Familial amyloidosis laboratory findings: Difference between revisions
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{{Familial amyloidosis}} | {{Familial amyloidosis}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{F.K}} | ||
==Overview== | ==Overview== | ||
Laboratory findings in amyloidosis include elevated [[erythrocyte sedimentation rate]], increased [[BUN]] level, serum [[creatinine]], protein, casts, or fat bodies in urine. Serum [[troponin]], [[B-type natriuretic peptide]], and [[beta-2-microglobulin]] are prognostic markers for [[heart failure]]. Amyloid deposits can be identified [[histologically]] by [[Congo red]] staining and viewing under [[polarized light]] where amyloid deposits produce a distinctive 'apple green birefringence'. Alternatively, [[Thioflavin|thioflavin T]] stain may be used. An abdominal fat pad aspiration, rectal mucosa biopsy, or bone marrow biopsy can help confirm the diagnosis. They reveal positive findings in 80% patients. | Laboratory findings in amyloidosis include elevated [[erythrocyte sedimentation rate]], increased [[BUN]] level, serum [[creatinine]], protein, casts, or fat bodies in urine. Serum [[troponin]], [[B-type natriuretic peptide]], and [[beta-2-microglobulin]] are prognostic markers for [[heart failure]]. Amyloid deposits can be identified [[histologically]] by [[Congo red]] staining and viewing under [[polarized light]] where amyloid deposits produce a distinctive 'apple green birefringence'. Alternatively, [[Thioflavin|thioflavin T]] stain may be used. An abdominal fat pad aspiration, rectal mucosa biopsy, or bone marrow biopsy can help confirm the diagnosis. They reveal positive findings in 80% patients. | ||
Revision as of 18:24, 30 October 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Farima Kahe M.D. [2]
Overview
Laboratory findings in amyloidosis include elevated erythrocyte sedimentation rate, increased BUN level, serum creatinine, protein, casts, or fat bodies in urine. Serum troponin, B-type natriuretic peptide, and beta-2-microglobulin are prognostic markers for heart failure. Amyloid deposits can be identified histologically by Congo red staining and viewing under polarized light where amyloid deposits produce a distinctive 'apple green birefringence'. Alternatively, thioflavin T stain may be used. An abdominal fat pad aspiration, rectal mucosa biopsy, or bone marrow biopsy can help confirm the diagnosis. They reveal positive findings in 80% patients.
Laboratory Findings
Cardiac
- Cardiac biomarkers are the most important predictors of outcome in amyloidosis.
- They provide a quantitative assessment for cardiac damage and wall strain.[1]
- The biomarkers include:
- Troponin I or Troponin T
- BNP and NT-proBNP
Hepatic
- Common tests that are abnormal in liver function tests including:
- AST
- ALT
- Total bilirubin
- Alkaline phosphatase
- Albumin
Renal
- Serum creatinine
- Urinary protein
- Glomerular filtration rate
- Albumin to creatinine ratio in the urine
Thyroid
- Common tests that are abnormal in thyroidal involvement of amyloidosis include:
- TSH
- Free T4
Bone marrow
- Concurrent multiple myeloma can be found in patients with amyloidosis. In such cases laboratory testing include[2]:
- Serum protein electrophoresis
- Immunoglobulin levels
- Serum free light chains
- Beta-2-microglobulin
References
- ↑ Merlini G, Seldin DC, Gertz MA (May 2011). "Amyloidosis: pathogenesis and new therapeutic options". J. Clin. Oncol. 29 (14): 1924–33. doi:10.1200/JCO.2010.32.2271. PMC 3138545. PMID 21483018.
- ↑ Kourelis TV, Kumar SK, Gertz MA, Lacy MQ, Buadi FK, Hayman SR; et al. (2013). "Coexistent multiple myeloma or increased bone marrow plasma cells define equally high-risk populations in patients with immunoglobulin light chain amyloidosis". J Clin Oncol. 31 (34): 4319–24. doi:10.1200/JCO.2013.50.8499. PMC 4881366. PMID 24145344.