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.
• 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:

• Serum protein electrophoresis
• Immunoglobulin levels
• Serum free light chains
• Beta-2-microglobulin