Amyloidosis is caused by abnormal protein deposits in various organs and tissues. This disease is a rare disease that results from abnormal deposits of protein (amyloid) in body tissues and organs. This disease can occur as a separate disease (immunoglobin light chain or AL type of this disease, primary amyloidosis) or as a result of other diseases (secondary amyloidosis). The rare form of this disease is hereditary and is called familial amyloidosis. The familial form of the disease can cause nerve damage known as familial tristritin amyloid polyneuropathy, or TTR-FAP. Symptoms in patients with this disease are caused by the abnormal function of certain organs. Diagnosis of this disease is done by biopsy of the involved tissues. In this article from the section diseasesHello, Dr. Salam, we are investigating the types of amyloidosis.
What is amyloidosis? What are its types?
These diseases are a group of diseases that occur as a result of abnormal protein deposits in different tissues of the body. These abnormal proteins are called amyloid. Based on the specific amyloid structure, the protein can accumulate or spread in a single tissue and affect many organs or tissues.
There are more than 30 amyloid proteins. Each amyloid protein is arranged in a structure called a fibril. Fibrils are low molecular weight proteins derived from precursor proteins. Amyloid fibrils can float in blood plasma and deposit in body tissues. Amyloid protein deposits in a localized area and may not be harmful or may only affect the function of a single tissue in the body.
This form of this disease is called local amyloidosis. This disease, which affects many tissues of the body, is called systemic amyloidosis. The systemic form of this protein causes serious changes in body organs, which include: kidneys (renal amyloidosis), heart (cardiac amyloidosis), skin (cutaneous amyloidosis) and lungs (pulmonary amyloidosis).
The systematic form is divided into three types, which are very different from each other. These types are identified by a two-letter code starting with A. The second letter of the code is the abbreviated name of the protein that accumulates in certain tissues of this disease. The main types of systemic amyloidosis are currently primary (AL), secondary (AA) and hereditary (ATTR) (amyloid apolipoprotein A1 or AApoAl, amyloid apolipoprotein A2 or AApolAll, AGel, ALys, AFib.).
This disease that occurs as its own entity is called primary amyloidosis. The early form of this disease is known as AL amyloidosis, which shows that immunoglobulin light chain proteins are produced. The secondary type of this disease is a disease that is a byproduct of other diseases, such as severe infections (for example, tuberculosis or osteoporosis) or chronic inflammatory diseases (for example, arthritis, rheumatoid, ankylosing spondylitis, and inflammatory bowel diseases). is created
Other forms of this disease include beta 2 microglobulin amyloidosis from chronic kidney dialysis and localized amyloidosis. This disease, which is located in a certain area of the body due to old age, does not have systematic effects on other organs of the body. The protein that is deposited in the brain of Alzheimer’s patients is a type of amyloid.
Primary type
Immunoglobulin light chain or amyloidosis AL (primary amyloidosis), occurs when a specific cell in the bone marrow (blood plasma) spontaneously produces a specific protein part of the antibody called light chain. Deposits in the tissues of people with the primary type of this disease are AL proteins.
It can affect the heart, kidneys, liver and skin. This is one of the most common types of these diseases. AL type of this disease can occur with plasma cell bone marrow cancer called multiple myeloma (less than 20% of AL patients). AL type of this disease, including multiple myeloma cancer, is not associated with other diseases, but is a spontaneous disease that usually requires chemotherapy treatment.
Researchers have shown the benefits of stem cell transplant treatment for the AL type of this disease. In stem cell transplantation, doctors harvest a person’s stem cells and store them while the patient is being treated, and then use them to treat AL amyloidosis by replacing abnormal plasma cells in the bone marrow. use.
AA type of this disease (secondary amyloidosis)
Secondary amyloidosis, or type AA, when the disease is the result of other diseases such as severe infections (eg, tuberculosis or osteoporosis) or chronic inflammatory diseases (eg, rheumatoid arthritis, ankylosing spondylitis, and inflammatory bowel disease) This disease occurs. Tissue amyloid deposits are in the secondary form of AA proteins. The treatment of patients with type AA of this disease is performed as a background treatment in a specific patient.
Familial amyloidosis (hereditary form of this disease)
This familial disease (ATTR, AapoAl, AApoAll, AGel, Alys and AFib) is one of the rarest inherited forms of this disease. It is more common in patients of African descent. Amyloid deposits in most of the hereditary forms of this disease are made of the protein tristritin or TTR, which is made in the liver. The inherited form of the disease is often known as the hereditary intermediate terristin or HTTR variant of the disease. HTTR type of this disease is an inherited autosomal in genetic terms. This means that the child of a person with the disease has a 50% chance of inheriting the disease. This form of this disease is called hereditary amyloidosis. This type of disease can affect the nerves and heart.
Beta 2 microglobulin amyloidosis
This disease occurs when amyloid deposits spread in dialysis patients with long-term kidney failure. Amyloid deposits are made up of the beta-2 microglobulin protein and are found around joints.
Local form
Many localized forms of this disease are the result of amyloid deposits in specific areas of the body and are distinct from systemic forms in which amyloid deposits are present throughout the body. Localized amyloid deposits also occur in the brains of Alzheimer’s patients. Often with increasing age (elderly), in different tissues, amyloid can be locally produced and its deposition causes tissue damage. Prions are infectious amyloid proteins that transmit Koro, Creutzfeldt-Jakob, Fatal Familial Insomnia, and Gerstmann-Strassler-Schinker syndrome.
Read more: The usefulness of pain relievers in preventing Alzheimer’s
What are the causes of this disease?
This disease is caused by changes in proteins that make them insoluble and cause them to be deposited in organs and tissues. These amyloid proteins accumulate in the tissue space between cells. Changes in proteins that turn them into amyloid proteins are due to DNA gene mutations in cells.
What are the risk factors of amyloidosis?
Risk factors for the hereditary form of this disease are related to an ancestor who has the disease. The risk factors of the secondary form of this disease are chronic inflammatory diseases. Age is one of the risk factors for contracting this disease, so that most people over 60 years of age experience this disease. Gender is also one of the risk factors for contracting these diseases, 70% of people with AL are men.
What are the signs and symptoms of these diseases?
Symptoms in patients with this disease are caused by the abnormal functioning of certain organs involved. Until the disease is relatively advanced, there may be no symptoms. Heart, kidney, liver, intestines, skin, nerves, joints and lungs may be affected. As a result, signs and symptoms are vague and can include fatigue, shortness of breath, weight loss, loss of appetite, numbness, tingling, carpal tunnel syndrome, weakness, hearing loss, and bruising and swelling of the hands and feet. .
These diseases in these organs lead to cardiomyopathy, heart failure, peripheral neuropathy, arthritis, malabsorption, diarrhea, damage and liver failure. This disease affects the kidneys, leading to nephrotic syndrome, which is characterized by severe loss of protein in the urine and swelling of the organs.
Which health care professionals treat amyloidosis?
This disease can affect different systems and organs of the body. Therefore, many health professionals may be involved in this care. Health care professionals who can be involved in the treatment of patients with this disease include hematologists, nephrologists, cardiologists, rheumatologists, pulmonologists, neurologists, pathologists, and internists.
What tests do doctors use to diagnose this disease?
Blood and urine tests are used to look for abnormal proteins (protein light chain) that can indicate this disease. Definitive diagnosis of this disease is done by revealing the characteristic of amyloid protein in a biopsy of the involved tissue (such as mouth, intestine, fat, kidney, heart or liver).
A needle biopsy of fat under the skin of the abdomen (fat pad suction), developed for the first time at Boston University, is a simple and minimally invasive method for diagnosing the systemic type of this disease. Pathologists (tissue examiners) can see the protein in the biopsy sample when it is coated with a special dye called Congo red stain. Once the diagnosis is made, testing the affected organs can help determine the extent of the disease.
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What are the treatments for amyloidosis?
There is no cure for this disease. The treatment of this disease depends on the type involved. Initial treatment of this disease includes correction of organ failure and treatment of any underlying disease (eg, myeloma, infection, or inflammation). This disease is often discovered after damage has been done to the organs. Therefore, stabilization of organ function is the main goal of treatment. The most common cause of death in the systemic type of this disease is kidney failure.
Treatment depends on the patient’s overall health, and treatment options include chemotherapy and dexamethasone, which is used for certain cancers and anti-inflammatory measures. African Jews, Spaniards, and Turks inherit a genetic form of the disease called familial Mediterranean fever, which is associated with this disease and is characterized by episodes of fever, joint pain, and abdominal pain.
These attacks can be prevented by using the drug colchicine (colcrys). Armenians and European Jews also have a higher incidence of attacks of familial Mediterranean fever, but do not develop the disease. Doctors can treat patients with AL (formerly called primary amyloidosis) who have reasonable underlying health with the cancer chemotherapy drug (Melphalan/Alkeran) in conjunction with a bone marrow transplant.
These treatments attack the abnormal plasma cells in the bone marrow that cause AL. The results of this treatment were promising and it can be said that this combined treatment has been provided to eradicate this disease in patients, provided that the underlying medical condition of the patient is suitable. These aggressive treatment options with stem cell transplants and high doses of chemotherapy are a real breakthrough in the treatment of patients with this type of disease.
Other treatments include bortezomib (Volcad), cyclophosphamide (Cytoxan), and dexamethasone. The familial form of ATTR is currently curable with a liver transplant. This treatment option requires identifying the specific protein that causes this disease. The renal type of this disease can be treated with a kidney transplant.
What are the complications of this disease?
The complications of this disease are the function of that which affects the organs and tissues and disrupts their function. These diseases lead to lung, liver, heart, nerve and kidney failure. In addition, treatments (eg chemotherapy, stem cell and organ transplants) can have serious side effects.
Read more: What causes heart failure?
What is precognition of amyloidosis? What is the life expectancy of patients?
The outlook depends on the type of disease and its response to treatment. The systematic type of this disease becomes progressively progressive and fatal if not treated. The average survival for people with AL is years, but it depends significantly on what organs are affected. When the heart is involved, the survival rate decreases. People with the familial form of this disease can easily live up to two decades. Again, outlook and life expectancy are affected based on vital organ involvement.
Can this disease be prevented?
There is no prevention for this disease. However, the secondary type of this disease can be prevented by treating the underlying diseases that are associated with inflammation. Genetic counseling can be useful in the familial type of this disease.
Other tips
Dexamethasone is used in the treatment of white blood cell cancers (leukemia) and lymph node cancers (lymphoma). Blood diseases that lead to destruction of the immune system of platelets are also treated with dexamethasone. These diseases include: thrombocytopenia, idiopathic purpura and red blood cells (autoimmune hemolytic anemia). Other diseases treated with dexamethasone are thyroiditis and sarcoidosis.
