Amyloidosis

Amyloidosis is a disorder of protein metabolism, accompanied by the formation of a specific protein-polysaccharide complex (amyloid) in tissues and damage to many organs and systems.

ICD-10 code

• E85 Amyloidosis.
• E85.0 Hereditary familial amyloidosis without neuropathy.
• E85.1 Neurotic hereditary familial amyloidosis.
• E85.2 Hereditary familial amyloidosis, unspecified.
• E85.3 Secondary systemic amyloidosis.
• E85.4 Limited amyloidosis.
• E85.8 Other forms of amyloidosis.
• E85.9 Amyloidosis, unspecified.

Epidemiology of amyloidosis

The incidence of primary amyloidosis is the same among men and women. The age of onset of the disease ranges from 17 to 60 years, and the duration of the disease ranges from several months to 23 years. The timing of the onset of the disease is difficult to establish, since the first clinical manifestations do not correspond to the onset of amyloid deposition.

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Causes and pathogenesis of amyloidosis

Depending on the etiology and pathogenesis features, idiopathic (primary), acquired (secondary), hereditary (genetic), local amyloidosis, amyloidosis in myeloma disease and APUD amyloidosis are distinguished. Secondary amyloidosis is the most common, which is similar in origin to non-specific (in particular immune) reactions. It develops in rheumatoid arthritis, ankylosing spondylitis, tuberculosis, chronic osteomyelitis, bronchiectasis, less often in lymphogranulomatosis, tumors of the kidney, lung and other organs, syphilis, non-specific ulcerative colitis, Crohn's and Whipple's diseases, subacute infective endocarditis, psoriasis, etc.

What causes amyloidosis?

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Symptoms of amyloidosis

Clinical manifestations of amyloidosis are varied and depend on the localization of amyloid deposits and their prevalence. Localized forms of amyloidosis, such as cutaneous amyloidosis, are asymptomatic for a long time, as is senile amyloidosis, in which amyloid deposits in the brain, pancreas, and heart are often detected only at autopsy.

Symptoms of amyloidosis

Classification of amyloidosis

According to the classification of the Nomenclature Committee of the International Union of Immunological Societies (WHO Bulletin, 1993), five forms of amyloidosis are distinguished.

• AL amyloidosis (A - amyloidosis, L - light chains) - primary, associated with myeloma disease (amyloidosis is recorded in 10-20% of cases of myeloma disease).
• AA amyloidosis (acquired amyloidosis) is a secondary amyloidosis associated with chronic inflammatory, rheumatic diseases, as well as with familial Mediterranean fever (periodic disease).
• ATTR amyloidosis (A - amyloidosis, amyloidosis, TTR - transthyretin) - hereditary familial amyloidosis (familial amyloid polyneuropathy) and senile systemic amyloidosis.
• Aβ ₂ M-amyloidosis (A - amyloidosis, amyloidosis, β ₂ M - β ₂ -microglobulin) - amyloidosis in patients undergoing planned hemodialysis.
• Localized amyloidosis most often develops in elderly people (AIAPP amyloidosis - in non-insulin-dependent diabetes mellitus, AV amyloidosis - in Alzheimer's disease, AANF amyloidosis - senile atrial amyloidosis).

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Diagnosis of amyloidosis

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.

Diagnosis of amyloidosis

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Treatment of amyloidosis

In secondary amyloidosis, the underlying disease is treated: in rheumatic diseases, immunosuppressive therapy is selected to suppress the activity of the disease, in chronic purulent processes, antibiotics or surgical treatment are used, in oncological diseases, tumors are removed, etc.

How is amyloidosis treated?

Prevention of amyloidosis

Prevention of primary amyloidosis has not been developed. In secondary amyloidosis, prevention comes down to timely detection and adequate treatment of diseases that may cause its development.

Forecast

The prognosis for developed amyloidosis is unfavorable. Most patients die within a few years from renal failure. In some cases, remission may develop with colchicine and treatment of the underlying disease.

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