Familial amyloid neuropathy

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Familial amyloid neuropathy
ICD-10 E85.1
ICD-9 277.3
MeSH D028227

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The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves.

Classification

The precursor proteins are: transthyretin (ATTR, the most commonly implicated protein), apolipoprotein A1, and gelsolin.

Due to the rareness of the other types, it is sometimes associated with transthyretin alone.[1]

"FAP-I" and "FAP-II" are associated with transthyretin.[2] (Senile systemic amyloidosis is also associated with transthyretin.)

"FAP-III" is also known as "Iowa-type", and involves apolipoprotein A1.[2]

"FAP-IV" is also known as "Finnish-type", and involves gelsolin.[3]

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

Treatment

Liver transplantation has demonstrated moderate improvement in ATTR familial amyloidosis.[4]

References

  1. Delahaye N, Rouzet F, Sarda L, et al (July 2006). "Impact of liver transplantation on cardiac autonomic denervation in familial amyloid polyneuropathy". Medicine (Baltimore) 85 (4): 229–38. doi:10.1097/01.md.0000232559.22098.c3. PMID 16862048.
  2. 2.0 2.1 Amyloid.
  3. Akiya S, Nishio Y, Ibi K, et al (July 1996). "Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV". Ophthalmology 103 (7): 1106–10. PMID 8684801.
  4. BU.

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