Familial amyloid polyneuropathy
| Familial amyloid polyneuropathy | |
|---|---|
| Other names | FAP, hereditary transthyretin amyloidosis (hATTR), Corino de Andrade's disease |
| Familial amyloid polyneuropathy has an autosomal dominant pattern of inheritance. | |
| Specialty | Neurology |
| Diagnostic method | Genetic testing |
| Medication | Tafamidis, patisiran |
Familial amyloid polyneuropathy, also called hereditary transthyretin amyloidosis (hATTR),[1][2] or Corino de Andrade's disease,[3] is an autosomal dominant[4] neurodegenerative disease. It is a form of amyloidosis, and was first identified and described by Portuguese neurologist Mário Corino da Costa Andrade, in 1952.[5] FAP is distinct from senile systemic amyloidosis (SSA), which is not inherited, and which was determined to be the primary cause of death for 70% of supercentenarians who have been autopsied.[6] FAP can be ameliorated by liver transplantation.
- ^ Ruberg, Frederick L.; Grogan, Martha; Hanna, Mazen; Kelly, Jeffery W.; Maurer, Mathew S. (11 June 2019). "Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review". Journal of the American College of Cardiology. 73 (22): 2872–2891. doi:10.1016/j.jacc.2019.04.003. PMC 6724183.
- ^ Kaku, Michelle; Berk, John L. (October 2019). "Neuropathy Associated with Systemic Amyloidosis". Seminars in Neurology. 39 (05): 578–588. doi:10.1055/s-0039-1688994.
- ^ Online Mendelian Inheritance in Man (OMIM): Amyloidosis, hereditary, transthyretin-related - 105210
- ^ Ando Y, Ueda M (May 2008). "Novel methods for detecting amyloidogenic proteins in transthyretin related amyloidosis". Frontiers in Bioscience. 13 (13): 5548–58. doi:10.2741/3098. PMID 18508604.
- ^ Andrade C (September 1952). "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves". Brain. 75 (3): 408–27. doi:10.1093/brain/75.3.408. PMID 12978172.
- ^ Coles LS, Young RD (May 2012). "Supercentenarians and transthyretin amyloidosis: the next frontier of human life extension". Preventive Medicine. 54 Suppl (Suppl): S9–11. doi:10.1016/j.ypmed.2012.03.003. PMID 22579241.