What is it?
These are pathologies characterized by abnormalities in the formation of proteins that cause a change in their structure, causing the deposition of insoluble amyloid fibrils in the extracellular spaces of organs and tissues. Depending on the characteristics of the proteins, the deposition can be localized or affect almost any organ. The classification is very difficult as these forms can be of neoplastic, inflammatory, genetic, or iatrogenic origin. The most common form is AL (so-called primitive) amyloidosis, characterized by the deposition of fragments of monoclonal immunoglobulin light chains: it can occur on its own or during multiple myeloma. Another relatively common form is the so-called inflammatory amyloidosis AA, which occurs as a result of the accumulation of amyloid A proteins in chronic inflammatory diseases (osteomyelitis, tuberculosis, leprosy, Mediterranean familial fever, connective tissue diseases, etc.). Finally, hereditary forms that can determine the deposition of molecules derived from various proteins (transthyretin, apolipoproteins, cystatin c, gelsolin, fibrinogen alpha chain, and many others) are less common.
Which are the symptoms?
Clinical manifestations are very diverse and include damage to organs, especially kidney, heart, liver, skin, gastrointestinal tract, nervous system, endocrine system, joints and lungs.
How is it diagnosed?
Diagnosis is usually made by biopsy with appropriate staining. If confirmed, it will be necessary to clarify which proteins are involved in immunocytochemical studies and any genetic studies.
How is it treated?
Different treatments are provided for each form. AL amyloidosis is treated in the same way as multiple myeloma. In AA amyloidosis, treatment of the forms of chronic inflammation that causes it can help. Colchicine is useful in forms associated with familial Mediterranean fever. In other forms, treatment is very varied, and many experiments in this direction are currently being carried out.
Where do we treat it?
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