques in the brain and in cerebral vessels The gene for βAPP is located on chromosome 21. Isolated atrial amyloidosis Type of amyloid AANF Derived from Precursor protein Atrial natriuretic factor CNS: Alzheimer’s disease Β amyloid protein coded by chromosome 21. Amyloid toxic to neurons MC COD in Down’s syndrome patients >40 years Win 2009
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Localized types of amyloid
Endocrine type: Type of amyloid : A cal (calcitonin) Derived from Calcitonin : Medullary carcinoma of thyroid Type of amyloid: AIPP (amylin) Derived from Islet amyloid peptide Adult onset Diabetes Mellitus (TYPE II) Prion Disease (CJD; KURU) Pathologic infections prion – PrPsc Win 2009
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Amyloidosis in Multiple Myeloma
Elderly patient ; multiple osteolytic lesion; increased serum monoclonal Ig ( M spike) Win 2009
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Amyloidosis in medullary carcinoma thyroid
Win 2009
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Senile cardiac Amyloidosis
The atrophic myocardial fibers are separated by structureless, pink-staining amyloid (arrows). Win 2009
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Amyloidosis in Alzhiemer’s disease
Central amyloid angiopathy Neuritic /Senile plaques Win 2009
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Amyloidosis in Prion disease - CJD
Spongiform changes in the brain Cerebral atrophy Win 2009
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Distribution of disease in systemic forms
Common sites of involvement Heart, spleen, tongue, adrenals, liver and kidney. Renal system: Kidney most common organ involved Renal failure is the most common cause of death (nephrotic syndrome) Cardiovascular system: Restrictive cardiomyopathy low voltage EKG, cardiac arrhythmias and CHF Gastrointestinal system: Macroglossia, malabsorption, hepatomegaly with increased alkaline phosphatase. Musculoskeletal system: Carpal tunnel syndrome common Win 2009
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Techniques used to diagnose amyloidosis
Biopsy of Rectal mucosa / gingiva / omental pad of fat or the organ involved. Immunoelectrophoresis to detect light chains in primary amyloidosis. Prognosis: The prognosis of systemic amyloidosis is poor Win 2009
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AL (Immunoglobulin light chain)
Multiple Myeloma, other plasma cell dyscrasias, B-cell lymphoma AA (Apo serum amyloid A) Chronic diseases (RA, Ankylosing spondylitis, SLE, TB, Crohn disease, Chronic bronchitis, bronchiectasis, Ca) ATTR (Transthyretin) Familial Amyloidotic polyneuropathy Myocardial infarction A beta 2 microgolobulin Hemodialysis A beta (Beta protein precursor) Alzheimer’s disease, Down’s syndrome AANF Isolated atrial amyloidosis A cal (Calcitonin) Medullary carcinoma thyroid AIPP (Amylin) DM Type II APrP amyloid-spongioform encephalopathy. Afib-Hereditary renal amyloidosis.
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Win 2009
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