Amyloidosis is a group of diseases characterized by protein alterations. This brings the proteins in question to aggregate and form deposits, which affect the functions of the organs. There are also genetic and hereditary forms, with different clinical pictures depending on the gene involved.
The most common inherited form is transthyretin accumulation amyloidosis. Among the first symptoms is carpal tunnel syndrome, which is followed by an alteration in the sensitivity of the lower limbs. This causes difficulty in performing movements with hands and moving. In some cases, the disease also manifests itself with intestinal problems, deficit of strength, pains in the extremities.
Amyloidosis from gelsolin has two forms:
- Systemic. Protein deposits affect different organs and tissues, leading to corneal dystrophy and dysfunction of the nervous system.
- Not systemic. It is a form that is still poorly characterized, which only causes renal dysfunction.
Those described above are just the most common forms of amyloidosis. There are many other forms of familial and some sporadic amyloidosis. The former are caused by mutations in the genes that code for plasma proteins. In order for them to occur, it is enough to inherit only one mutated copy of the gene.
Diagnosis of various forms of amyloidosis usually starts with clinical observation. Specific genetic tests follow, so as to identify the mutated gene. Unfortunately, there are no definitive therapies at the moment. One can only act on symptoms in an attempt to improve the quality of life of patients. In some cases, liver transplantation blocks the synthesis of the amyloidogenic precursor.