Familial amyloidosis laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
OR
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
OR
[Test] is usually normal for patients with [disease name].
OR
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
OR
There are no diagnostic laboratory findings associated with [disease name].
Laboratory Findings
There are no diagnostic laboratory findings associated with [disease name].
OR
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
OR
[Test] is usually normal among patients with [disease name].
OR
Laboratory findings consistent with the diagnosis of [disease name] include:
- [Abnormal test 1]
- [Abnormal test 2]
- [Abnormal test 3]
OR
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
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
- Liver function tests, including:
- AST
- ALT
- Total bilirubin
- Alkaline phosphatase
- Albumin
Renal
- A variety of kidney function tests can suggest amyloidosis.
- These tests include abnormalities in:
- 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 should 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.