
pmid: 25123367
Hereditary amyloidosis is an autosomal dominant fatal multisystem disease caused by extracellular deposition of misfolded proteins and, therefore represents a hereditary protein folding or deposition disease that leads to progressive organ damage and eventually death. In most instances mutations within the transthyretin gene are the underlying cause. The main manifestation is a rapidly progressing axonal sensorimotor and autonomic polyneuropathy (familial amyloid polyneuropathy, FAP). Cardiac involvement is frequent in FAP and additional manifestations include the gastrointestinal tract and the eyes. A second manifestation type is cardiomyopathy with little or no polyneuropathy (familial amyloid cardiomyopathy, FAC). For therapy, orthotopic liver transplantation has been established for 25 years. Recently, the oral agent tafamidis, a transthyretin stabilizer, was licensed for treatment of stage 1 polyneuropathy. Additional treatment options are currently being studied.
Amyloid Neuropathies, Familial, Multiple Organ Failure, Administration, Oral, Humans, Prealbumin, Genetic Predisposition to Disease, Liver Transplantation
Amyloid Neuropathies, Familial, Multiple Organ Failure, Administration, Oral, Humans, Prealbumin, Genetic Predisposition to Disease, Liver Transplantation
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