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 autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation. [1] [2] [3]
The aggregation of one precursor protein leads to peripheral neuropathy and/or autonomic nervous system dysfunction. These proteins include: transthyretin (ATTR, the most commonly implicated protein), apolipoprotein A1, and gelsolin. [4]
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 apolipoprotein A1. [7]
"FAP-IV" is also known as " Finnish-type", and involves gelsolin. [8]
Fibrinogen, apolipoprotein A1, and lysozyme are associated with a closely related condition, familial visceral amyloidosis.
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.
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]
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 autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation. [1] [2] [3]
The aggregation of one precursor protein leads to peripheral neuropathy and/or autonomic nervous system dysfunction. These proteins include: transthyretin (ATTR, the most commonly implicated protein), apolipoprotein A1, and gelsolin. [4]
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 apolipoprotein A1. [7]
"FAP-IV" is also known as " Finnish-type", and involves gelsolin. [8]
Fibrinogen, apolipoprotein A1, and lysozyme are associated with a closely related condition, familial visceral amyloidosis.
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.
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]