Amyloidosis: Difference between revisions
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==Background== | ==Background== | ||
*Accumulation of proteins (amyloid fibrils) in tissues | *Accumulation of proteins (amyloid fibrils) in tissues<ref>Rubin J, Maurer MS. Cardiac Amyloidosis: Overlooked, Underappreciated, and Treatable. Annu Rev Med. 2020 Jan 27;71:203-219. PMID 31986086</ref> | ||
*Heart and kidneys most commonly affected organs | *Heart and kidneys most commonly affected organs | ||
*Causes: | *Causes: | ||
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==Clinical Features== | ==Clinical Features== | ||
[[File:PMC3495844 1750-1172-7-54-1.png|thumb|Systemic light change amyloidosis: A. Macroglossia with lateral scalloping of the tongue. B. Bilateral periorbital purpura. C. Pseudo athletic appearance secondary to diffuse muscular infiltration. D. Voluminous hepatomegaly due to primary hepatic amyloidosis. E. Diffuse bilateral interstitial lung disease. F. Submandibular gland enlargement. G-H. Localized AL amyloidosis. G. Nodular conjunctival amyloidosis. H. Laryngeal supraglottic amyloid lump.]] | |||
*[[Nephrotic syndrome]] with kidney involvement | *[[Nephrotic syndrome]] with kidney involvement | ||
*Restrictive [[cardiomyopathy]] | *Restrictive [[cardiomyopathy]] | ||
Latest revision as of 10:59, 22 March 2026
Background
- Accumulation of proteins (amyloid fibrils) in tissues[1]
- Heart and kidneys most commonly affected organs
- Causes:
- Primary amyloidosis, hereditary amyloidosis
- Secondary (due to systemic inflammatory condition)
- ESRD-associated (caused by β2-microglobulin amyloids, not filtered out by dialysis membranes))
- Senile amyloidosis (causes cardiac amyloid)
Clinical Features
Systemic light change amyloidosis: A. Macroglossia with lateral scalloping of the tongue. B. Bilateral periorbital purpura. C. Pseudo athletic appearance secondary to diffuse muscular infiltration. D. Voluminous hepatomegaly due to primary hepatic amyloidosis. E. Diffuse bilateral interstitial lung disease. F. Submandibular gland enlargement. G-H. Localized AL amyloidosis. G. Nodular conjunctival amyloidosis. H. Laryngeal supraglottic amyloid lump.
- Nephrotic syndrome with kidney involvement
- Restrictive cardiomyopathy
- Sensory and autonomic neuropathies (no CNS involvement)
- Sensory neuropathy: symmetrical pattern, progresses distal to proximal
- Autonomic neuropathy: orthostatic hypotension or nonspecific GI symptoms
- Hepatomegaly, elevated serum AST and AlkPhos
- Diabetes secondary to pancreatic infiltration
- Macroglossia
Differential Diagnosis
Evaluation
- Evaluate for other causes of symptoms
- Diagnosis via fat pad biopsy: apple-green birefringence with Congo red stain
Management
- Varies depending on underlying etiology and organ systems involved
Disposition
See Also
External Links
References
- ↑ Rubin J, Maurer MS. Cardiac Amyloidosis: Overlooked, Underappreciated, and Treatable. Annu Rev Med. 2020 Jan 27;71:203-219. PMID 31986086