Familial amyloid neuropathy
 | This article may be too technical for most readers to understand. (June 2009) |
| Familial amyloid neuropathy | |
|---|---|
| Specialty | Endocrinology  |
The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant diseases wherein the
Classification
The aggregation of one precursor protein leads to
Due to the rareness of the other types of familial neuropathies, transthyretin amyloidogenesis-associated polyneuropathy should probably be considered first.[5]
"FAP-I" and "FAP-II" are associated with transthyretin.[1][6] (Senile systemic amyloidosis [abbreviated "SSA"] is also associated with transthyretin aggregation.)
"FAP-III" is also known as "Iowa-type", and involves
"FAP-IV" is also known as "
Diagnosis is confirmed by blood tests, organ biopsies, and tissue biopsies. Genetic testing can also be used to confirm a mutation in the TTR gene. Although some people with a hATTR gene mutation may not experience symptoms.
Treatment
Liver transplantation has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation.[9]
In 2011 the European Medicines Agency approved tafamidis for this condition.[10] The FDA rejected the application for marketing approval in the US in 2012 on the basis that the clinical trial data did not show efficacy based on a functional endpoint, and the FDA requested further clinical trials.[11]
References
- ^ PMID 12978172.
- PMID 8696966.
- S2CID 1036192.
- S2CID 205643538.
- S2CID 25723585.
- ^ "Amyloid".
- ^ "Amyloid".
- PMID 8684801.
- ^ "ATTR Famililial Amyloidosis". BU – Amyloid Treatment & Research Program. Archived from the original on 2008-07-06.
- S2CID 256746210.
- ^ Grogan, Kevin (19 June 2012). "FDA rejects Pfizer rare disease drug tafamidis". Pharma Times.