Its scientific definition is as follows: Amyloidosis is a rare disease in which abnormally folded proteins form accumulations called amyloid fibrils that accumulate in various tissues and organs, sometimes leading to organ dysfunction, organ failure, and death. But because it’s rare, it’s still very dangerous and not always understood.
The need for understanding and information is at the core of the creation of the ACCACIA-Archipel Guadeloupe Association. EShe held a public meeting at the Rémy Nansouta Center in Pointe-à-Pitre, a way for her to make herself known to be accessible to patients, and especially those who discover they are affected by a form of amyloidosis.
You should first know that there are two main forms of amyloidosis:
Amyloidosis is a rare disease in which abnormally folded proteins form deposits called amyloid fibrils that accumulate in various tissues and organs, sometimes leading to organ dysfunction, organ failure, and death.
Symptoms and severity of amyloidosis vary depending on the type of vital organ affected.
Diagnosis is made by obtaining a tissue sample (biopsy) and examining it under a microscope.
There are many forms of amyloidosis, and more tests are needed to identify the form and its causes.
Treatment depends on the type of amyloidosis.
Proteins are long chains of molecules that take a specific shape when folded. Each protein requires a specific shape for its function. All types of amyloidosis involve proteins that fold abnormally. Abnormally folded proteins clump together and accumulate as amyloid deposits in various tissues of the body.
These deposits are made up of amyloid fibrils, which are abnormal protein fibers that the body cannot easily break down. These deposits disrupt the normal functioning of the organ in which they are located. All these proteins are produced by the body and do not come from food.
Some amyloid proteins are mutated versions of normal proteins. There are other normal proteins that tend to fold abnormally. Some proteins are produced in other diseases (eg Tuberculosis Or arthritis).
Amyloid deposits may occur
The severity of the condition depends on the organs affected by the amyloid deposits.
l’AL amyloidosis (primary) (light chain amyloidosis) occurs with abnormalities plasma cells (a type of immune cell that makes antibodies) that leads to overproduction of abnormal antibodies (proteins) called light chains. Some people with AL amyloidosis also have plasma cell cancer (multiple myeloma). Only about 10% to 20% of people with multiple myeloma develop AL amyloidosis. Typical sites of amyloid deposition in AL amyloidosis are the skin, heart, kidneys, nerves, tongue, intestine, liver, spleen, and blood vessels.
l’AA amyloidosis (secondary) Can develop in response to various diseases that lead to persistent infection or inflammation (eg Tuberculosis, Arthritis And familial Mediterranean fever) and certain types of cancer. AA amyloidosis usually leads to kidney disease, although other organs can also be affected.
l’AF amyloidosis (familial) A group of rare inherited diseases that cause symptoms in adults. Amyloid-producing defects are caused by the presence of an inherited mutation of a specific protein in the blood. These mutated proteins form amyloid fibrils that specifically target the kidneys, nerves, or heart. Mutated transthyretin, a protein produced by the liver, is the most common cause of familial amyloidosis.
ATTRwt (wild-type transthyretin) amyloidosis (formerly called senile systemic amyloidosis) usually affects the heart. It is more common in men than women. ATTRwt amyloidosis is caused by abnormal folding of the normal (wild-type, non-mutated) transthyretin protein. The cause of amyloid accumulation in the heart is not known.
Localized amyloidosis occurs when amyloid is deposited in specific organs or tissues. For example, amyloid deposits occur in the brains of people who suffer Alzheimer’s disease. Accumulation of amyloid substance is believed to be responsible for this disease. Localized amyloid deposits may also form in the skin, digestive tract, respiratory tract, or bladder.
Amyloidosis is sometimes difficult for doctors to diagnose because it causes so many different symptoms, many of which are caused by other diseases. Doctors suspect amyloidosis when people have symptoms affecting multiple body organs or have heart, kidney, or liver failure.
When several family members have heart or nerve problems, AF amyloidosis is suspected. Unexplained cardiac symptoms suggest ATTRWT amyloidosis in elderly men.
Diagnosis is usually based on the analysis of a small amount of abdominal fat taken using a needle inserted into the abdomen (fat pad biopsy). Alternatively, doctors may perform a biopsy by taking a tissue sample from a part of the body that is affected by amyloidosis, such as the heart, kidney, or liver, and examine it under a microscope using special dyes.
In AL amyloidosis: chemotherapy
AA in amyloidosis: treatment of the underlying cause
In amyloidosis due to transthyretin protein deposits: drugs that stabilize transthyretin
Sometimes an organ transplant
(Documentation: MSD Manual)
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