Familial amyloid neuropathy


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

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

Contents

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 great efficacy in ATTR familial amyloidosis due to Val30Met mutation .[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. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?an=00005792-200607000-00005. 
  2. ^ a b "Amyloid". http://neuromuscular.wustl.edu/nother/amyloid.htm#transthyretin. 
  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. ^ "ATTR Famililial Amyloidosis". BU – Amyloid Treatment & Research Program. http://www.bu.edu/amyloid/doctors/features/clinical-attr.html. 

External links


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