What is amyloidosis? These are the symptoms of the disease that confuses and deceives doctors.
Amyloidosis is a rare disease in Spain. It occurs when a protein called amyloid is deposited irregularly in organs , causing them to malfunction. From the kidneys and liver to the heart, the spleen, the nervous system, and the digestive tract , many parts of the body can be affected by this serious abnormality.
The manifestations of this disease can vary from person to person, leading to confusion among doctors regarding diagnosis, which can take up to four years. According to Dr. Ramón Lecumberri Villamediana, co-director of the Hematology and Hemotherapy Service at the University of Navarra Clinic, "it is essential to correctly identify the type of protein being deposited as amyloid material, as treatment differs depending on the type of protein."
What is amyloidosis and what types of proteins may be involved?
Amyloidosis is a heterogeneous group of diseases "consisting of the abnormal folding of a precursor protein that ends up depositing in the form of fibrillar structures in various organs and systems (heart, kidney, liver, intestine, nervous system), altering their function," explains the University of Navarra Clinic.
In total, up to 30 proteins involved in the development of different types of amyloidosis have been described to date, and it is essential to know how to identify which type of protein is responsible for the 'abnormal' deposit in each situation, in order to be able to adapt the most effective treatment.
These are the symptoms of amyloidosis
Since this disease can affect a large number of organs, early diagnosis is vital to prevent these organs from deteriorating irreversibly, although the symptoms are nonspecific and vary from person to person (even among affected members of the same family).
When the kidneys are affected, the most common cause is protein loss, especially albumin, through the urine ( proteinuria ). When albumin levels in the blood drop, generalized edema may develop. If the heart is the organ where the protein accumulates, the symptoms resemble heart failure : fatigue, arrhythmias, peripheral edema, and fatigue upon exertion.
If amyloid deposits form in the peripheral nervous system, tingling and a sensation of shortening in the extremities may occur. When it affects the digestive tract, it triggers poor absorption of nutrients and limited intestinal motility, with diarrhea (sometimes with bleeding) or extreme constipation .
When experts talk about the difficult diagnosis of this primarily hereditary, rare but quite serious disease , they mean that the symptoms of amyloidosis are so disparate, widespread, and inconclusive that they could be attributed separately to other, more common diseases. Therefore, diagnosis can take years.
In most cases, a biopsy of the affected tissue is required, demonstrating the presence of amyloid deposits using Congo Red staining. Although a kidney or heart biopsy is occasionally necessary, the most common biopsy is a biopsy of abdominal fat, lip, or bone marrow.
Regarding risk factors, beyond the hereditary component, advanced age stands out ( most diagnoses are around 65 years old). Furthermore, experts warn that having an infectious disease or chronic inflammation increases the risk of a type of amyloidosis. Dialysis is another gateway to the disease, since this technique can cause abnormal proteins to accumulate in the blood and be deposited in the tissues.
ReferencesFL Lado Lado, MJ Ferreiro Regueiro, B. Cabana González, V. Díez Díez, S. Maceda Vilariño, JR Antúnez López. 'Amyloidosis'. Pathological Anatomy, University of Santiago de Compostela. Vol. 36. No. 4. Published in the medical journal Elsevier. Accessed online at https://www.elsevier.es/es-revista-medicina-integral-63-articulo-amiloidosis-10022203 on April 7, 2025.
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