Amyloidosis : Does this term mean anything to you? When the French association against amyloidosis asked this question in the form of a micro-sidewalk to passers-by in a street, no one was able to answer. Yet, this disease affects 10,000 people in France. Explanations.
What are his symptoms of Amyloidosis?
Amyloidosis can affect various organs, the liver, the digestive system, the kidneys, the heart, the nervous system… And in fact, she has a lot of possible symptoms. A rare case, amyloidosis does not really have a list of specific symptoms, due to the multiplicity of organs affected.
Symptoms get worse over time and can lead to cerebral hemorrhage, heart or kidney failure… They are extremely numerous.
Here are the main symptoms:
- dizziness,
- shortness of breath due to damage to the respiratory and laryngeal tracts,
- digestive disorders,
- tiredness,
- loss of appetite,
- paresthesias of the fingers and toes.
Why is amyloidosis so difficult to diagnose?
Because of its symptoms, amyloidosis is difficult to diagnose. To detect it, we first adopt a clinical approach. Certain signs can guide the diagnosis, such as a “big tongue” or even “bruises”, underlines the CHU of Poitiers. Symptoms start off as mild before getting worse, so it needs to be detected as soon as possible.
In case of suspicion, a biopsy is performed, then the sample is analyzed using an immunofluorescence technique. “Thanks to the antibodies added to the sample, the protein deposits appear highlighted under the microscope“, explains the CHU of Poitiers, which has the necessary tools to do so.
Where is she from ? Who does she touch?
Amyloidosis is “linked to the deposit of abnormal proteins, which gradually accumulate in tissues and organs, disrupting their functioning”, explains the CHU of Poitiers. We count approximately 25 types of different proteins at the origin of this pathology. “Amyloidosis can be de novo or secondary to infectious, inflammatory or neoplastic diseases”, specifies the MSD manual.
There are four types of this disease: AL amyloidosis, AA amyloidosis and so-called “wild” amyloidosis, hATTR amyloidosis. “Some are genetic, others are linked to the increased production of amyloidosis-forming proteins, such as the SAA protein (AA amyloidosis) during chronic inflammatory or infectious diseases, or an immunoglobulin light chain produced by abnormal cell proliferation in the bone marrow (AL amyloidosis)”.
If there is a form of the disease (AL) which mainly affects people over 60, it can affect many age groups, between 30 and 90 years old explains the association. In addition, amyloidosis affects all genders.
Can amyloidosis be treated? Is it life-threatening?
The earlier it is taken, the better the prognosis. Taken too late, it can be fatal. “The prognosis depends on the type of amyloidosis and the organ system affectedbut with appropriate, disease-specific supportive care, many patients have an excellent prognosis for life expectancy,” adds the MSD manual. Some types are more difficult to treat, such as AL amyloidosis, complicated by severe cardiomyopathy, survival is estimated at less than one year.
Most forms of amyloidosis have treatment, but some are still experimental. Autologous stem cell transplants, gene blocking drugs, stabilizing drugs, anti-TNF,… there are many ways to support and relieve patients with amyloidosis.
Sources:
- University Hospital Poitiers
- French association against amyloidosis
- MSD Manual