Description amyloidosis
Amyloidosis is a disease in which tissues imposes a specific substance which has a fibrous component (fibrillar, amyloid fibrils) and non-fibrous protein component (amyloid protein). Amyloids are several kinds. All contain serum amyloid P protein, apolipoprotein E, and heparan sulfate.Individual types differ in the fibrous component which is inherent to each species.
The cause of amyloidosis is not known. A common feature of amyloid is the inability of proteases (enzymes cleaving proteins) decompose certain types of proteins which subsequently formed fibrous component of amyloid. Amyloid is then deposited in the blood vessels and tissues. This creates deposits (deposits, plaque) amyloid.
For all types of amyloidosis true fundamental rule that created amyloid can not be removed(some attempts at therapy that would lead to the removal of amyloid from tissues yielded only partial success). Therefore, all of amyloidosis is an effort by the earliest possible diagnosis of an attempt to stop or at least slow the progression of the disease.
Amyloidosis can be classified according to the occurrence of systemic (generalized) and localized,or congenital and acquired. We distinguish primary amyloidosis (single disease) and secondary amyloidosis (due to another disease).
Primary amyloidosis (amyloid light chain disease, AL amyloidosis)
Primary amyloidosis is a systemic disease. Arises on the basis of increased production of immunoglobulins (antibodies that are produced by white blood cells). They include so-called. Light and heavy chains. In primary amyloidosis, the body is not able to decompose and remove the light chains (capacity is exceeded blood cells-macrophages, which can not keep light chains process if they for some reason an increased amount) of which there is a fibrous component of amyloid.
The disease is usually concomitant cancer. Cancer is plasmacytoma (multiple myeloma, formed from white blood cells, white blood cells pathological produce large quantities of immunoglobulins from whose light chains formed amyloid). Sometimes amyloidosis, prevents disease plasmacytoma.
The prognosis of primary amyloidosis is unfavorable, death occurs on average within five years.
Risk factors of primary amyloidosis
The main risk factor is the presence of sometimes unrecognized plasmacytoma. Other factors not yet known.
Prevention of primary amyloidosis
Early detection and removal plasmacytoma.
Symptoms of primary amyloidosis
Main symptoms are based on organ damage. There are signs of cardiac failure from heart disease and weight loss from the impairment of the digestive tract (diarrhea-sometimes leading to dehydration, malabsorption syndrome). They are present weakness, tingling of the extremities (paraesthesia, impaired nervous system) and dizziness. Typical is also the involvement of the tongue, which is noticeably enlarged (macroglossia), further skin damage (blood stains on the skin, skin lesions) typically face. Most internal organs is pathologically enlarged and causes defects in their function (liver-hepatomegaly, splenomegaly spleen-, nodes- lymph adenopathy or lymphadenopathy). The urine can be found called. Bence-Jones protein (light chain immunoglobulins). Gradually there and manifestations of kidney failure.
Treatment of primary amyloidosis
The most important thing is to find a cure present plasmacytoma and limit immunoglobulin supply chains. AL amyloidosis therapy alone is very little success. It consists of chemotherapy and a stem cell transplant. Sometimes they are trying treatment with thalidomide.
Complications primary amiloidózy
The most serious complication is failure of internal organs, especially heart failure and renal failure.Affection of the gastrointestinal tract leads to malabsorpčnímu syndrome (deficiency of certain substances as a result of impaired intestinal wall poorly absorbed). Treatment is usually unsuccessful and the disease ends in death.
Secondary amyloidosis (AA amyloidosis)
It is a systemic disease. Follows other primary diseases with chronic inflammation. It is most often caused by rheumatoid arthritis, osteomyelitis, tuberculosis, pneumonia, Crohn’s disease or cystic fibrosis.
In inflammatory diseases leads to formation of proteins called SAA (serum amyloid-associated protein). Of this protein arises fiber part amyloid.
Risk factors for secondary amyloidosis
The risk is the presence of chronic inflammation. Often amyloidosis occurs in drug addicts (injection site have chronic inflammatory bearing).
Preventing secondary amyloidosis
The only prevention is early detection and prevention of inflammation of chronic inflammation. In its ongoing inflammation is important consistent treatment.
Symptoms of secondary amyloidosis
Symptoms of the disease are due to damage to internal organs. The most commonly affected spleen and liver (hepatosplenomegaly), kidney (renal failure, haematuria-blood in urine, proteinuria-protein in the urine, nephrotic syndrome), gastrointestinal tract (motility disorders-especially diarrhea, malabsorption syndrome), nervous system (peripheral neuropathy) . The heart is affected by secondary amyloidosis rarely compared with primary (heart failure). Further may be present macroglossia (large tongue) and carpal tunnel syndrome (problems of oppression of the nerve, which provides motion and the sensitivity of the hand, especially fingers).
Treatment of secondary amyloidosis
The basis of treatment is the treatment of primary inflammatory disease. For the treatment of amyloidosis are used corticosteroids (immunosuppression, reduced immune response, reduction of proinflammatory factors). The newest approach is called deployment. Biological therapy (substance that acts directly against proinflammatory factors, for example. TNF inhibitor).
Complications secondary amyloidosis
Secondary amyloidosis has poor outcome as primary amyloidosis, but there is a gradual failure of internal organs. The main complications of the disease are similar – kidney failure and malabsorption. Rarely, heart failure may occur.
localized amyloidosis
hemodialysis amyloidosis
It occurs as a complication of dialysis in renal failure. Protein that is the source of the fiber component of amyloid, β2-microglobulin is. This protein is removed failing kidneys and at the same time does not pass through the dialysis membrane. The amount of amyloid is directly proportional to the length of the dialysis therapy. Affected are primarily joint lining and covers tendons and nerves.
Nádorovitý amyloid
It is a localized form of amyloidosis AL with certain plasmacytoma when amyloid saved only in the tumor region. It occurs very rarely.
Alzheimer’s disease (Alzheimer’s disease, Aβ amyloidosis)
One of the main mechanisms of Alzheimer’s disease is the formation of amyloid plaques (deposits, bearings) in the brain. Present amyloid is referred to as Aβ. Formation of amyloid is due to poor disintegration of apolipoprotein E4 (a genetic predisposition to Aβ amyloidosis is the presence of certain variants of the Apo). The enzyme, which in this case fails to cleavage of apolipoprotein is β secretase.
The main risk is genetically determined version of the present proteins and enzymes needed to modify them. Prevention is not known.
The main symptom is a gradual reduction in the patient’s mental abilities. Disease begins as a mild difficulties with memory and passes into periods with dementia. Are there emotional disorder (aggression, anxiety, depression) may be added later and hallucinations. Almost always, sooner or later develop aphasia (speech disorder), apraxia (impaired learned movenments- eg. Problems with dressing) and agnosia (failure detection). Cause disease at a later stage complete loss of independence and death.
Treatment is symptomatic only (nootropics, cognitives, antidepressants, psychotherapy and social assistance).
The most important complications include gradual loss of one’s own personality, loss of memory, loss of independence and death.
Senile amyloid (senile cardiac amyloidosis)
The fibrous component of amyloid is formed by incomplete cleavage of the precursor hormone, ANF (atrial natriuretic hormone), which originates in the heart. Amyloid is deposited not only in the myocardium, but also in the cardiac conduction system. Damage to the conduction system leading to very severe cardiac arrhythmias which can be fatal.
Familial Mediterranean Fever
A hereditary disease that is very rare. It is caused by special pathologically altered protein that is mainly stored on the peritoneum and the linings of joints. There induces inflammation which is in case of the peritoneum (peritonitis) often lethal. The disease is accompanied by a very high fever.
Familial amyloid polyneuropathy
Default protein is transthyrein transporter protein (protein used for the transfer of thyroid hormones). Primarily affects peripheral nerves. The protein is produced in the liver and is the only type amyloidosis, which is fully curable. It is however necessary to liver transplantation.
Other names: primary amyloidosis, amyloid light chain disease, AL amyloidosis, secondary amyloidosis, AA amyloidosis, Hemodialysis amyloidosis, Nádorovitý amyloid, Alzheimer’s disease, Alzheimer’s disease, Aβ amyloidosis, Senile amyloid senile cardiac amyloidosis, Mediterranean familia
