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Familial amyloid neuropathy

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Title: Familial amyloid neuropathy  
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Familial amyloid neuropathy

Familial amyloid neuropathy
Classification and external resources
ICD-10 E85.1
ICD-9-CM 277.3
MeSH D028227

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]

Classification

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.

Due to the rareness of the other types of familial neuropathies, transthyretin amyloidogenesis-associated polyneuropathy should probably be considered first.[4]

"FAP-I" and "FAP-II" are associated with transthyretin.[1][5] (Senile systemic amyloidosis is also associated with transthyretin aggregation.)

"FAP-III" is also known as "Iowa-type", and involves apolipoprotein A1.[5]

"FAP-IV" is also known as "Finnish-type", and involves gelsolin.[6]

Fibrinogen, apolipoprotein A1, and lysozyme are associated with a closely related condition, familial visceral amyloidosis.

Treatment

Liver transplantation has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation.[7]

Alternatively, a European Medicines Agency approved drug Tafamidis or Vyndaqel now exists which stabilizes transthyretin tetramers comprising wild type and different mutant subunits against amyloidogenesis halting the progression of peripheral neuropathy and autonomic nervous system dysfunction.[8]

Currently there are two ongoing clinical trials undergoing recruitment in the United States and worldwide to evaluate investigational medicines that could possibly treat TTR. [9][10]

References

  1. ^ a b
  2. ^
  3. ^
  4. ^
  5. ^ a b
  6. ^
  7. ^
  8. ^
  9. ^ https://clinicaltrials.gov/ct2/show/NCT01960348
  10. ^ http://apollotrial.com/

External links

  • Reference centre for familial amyloid polyneuropathy
  • World wide clinical trial for the evaluation of an investigational medicine for the possible treatment of Familial Amyloidotic Polyneuropathy (FAP
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