Amyloidosis causes: Difference between revisions
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==Causes== | ==Causes== | ||
===Systemic | ===Systemic Amyloidosis=== | ||
====Primary/Hereditary | ====Primary/Hereditary Amyloidosis==== | ||
These rare hereditary disorders are usually due to [[point mutations]] in precursor proteins, and are also usually [[autosomal dominant]]ly transmitted.The precursor proteins are | These rare hereditary disorders are usually due to [[point mutations]] in precursor proteins, and are also usually [[autosomal dominant]]ly transmitted. The precursor proteins are: | ||
* [[Transthyretin]]-the most commonly implicated protein. | * [[Transthyretin]]-the most commonly implicated protein. | ||
* [[Lysozyme]] | * [[Lysozyme]] | ||
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* [[Gelsolin]] | * [[Gelsolin]] | ||
====Secondary | ====Secondary Amyloidosis==== | ||
These are far more common than the primary amyloidoses. | These are far more common than the primary amyloidoses. | ||
* ''AL amyloidosis'' ([[immunoglobulin light chains]] are the precursor protein, overproduced in [[multiple myeloma]]). This is sometimes, confusingly and erroneously, called 'primary amyloidosis'. | * ''AL amyloidosis'' ([[immunoglobulin light chains]] are the precursor protein, overproduced in [[multiple myeloma]]). This is sometimes, confusingly and erroneously, called 'primary amyloidosis'. | ||
Revision as of 13:12, 26 November 2012
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Amyloidosis Microchapters |
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Amyloidosis causes On the Web |
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American Roentgen Ray Society Images of Amyloidosis causes |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Amyloidosis can be systemic or organ specific. In systemic amyloidosis, the secondary form (AL, AA) is much more common than the primary form.
Causes
Systemic Amyloidosis
Primary/Hereditary Amyloidosis
These rare hereditary disorders are usually due to point mutations in precursor proteins, and are also usually autosomal dominantly transmitted. The precursor proteins are:
- Transthyretin-the most commonly implicated protein.
- Lysozyme
- Apolipoprotein B
- Fibrinogen
- Apolipoprotein A1
- Gelsolin
Secondary Amyloidosis
These are far more common than the primary amyloidoses.
- AL amyloidosis (immunoglobulin light chains are the precursor protein, overproduced in multiple myeloma). This is sometimes, confusingly and erroneously, called 'primary amyloidosis'.
- AA amyloidosis (the precursor protein is serum amyloid A protein (SAA), an acute-phase protein due to chronic inflammation). In contrast to AL amyloid, this has previously been termed 'secondary amyloidosis'. These occur with a wide variety of diseases associated with chronic inflammation, such as rheumatoid arthritis, familial Mediterranean fever or chronic infection.
- Dialysis related amyloidosis (the precursor protein is beta-2-microglobulin which is not removed with dialysis, and thus accumulates in patients with end stage renal failure on dialysis).
Organ-specific amyloidosis
In almost all of the organ-specific pathologies, there is significant debate as to whether the amyloid plaques are the causal agent of the disease or instead a downstream consequence of a common idiopathic agent. The associated proteins are indicated in parentheses.
Neurological amyloid
- Alzheimer's disease (Aβ 39-43)
- Parkinson's disease (alpha-synuclein)
- Huntington's disease (huntingtin)
- Transmissible spongiform encephalopathies caused by prion protein (PrP) were sometimes classed as amyloidoses, as one of the four pathological features in diseased tissue is the presence of amyloid plaques. These diseases include
- Creutzfeldt-Jakob disease (PrP in cerebrum)
- Kuru (diffuse PrP deposits in brain)
- Fatal Familial Insomnia (PrP in thalamus)
- Bovine spongiform encephalopathy (PrP in cerebrum of cows)
Cardiovascular amyloid
- Cardiac amyloidosis
- See the chapter on CMR in Cardiac Amyloidosis
- Senile cardiac amyloidosis-may cause heart failure
- Congophilic angiopathy
Other
- Amylin deposition can occur in the pancreas in some cases of type 2 diabetes mellitus