Amyloidosis
Updates to Article Attributes
Amyloidosis (plural: amyloidoses)is a heterogeneous disease, or even considered a constellation of diseases, resulting in the deposition of relatively similar proteins. It has many causes and can affect any organ system.
Epidemiology
The disease may have a male predilection. It typically affects middle-aged individuals around 60 years 5.
Clinical presentation
In view of the vast variety of clinical forms of amyloidosis, the potential spectrum of symptoms and signs is extremely broad, and can present in almost any way.
Pathology
Amyloid comprises a group of proteins characterised by certain physical properties. There are at least 15 amyloid proteins, derived from diverse precursors. Some demonstrate the structural morphology of immunoglobulins, i.e. amyloid light chain.
Subtypes
primary amyloidosis: associated with monoclonal plasma cell dyscrasias
-
secondary amyloidosis: usually occurs secondary to a tissue destructive and inflammatory process
hereditary amyloidosis: can be seen with familial Mediterranean fever (FMF)
senile amyloidosis
localised amyloidosis: sometimes classified as a separate entity with the above four accounting for the systemic forms
dialysis-related amyloidosis 7:can occur with either haemodialysis or peritoneal dialysis
In certain scenarios, the amyloid proteins are produced and deposited locally, whereas in others, the protein is distributed systemically.
Systemic amyloidosis
The majority occur in the systemic form:
-
AL (amyloid light chain)
synthesised by plasma cells, and seen in conditions with monoclonal proliferation of these cells
-
AA (amyloid associated)
derived from SAA (serum amyloid A) protein which is synthesised by the liver and forms part of the HDL3 lipoproteins
typically seen in chronic inflammatory disease or familial Mediterranean fever
-
Aß2M (amyloid ß2-microglobulin)
derived from ß2-microglobulin
seen in patients on haemodialysis or peritoneal dialysis
hereditary (AApoA1) (apolipoprotein)
hereditary (AFib) (mutant fibrinogen)
hereditary (ALys) (lysozyme)
-
ATTR (amyloid transthyretin)
seen in senile systemic amyloidosis/neuropathic cerebral angiopathy
is the most common form of familial amyloidosis 5
Localised amyloidosis
Accounts for ≈15% of amyloidosis:
A4ß2 (beta-amyloid protein): seen in Alzheimer disease
AANF (atrial natriuretic factor): isolated atrial amyloidosis
AIAPP (islet amyloid peptide): deposited in the pancreas in patients with type II diabetes mellitus
ACal: seen in medullary islet cell tumour
Finnish-type (AGel) (Gelsolin); Lattice dystrophy of cornea, corneal neuropathy
Organ-specific amyloidosis
Amyloid deposition can occur in any part of the body, although some are more common and have specific imaging findings. These conditions are best discussed separately:
-
amyloid myopathy
Microscopic appearance
Amyloid is an insoluble extracellular proteinaceous substance composed of cross-ß-pleated sheets which display apple-green birefringence when viewed under polarised light after being treated with Congo red stain 1.
Associations
multiple myeloma (with primary amyloidosis)
History and etymology
The word “amylon” was first used in 1834 by the German botanist Matthias Schleiden to describe the waxy starch in plants.
Rudolph Virchow then coined the word “amyloid” in 1854 to describe tissue deposits that stained like cellulose when exposed to iodine.
- +<li><p><strong>primary amyloidosis</strong>: associated with <a href="/articles/monoclonal-plasma-cell-dyscrasias">monoclonal plasma cell dyscrasias</a></p></li>
-<strong>primary amyloidosis</strong>: associated with <a href="/articles/monoclonal-plasma-cell-dyscrasias">monoclonal plasma cell dyscrasias</a>-</li>-<li>-<strong>secondary amyloidosis</strong>: usually occurs secondary to a tissue destructive and inflammatory process<ul>-<li><a href="/articles/tuberculosis">tuberculosis </a></li>-<li><a href="/articles/rheumatoid-arthritis">rheumatoid arthritis</a></li>-<li><a href="/articles/multiple-myeloma-1">multiple myeloma </a></li>-<li><a href="/articles/crohn-disease-1">Crohn disease</a></li>-<li><a href="/articles/ankylosing-spondylitis-1">ankylosing spondylitis</a></li>-<li><a href="/articles/sjogren-syndrome-1">Sjogren syndrome</a></li>-<li><a href="/articles/dermatomyositis">dermatomyositis</a></li>- +<p><strong>secondary amyloidosis</strong>: usually occurs secondary to a tissue destructive and inflammatory process</p>
- +<ul>
- +<li><p><a href="/articles/tuberculosis">tuberculosis</a></p></li>
- +<li><p><a href="/articles/rheumatoid-arthritis">rheumatoid arthritis</a></p></li>
- +<li><p><a href="/articles/multiple-myeloma-1">multiple myeloma</a></p></li>
- +<li><p><a href="/articles/crohn-disease-1">Crohn disease</a></p></li>
- +<li><p><a href="/articles/ankylosing-spondylitis-1">ankylosing spondylitis</a></p></li>
- +<li><p><a href="/articles/sjogren-syndrome-1">Sjogren syndrome</a></p></li>
- +<li><p><a href="/articles/dermatomyositis">dermatomyositis</a></p></li>
- +<li><p><strong>hereditary amyloidosis</strong>: can be seen with <a href="/articles/familial-mediterranean-fever">familial Mediterranean fever (FMF)</a></p></li>
- +<li><p><strong>senile amyloidosis</strong></p></li>
- +<li><p><strong>localised amyloidosis</strong>: sometimes classified as a separate entity with the above four accounting for the systemic forms</p></li>
- +<li><p><a href="/articles/dialysis-related-amyloidosis" title="dialysis-related amyloidosis"><strong>dialysis-related amyloidosis</strong></a><sup> 7</sup>:<strong> </strong>can occur with either haemodialysis or peritoneal dialysis</p></li>
- +</ul><p>In certain scenarios, the amyloid proteins are produced and deposited locally, whereas in others, the protein is distributed systemically. </p><h6>Systemic amyloidosis</h6><p>The majority occur in the systemic form:</p><ul>
-<strong>hereditary amyloidosis</strong>: can be seen with <a href="/articles/familial-mediterranean-fever">familial Mediterranean fever (FMF)</a>- +<p>AL (amyloid light chain)</p>
- +<ul><li><p>synthesised by plasma cells, and seen in conditions with monoclonal proliferation of these cells</p></li></ul>
-<li><strong>senile amyloidosis</strong></li>-<li>-<strong>localised amyloidosis</strong>: sometimes classified as a separate entity with the above four accounting for the systemic forms</li>-<a title="dialysis-related amyloidosis" href="/articles/dialysis-related-amyloidosis"><strong>dialysis-related amyloidosis</strong></a><sup> 7</sup>:<strong> </strong>can occur with either haemodialysis or peritoneal dialysis</li>-</ul><p>In certain scenarios, the amyloid proteins are produced and deposited locally, whereas in others, the protein is distributed systemically. </p><h6>Systemic amyloidosis</h6><p>The majority occur in the systemic form:</p><ul>-<li>AL (amyloid light chain)<ul><li>synthesised by plasma cells, and seen in conditions with monoclonal proliferation of these cells</li></ul>-</li>-<li>AA (amyloid associated)<ul>-<li>derived from SAA (serum amyloid A) protein which is synthesised by the liver and forms part of the HDL3 lipoproteins</li>-<li>typically seen in chronic inflammatory disease or <a href="/articles/familial-mediterranean-fever">familial Mediterranean fever</a>-</li>- +<p>AA (amyloid associated)</p>
- +<ul>
- +<li><p>derived from SAA (serum amyloid A) protein which is synthesised by the liver and forms part of the HDL3 lipoproteins</p></li>
- +<li><p>typically seen in chronic inflammatory disease or <a href="/articles/familial-mediterranean-fever">familial Mediterranean fever</a></p></li>
-<li>Aß<sub>2</sub>M (amyloid ß<sub>2</sub>-microglobulin)<ul>-<li>derived from ß<sub>2</sub>-microglobulin</li>-<li>seen in patients on haemodialysis or peritoneal dialysis</li>- +<li>
- +<p>Aß<sub>2</sub>M (amyloid ß<sub>2</sub>-microglobulin)</p>
- +<ul>
- +<li><p>derived from ß<sub>2</sub>-microglobulin</p></li>
- +<li><p>seen in patients on haemodialysis or peritoneal dialysis</p></li>
-<li>hereditary (AApoA1) (apolipoprotein)</li>-<li>hereditary (AFib) (mutant fibrinogen) </li>-<li>hereditary (ALys) (lysozyme)</li>-<li>ATTR (amyloid transthyretin)<ul>-<li>seen in <a href="/articles/senile-systemic-amyloidosis">senile systemic amyloidosis</a>/neuropathic cerebral angiopathy</li>-<li>is the most common form of familial amyloidosis <sup>5</sup>-</li>- +<li><p>hereditary (AApoA1) (apolipoprotein)</p></li>
- +<li><p>hereditary (AFib) (mutant fibrinogen) </p></li>
- +<li><p>hereditary (ALys) (lysozyme)</p></li>
- +<li>
- +<p>ATTR (amyloid transthyretin)</p>
- +<ul>
- +<li><p>seen in <a href="/articles/senile-systemic-amyloidosis">senile systemic amyloidosis</a>/neuropathic cerebral angiopathy</p></li>
- +<li><p>is the most common form of familial amyloidosis <sup>5</sup></p></li>
-<li>A<sub>4</sub>ß<sub>2</sub> (beta-amyloid protein): seen in <a href="/articles/alzheimer-disease">Alzheimer disease</a>-</li>-<li>AANF (atrial natriuretic factor): <a href="/articles/isolated-atrial-amyloidosis">isolated atrial amyloidosis</a>-</li>-<li>AIAPP (islet amyloid peptide): deposited in the pancreas in patients with type II diabetes mellitus</li>-<li>ACal: seen in medullary islet cell tumour</li>-<li>Finnish-type (AGel) (Gelsolin); Lattice dystrophy of cornea, corneal neuropathy</li>- +<li><p>A<sub>4</sub>ß<sub>2</sub> (beta-amyloid protein): seen in <a href="/articles/alzheimer-disease">Alzheimer disease</a></p></li>
- +<li><p>AANF (atrial natriuretic factor): <a href="/articles/isolated-atrial-amyloidosis">isolated atrial amyloidosis</a></p></li>
- +<li><p>AIAPP (islet amyloid peptide): deposited in the pancreas in patients with type II diabetes mellitus</p></li>
- +<li><p>ACal: seen in medullary islet cell tumour</p></li>
- +<li><p>Finnish-type (AGel) (Gelsolin); Lattice dystrophy of cornea, corneal neuropathy</p></li>
-<li><a href="/articles/breast-amyloidosis">breast amyloidosis</a></li>-<li><a href="/articles/cardiac-amyloidosis">cardiac amyloidosis</a></li>- +<li><p><a href="/articles/breast-amyloidosis">breast amyloidosis</a></p></li>
- +<li><p><a href="/articles/cardiac-amyloidosis">cardiac amyloidosis</a></p></li>
-<a href="/articles/cerebral-amyloid-deposition-diseases">cerebral amyloid deposition diseases</a><ul>-<li><a href="/articles/alzheimer-disease">Alzheimer disease</a></li>-<li><a href="/articles/cerebral-amyloid-angiopathy-1">cerebral amyloid angiopathy</a></li>-<li><a href="/articles/inflammatory-cerebral-amyloid-angiopathy-1">cerebral amyloid angiopathy-related inflammation</a></li>-<li><a href="/articles/cerebral-amyloidoma">cerebral amyloidoma</a></li>- +<p><a href="/articles/cerebral-amyloid-deposition-diseases">cerebral amyloid deposition diseases</a></p>
- +<ul>
- +<li><p><a href="/articles/alzheimer-disease">Alzheimer disease</a></p></li>
- +<li><p><a href="/articles/cerebral-amyloid-angiopathy-1">cerebral amyloid angiopathy</a></p></li>
- +<li><p><a href="/articles/inflammatory-cerebral-amyloid-angiopathy-1">cerebral amyloid angiopathy-related inflammation</a></p></li>
- +<li><p><a href="/articles/cerebral-amyloidoma">cerebral amyloidoma</a></p></li>
-<li><a href="/articles/gastrointestinal-amyloidosis">gastrointestinal amyloidosis</a></li>-<li><a href="/articles/hepatic-amyloidosis">hepatic amyloidosis</a></li>-<li><a href="/articles/pulmonary-amyloidosis">pulmonary amyloidosis</a></li>-<li><a href="/articles/renal-amyloidosis">renal amyloidosis</a></li>-<li>-<a href="/articles/skeletal-amyloidosis">skeletal amyloidosis</a><ul><li><a href="/articles/amyloid-arthropathy">amyloid arthropathy</a></li></ul>-</li>-<li><a href="/articles/splenic-amyloidosis">splenic amyloidosis</a></li>-<li><a href="/articles/tracheobronchial-amyloidosis">tracheobronchial amyloidosis</a></li>-<li><a href="/articles/urinary-tract-amyloidosis">urinary tract amyloidosis</a></li>-<li>-<a href="/articles/laryngeal-amyloidosis">laryngeal amyloidosis</a> <sup>9</sup>- +<li><p><a href="/articles/gastrointestinal-amyloidosis">gastrointestinal amyloidosis</a></p></li>
- +<li><p><a href="/articles/hepatic-amyloidosis">hepatic amyloidosis</a></p></li>
- +<li><p><a href="/articles/pulmonary-amyloidosis">pulmonary amyloidosis</a></p></li>
- +<li><p><a href="/articles/renal-amyloidosis">renal amyloidosis</a></p></li>
- +<li>
- +<p><a href="/articles/skeletal-amyloidosis">skeletal amyloidosis</a></p>
- +<ul>
- +<li><p><a href="/articles/amyloid-arthropathy">amyloid arthropathy</a></p></li>
- +<li><p><a href="/articles/amyloid-arthropathy">amyloid </a>myopathy</p></li>
- +</ul>
-</ul><h5>Microscopic appearance</h5><p>Amyloid is an insoluble extracellular proteinaceous substance composed of cross-ß-pleated sheets which display apple-green birefringence when viewed under polarised light after being treated with Congo red stain <sup>1</sup>.</p><h5>Associations </h5><ul><li>-<a href="/articles/multiple-myeloma-1">multiple myeloma</a> (with primary amyloidosis)</li></ul><h4>History and etymology</h4><p>The word “amylon” was first used in 1834 by the German botanist Matthias Schleiden to describe the waxy starch in plants.</p><p>Rudolph Virchow then coined the word “amyloid” in 1854 to describe tissue deposits that stained like cellulose when exposed to iodine.</p>- +<li><p><a href="/articles/splenic-amyloidosis">splenic amyloidosis</a></p></li>
- +<li><p><a href="/articles/tracheobronchial-amyloidosis">tracheobronchial amyloidosis</a></p></li>
- +<li><p><a href="/articles/urinary-tract-amyloidosis">urinary tract amyloidosis</a></p></li>
- +<li><p><a href="/articles/laryngeal-amyloidosis">laryngeal amyloidosis</a> <sup>9</sup></p></li>
- +</ul><h5>Microscopic appearance</h5><p>Amyloid is an insoluble extracellular proteinaceous substance composed of cross-ß-pleated sheets which display apple-green birefringence when viewed under polarised light after being treated with Congo red stain <sup>1</sup>.</p><h5>Associations </h5><ul><li><p><a href="/articles/multiple-myeloma-1">multiple myeloma</a> (with primary amyloidosis)</p></li></ul><h4>History and etymology</h4><p>The word “amylon” was first used in 1834 by the German botanist Matthias Schleiden to describe the waxy starch in plants.</p><p>Rudolph Virchow then coined the word “amyloid” in 1854 to describe tissue deposits that stained like cellulose when exposed to iodine.</p>