Amyloidosis: Symptoms, Diagnosis, Treatment, Causes

2024 Author: Rachel Wainwright | [email protected]. Last modified: 2023-12-15 07:39

Amyloidosis

The content of the article:

1. Causes and risk factors
2. Forms of the disease
3. Symptoms
4. Diagnostics
5. Treatment
6. Possible complications and consequences
7. Forecast
8. Prevention

Amyloidosis is a systemic disease in which amyloid (protein-polysaccharide substance (glycoprotein)) is deposited in organs and tissues, which leads to disruption of their functions.

Amyloid consists of globular and fibrillar proteins that are closely intertwined with polysaccharides. An insignificant deposition of amyloid in glandular tissues, stroma of parenchymal organs, walls of blood vessels does not cause any clinical symptoms. But with significant amyloid deposits in the organs, pronounced macroscopic changes occur. The volume of the affected organ increases, its tissues acquire a waxy or greasy sheen. In the future, organ atrophy develops with the formation of functional insufficiency.

The incidence of amyloidosis is 1 in 50,000 people. The disease is more common in older people.

Amyloid deposition is a sign of amyloidosis

Causes and risk factors

Amyloidosis usually develops against the background of long-term purulent-inflammatory (bacterial endocarditis, bronchiectasis, osteomyelitis) or chronic infectious (malaria, actinomycosis, tuberculosis) diseases. Somewhat less often, amyloidosis develops in patients with oncological pathology:

• lung cancer;
• kidney cancer;
• leukemia;
• lymphogranulomatosis.

Also, the following diseases can lead to amyloidosis:

• sarcoidosis;
• Whipple's disease;
• Crohn's disease;
• nonspecific ulcerative colitis;
• psoriasis;
• ankylosing spondylitis;
• rheumatoid arthritis;
• atherosclerosis.

There are not only acquired, but also hereditary forms of amyloidosis. These include:

• Mediterranean fever;
• Portuguese neuropathic amyloidosis;
• Finnish amyloidosis;
• Danish amyloidosis.

Factors of amyloidosis:

• genetic predisposition;
• violations of cellular immunity;
• hyperglobulinemia.

Forms of the disease

Depending on the reasons that caused it, amyloidosis is divided into several clinical forms:

• senile (senile);
• hereditary (genetic, family);
• secondary (acquired, reactive);
• idiopathic (primary).

Depending on the organ in which amyloid deposits are predominantly deposited, there are:

• amyloidosis of the kidneys (nephrotic form);
• amyloidosis of the heart (cardiopathic form);
• amyloidosis of the nervous system (neuropathic form);
• amyloidosis of the liver (hepatopathic form);
• adrenal amyloidosis (epinephropathic form);
• ARUD-amyloidosis (amyloidosis of the organs of the neuroendocrine system);
• mixed amyloidosis.

Renal amyloidosis

Also, amyloidosis is local and systemic. With local amyloidosis, a predominant lesion of one organ is noted, with systemic - two or more.

Symptoms

The clinical picture of amyloidosis is diverse: the symptomatology is determined by the duration of the disease, the localization of amyloid deposits and their intensity, the degree of organ dysfunctions, and the peculiarity of the biochemical structure of amyloid.

In the initial (latent) stage of amyloidosis, there are no symptoms. To detect the presence of amyloid deposits is possible only with microscopy. In the future, as the deposits of the pathological glycoprotein increase, functional insufficiency of the affected organ arises and progresses, which determines the features of the clinical picture of the disease.

With renal amyloidosis, moderate proteinuria is noted for a long time. Then nephrotic syndrome develops. The main symptoms of renal amyloidosis are:

• the presence of protein in the urine;
• arterial hypertension;
• swelling;
• chronic renal failure.

For amyloidosis of the heart, a triad of symptoms is characteristic:

• violation of the heart rhythm;
• cardiomegaly;
• progressive chronic heart failure.

In the later stages of the disease, even minor physical exertion leads to the appearance of severe weakness, shortness of breath. Against the background of heart failure, polyserositis may develop:

• effusion pericarditis;
• effusion pleurisy;
• ascites.

With amyloidosis of the gastrointestinal tract, attention is drawn to an increase in the tongue (macroglossia), which is associated with the deposition of amyloid in the thickness of its tissues. Other manifestations:

• nausea;
• heartburn;
• constipation followed by diarrhea;
• impaired absorption of nutrients from the small intestine (malabsorption syndrome);
• gastrointestinal bleeding.

Amyloid lesions of the pancreas usually occur under the guise of chronic pancreatitis. Deposition of amyloid in the liver causes portal hypertension, cholestasis, and hepatomegaly.

With amyloidosis of the skin, waxy nodules appear in the neck, face and natural folds. Often, skin amyloidosis in its course resembles lichen planus, neurodermatitis or scleroderma.

Skin amyloidosis symptoms

With amyloidosis of the musculoskeletal system, the patient develops:

• myopathy;
• humerus periarthritis;
• carpal tunnel syndrome;
• polyarthritis affecting symmetrical joints.

Amyloidosis of the nervous system is severe, which is characterized by:

• persistent headaches;
• dizziness;
• dementia;
• excessive sweating;
• orthostatic collapses;
• paralysis or paresis of the lower extremities;
• polyneuropathy.

Diagnostics

Given that amyloidosis can affect various organs, and the clinical picture of the disease is diverse, its diagnosis presents certain difficulties. The functional state of internal organs can be assessed by:

• Ultrasound;
• Echocardiography;
• ECG;
• radiography;
• gastroscopy (EGDS);
• sigmoidoscopy.

Amyloidosis can be assumed when the following changes are detected in the results of laboratory tests:

• anemia;
• thrombocytopenia;
• hypocalcemia;
• hyponatremia;
• hyperlipidemia;
• hypoproteinemia;
• cylindruria;
• leukocyturia.

For a final diagnosis, it is necessary to perform a puncture biopsy of the affected tissues (mucous membrane of the rectum, stomach, lymph nodes; gums; kidneys), followed by histological examination of the material obtained. Detection of amyloid fibrils in the test sample will confirm the diagnosis.

Treatment

In the treatment of primary amyloidosis, glucocorticoid hormones and cytostatic drugs are used.

In secondary amyloidosis, treatment is directed primarily at the underlying disease. Also prescribed drugs of the 4-aminoquinoline series. A low-protein diet with limited table salt is recommended.

The development of end-stage chronic renal failure is an indication for hemodialysis.

With the development of renal failure, hemodialysis is indicated

Possible complications and consequences

Amyloidosis can be complicated by the following pathologies:

• diabetes;
• liver failure;
• gastrointestinal bleeding;
• renal failure;
• amyloid ulcers of the stomach and esophagus;
• heart failure.

Forecast

Amyloidosis is a chronic progressive disease. In secondary amyloidosis, the prognosis is largely determined by the possibility of therapy for the underlying disease.

With the development of complications, the prognosis worsens. After the onset of symptoms of heart failure, the average life expectancy usually does not exceed several months. The average life expectancy of patients with chronic renal failure is 12 months. This period is slightly increased in the case of hemodialysis.

Prevention

There is no prophylaxis for primary (idiopathic) amyloidosis because the cause is unknown.

For the prevention of secondary amyloidosis, it is important to timely identify and treat infectious, oncological and purulent-inflammatory diseases.

Prevention of genetic forms of amyloidosis consists in medical and genetic counseling of married couples at the stage of pregnancy planning.

YouTube video related to the article:

Elena Minkina Doctor anesthesiologist-resuscitator About the author

Education: graduated from the Tashkent State Medical Institute, specializing in general medicine in 1991. Repeatedly passed refresher courses.

Work experience: anesthesiologist-resuscitator of the city maternity complex, resuscitator of the hemodialysis department.

The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!