Amyloidosis

Amyloidosis is a disease characterized by the abnormal buildup of a protein called amyloid in the body's tissues. This progressive accumulation of amyloid can affect the normal functioning of organs and tissues, interfering with their structure and function.

Amyloid is a misfolded protein that is deposited in the form of insoluble fibers in different tissues, such as the heart, kidneys, liver, nervous system, lungs and other organs. As these amyloid fibers accumulate, they can interfere with the normal function of organs and tissues, causing damage and symptoms specific to the affected organ.

There are different types of amyloidosis, the most common being:

Systemic amyloidosis: In this form, amyloid is deposited in various organs and tissues of the body, such as the heart, kidneys, liver, nervous system, among others. Systemic amyloidosis can be primary (idiopathic) or secondary, associated with other diseases such as multiple myeloma, chronic inflammatory disease or Alzheimer's disease.

Hereditary or familial amyloidosis: It is caused by inherited genetic mutations that result in the abnormal production of amyloid precursor proteins. Examples include familial transthyretin amyloidosis (ATTR), familial apolipoprotein A1 amyloidosis (AApoAI), and familial apolipoprotein A2 amyloidosis (AApoAII).

The symptoms and clinical manifestations of amyloidosis vary depending on the organs affected. They may include fatigue, weakness, shortness of breath, heart problems, neuropathy, kidney disorders, among others. The diagnosis of amyloidosis is usually made by biopsy of an affected organ to examine the presence of amyloid.

Treatment of amyloidosis depends on the type and extent of the disease, and may include therapies aimed at reducing the production of amyloid precursor proteins, organ transplantation, treatment of underlying diseases, and symptom management. Proper evaluation and follow-up by a medical team specialized in amyloidosis is essential.