Amiloidoz

Description amyloidosis

Amyloidosis is a group of rare diseases. It involves deposition of amyloid protein. This protein accumulates in the tissues and organs. There are three basic forms:

• Primary amiloidoz, deposits are located in the heart, light, skin, language, thyroid, intestine, liver, kidney and blood vessels;
• Вторичный амилоидоз – белок находится в селезенке, liver, kidney, adrenal glands, and lymph nodes;
• Наследственный амилоидоз отложения – в нервах, heart, kidney and blood vessels.

The accumulation of amyloid may hinder the functioning of organs or tissues.

Prichinы amyloidosis

Causes of amyloidosis vary in its different forms.

• Первичный амилоидоз – вызван накоплением фрагментов антител, often it occurs as a result of diseases of the bone marrow (mnozhestvennaya myeloma);
• Вторичный амилоидоз – развивается в ответ на хроническую инфекцию или воспалительное заболевание;
• Hereditary amyloidosis, caused by mutations of amyloid in the blood.

Faktorы risk amyloidosis

Factors, which may increase the likelihood of amyloidosis include:

• Primary amyloidosis:
  • Пол – мужчины подвержены большему риску;
  • Возраст – старше 40 years;
  • Mnozhestvennaya myeloma;
• Secondary amyloidosis:
  • Пол – мужчины подвержены большему риску;
  • Возраст – старше 40 years;
  • Chronic inflammatory and infectious diseases, such as: tuberculosis, rheumatoid arthritis, osteomyelitis;
  • Mediterranean fever;
  • Гемодиализ – отбор крови из артерий, purification, adding nutrients, and returning it into the vein;
  • Anamnesis;
• Hereditary amyloidosis:
  • Nationality: Portuguese, Swedes, Japanese;
  • The presence of the family Mediterranean fever patients.

Simptomы amyloidosis

When these symptoms should see a doctor:

Symptoms for all forms of amyloidosis:

• Fatigue;
• Weight loss;
• Enlarged liver;
• Irritability;
• Signs of heart failure.

The extent of the disease and the type of the affected organ will also help identify additional symptoms, if any. Their level can vary from mild to severe. Below is a list of additional symptoms, which relate to specific systems of the body:

• Мочевые пути – почечная недостаточность;
• Кожа – легкие морщины, purple color (reddish skin around the eyes, caused by leakage of blood from the capillaries);
• Лимфатическая система – увеличение лимфатических узлов;
• Эндокринная система – увеличение щитовидной железы;
• Digestive system:
  • Difficulty swallowing;
  • Swollen tongue;
  • Enlarged liver;
  • Diarrhea;
  • Ileus:
  • Malabsorption (inadequate absorption of nutrients from the intestinal tract);
  • Light brown chair;
• Neurological System:
  • Слабоумие – возможно развитие болезни Альцгеймера;
  • Insensitivity, pricking, weakness in the arms and legs;
  • Swelling in the wrist;
  • Weakness in hands;
• Cardiovascular system:
  • Accumulation of fluid, causing swelling in the tissues;
  • Abnormal heart rhythm (arrhythmia);
  • Enlarged heart;
  • Cardiac arrest;
  • Sudden death;
  • Respiratory system;
  • Labored breathing;
  • Breathlessness.

Diagnosis amyloidosis

This disease can cause difficulty in diagnosis. In the absence of initial symptoms, disease can lead to death. The doctor does a physical exam and sends the patient to specialists for further analysis. Tests may include the following:

• Биопсия – отбор небольшого образца ткани или органа, needle or cut-off;
• Electrocardiogram (ECG) – измерение электрической активности сердца для диагностики заболеваний сердца;
• Эхокардиограмма – подробное рассмотрение движений сердца на мониторе, using high-frequency sound waves;
• Оценка почечной функции – определяет, whether there is excess protein in the urine;
• Анализ мочи – химическое и микроскопическое исследование мочи на наличие болезни;
• Исследование креатинина сыворотки крови – тест для исследования функции почек и мышечной массы;
• Analysis of levels of blood urea nitrogen (AMK) – анализ крови для оценки функции почек;
• УЗИ брюшной полости – тест, which uses sound waves to study abnormalities of internal organs and blood vessels;
• Скорость проводимости нерва – оценивает состояние нервов.

Treatment amyloidosis

At the moment, there are no treatments for amyloidosis. The main goal is to treat the underlying disease. Treatment to decrease or control symptoms and complications bring only modest success. Treatment includes:

Chemotherapy

Chemotherapy may be in the form of tablets, injection, or through a catheter. It is used, to help improve symptoms and slow the progression of the disease in:

• Primary amyloidosis;
• Вторичном амилоидозе – агрессивное лечение основного воспалительного процесса или болезни;
• Hereditary amyloidosis.

Stem cell transplantation

Stem cells are immature cells in the body. They are transplanted to replace damaged or diseased cells. This process is used for:

• Первичном амилоидозе – используются собственные незрелые клетки крови для переливания. This process is called autologous stem cell transplant. In this method of treatment can additionally be used as medicaments, and chemotherapies;
• Наследственном амилоидозе – клетки пересаживают из донорского органа.

Organ transplantation

Трансплантация – удаление больного органа и пересадка здорового от донора к реципиенту. Usually performed a liver transplant, or kidneys. It may be performed for all major forms of amyloidosis.

Splenectomy

Operation can reduce the production of amyloid. It may be done for primary and secondary amyloidosis.

Prevention amyloidosis

Currently known methods of prevention of amyloidosis.