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Diagnosis of amyloidosis

Alexey Kryvenko, medical expert
Last reviewed: 06.07.2025

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Amyloidosis should be suspected in nephropathy, persistent severe heart failure, malabsorption syndrome, or polyneuropathy of unknown etiology. In nephrotic syndrome or chronic renal failure, amyloidosis must be excluded in addition to glomerulonephritis. The likelihood of amyloidosis increases with hepatomegaly and splenomegaly.

Laboratory diagnostics of amyloidosis

In the clinical blood test - anemia, leukocytosis, increased ESR; in the biochemical blood test, in almost 80% of cases at the onset of the disease, hypoproteinemia (mainly the albumin fraction is reduced), hyperglobulinemia, hyponatremia, hypoprothrombinemia, hypocalcemia are detected. In case of liver damage, hypercholesterolemia may be observed, in some cases - hyperbilirubinemia, increased alkaline phosphatase activity.
When assessing thyroid function, hypothyroidism may be detected.
When assessing kidney function, manifestations of renal failure are observed. When examining urine, in addition to protein, cylinders, erythrocytes, and leukocytes are found in the sediment.
Coprological examination revealed pronounced steatorrhea, amylorrhea, and creatorrhea.

A reliable method for diagnosing amyloidosis is a kidney biopsy. Quite often, amyloid is also detected during a biopsy of the rectum, liver, and gums. In the case of isolated heart disease, the diagnosis can be made during an endomyocardial biopsy.

Differential diagnosis of amyloidosis

Amyloidosis is differentiated from a large group of diseases.

For gastrointestinal tract lesions - with chronic gastritis, gastric ulcer and duodenal ulcer.
In case of peripheral polyneuropathy - with diabetes mellitus, alcoholism, deficiency of certain vitamins.
In metacarpal tunnel syndrome - with hypothyroidism, traumatic injury.
In restrictive cardiomyopathy - with acute myocarditis of viral etiology, endomyocardial fibrosis, sarcoidosis, hemochromatosis.
In nephrotic syndrome - with glomerulonephritis, renal vein thrombosis.
In chronic renal failure - with glomerulonephritis, urinary tract obstruction, toxic effects on the kidneys, acute tubular necrosis.
With symmetrical polyarthritis - with rheumatoid arthritis, psoriatic arthritis, systemic lupus erythematosus.
In interstitial lung disease - with fibrosing alveolitis, sarcoidosis, pneumoconiosis.
In dementia - with Alzheimer's disease, dementia with multiple cerebral infarctions.

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