What is amyloidosis? This manifests the symptoms of the disease that deceives and confuses doctors
The amyloidosis thus called is a rare disease in Spain, which is triggered when a The protein called amyloid is deposited in the organs Irregularly, causing the functioning of these organs as they should. From The kidneys or liver, in the heart, through the spleen, the nervous system or the digestive tractThere are more parts of the body that can suffer this important anomaly.
The manifestation of this disease can be different in some people than in others, which causes confusion in doctors in terms of diagnosis, which may require up to four years. In the words of Dr. Ramón Lecumberri Villamena, co -director of amateor and the emotaterapy service of the clinic of the University of Navarra, “is essential correctly identify the type of protein that is deposited As amyloid material, since the treatment differs depending on it. “
What is amyloidosis and the type of protein can be involved
Amyloidosis is gathered A heterogeneous whole of diseases “Which consists in the abnormal folding of a precursor protein that is finished to deposit in the form of fibrillar structures in various organs and systems (heart, kidney, liver, intestine, nervous system) that alter its operation” University of Navarra clinic.
In total, and so far they have been described up to 30 proteins involved in the appearance of the different variants of amyloidosis, And to be essential to find out how to identify which type of protein is responsible for the “abnormal” deposit in any situation, in order to adapt the most effective treatment.
These are the symptoms of Amanidosis
Since this disease can affect a large number of organs, The early diagnosis is vital to prevent these deterioration bodies Irreversibly, although the symptoms are not specific and vary from one people to another (even among the members affected by the same family).
When the people affected are the kidneys, the most common is the loss of protein, in particular the albumin, through urine (proteinuria). When the albumin levels in the blood go down, generalized edemas may appear. If the organ in which the protein accumulates is the heart, the manifestations resemble heart failure: Tiredness, arrhythmias, peripheral edema and fatigue When effort is made.
In the event that the amyloid deposits are trained in the peripheral nervous system, Antieks could occur and a sensation of shortening in the limbs. When it affects the digestive tract, the bad absorption of food and a little intestinal motility are activated, with Diarrhea (sometimes with bleeding) or constipation extreme.
Why does amyloidosis confuse doctors?
When experts talk about the difficult diagnosis of this Fundamentally hereditary diseaseLittle prevalent but quite serious, they refer to the fact that the symptoms of Amanidosis are so disparate, widespread and not very conclusive that they could be blamed separately to other more common diseases. So diagnosis can take years.
In most cases, a Biopsy of the fabrics concerned in which the presence of amyloid deposits is demonstrated by the coloring of Red Congo. Although sometimes it is necessary to perform a renal or cardiac biopsy, The most common is a biopsy of abdominal fat, bone marrow or marrow.
As regards the risk factors, beyond the hereditary component, advanced age is distinguished (Most diagnoses are about 65 age). In addition, experts warn that having an infectious disease or suffering Chronic inflammation Increases the risk of a type of amyloidosis. Dialysis is another entrance door of the pathology, since abnormal proteins in the blood could accumulate with this technique and deposit in the tissues.
References
Fl side side, MJ Ferreiro Egueiro, B. Cabana González, V. Diez Diez, S. Maceda Villaiño, Jr Antúnez López. ‘Amiloidosis’. Pathological anatomy University of Santiago de Compostela. Vol. 36. N. 4. Published in the magazine Elsevier Medicine. Consult online https://www.elsevier.es/es-revista-Medicine- Integral-63- Articulo-amiloidosis-10022203 April 7, 2025.
