Recent advances in the treatment of familial amyloid polyneuropathy.

摘要: The treatment of familial amyloid polyneuropathy (FAP) requires a multidisciplinary approach, mainly neurological and cardiological. It includes specific treatments to stop the progression systemic amyloidogenesis, symptomatic peripheral autonomic neuropathy organs severely involved by amyloidosis (heart, eyes, kidneys). First-line met30 transthyretin (TTR) FAP is liver transplantation, which allows suppression main source mutant TTR, in 70% cases long term double median survival. In severe renal or cardiac insufficiency, combined kidney-liver heart-liver transplantation can be discussed. Tafamidis (Vyndaqel) novel stabilizer TTR which, very early stages FAP, slows progress neuropathy. This drug should proposed stage 1 polyneuropathy. Other innovative medicines have been developed biopharmaceutical companies block hepatic production wild type are harmful late-onset (> 50 years old), including RNA interference therapeutics antisense oligonucleotides, remove deposits (monoclonal antibody antiserum P). Clinical trials first assess patients with late onset non-met30 who less responsive case significant Vyndaqel. Initial assessment periodic investigations important for because frequency impairment, responsible high rate mortality. Prophylactic pacemaker Symptomatic required improve patients' quality life. Familial screening people mutation regular follow up essential. Appropriate clinical examination complementary vital detection disease start therapy as soon possible.