Amyloidosis is an orphan disease with approximately 50.000 patients affected each year. The body´s own proteins are misfolded due to a mutation or other factors like an inflammation. Because of this the proteins cannot be split. These proteins (amyloids) are deposited on various tissues and organs and can cause organ lesions.
The kind of misfolded protein manifests itself in different forms of amyloidosis. The most common form is the AL-Amyloidosis (primary amyloidosis, induced by plasma cells) followed by AA-Amyloidosis (induced by serum amyloid A). The most common hereditary form of amyloidosis is the hATTR-Amyloidosis which is induced by a mutated transthyretin (TTR). Transthyretin is produced in the liver.
Different organs can be damaged by deposition of misfolded proteins. If mainly nerves are affected, the disease is a familial amyloid polyneuropathy (FAP). In contrast, if the heart is affected, the disease form is familial amyloid cardiomyopathy (FAC).
After onset of hATTR-Amyloidosis, patients have a survival rate of only 5-15 years. Due to the fact that transthyretin is produced in the liver, a liver transplantation is a possible treatment option. In the meantime, there are other drugs on the market which stabilize transthyretin and prevent further depositions. Already manifested damages by deposition of proteins are irreversible. A short time ago RNA based drugs were approved, showing in clinical studies to be an effective option to reduce the concentration of mutated transthyretin.
In a patient support program our nurses can help patients with their medication. As a result, sources of error can be minimized. In addition, quality of life of the patients can be improved by consistent therapy and improved adherence.