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Amyloid. 2012 Jun;19 Suppl 1:30-3. doi: 10.3109/13506129.2012.674076. Epub 2012 Apr 18.

Familial amyloidotic polyneuropathy type IV--gelsolin amyloidosis.

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Department of Plastic and Reconstructive Surgery, Töölö Hospital of Helsinki University Central Hospital, PO Box 266, 00029 HUS, Finland.


Familial amyloidotic polyneuropathy type IV, or Gelsolin amyloidosis (GA), is a rare condition caused by G654A or G654T mutation in gelsolin gene at 9q32-34. Gelsolin seems essential in many processes, including inflammation, cell motility, neural recovery, apoptosis and even carcinogenesis. So far reported from many European countries, USA, Japan, Iran and Brazil, GA is probably still underdiagnosed. The typical diagnostic triad includes corneal lattice dystrophy, progressive bilateral facial paralysis and cutis laxa. Patients present with progressive cranial and peripheral neuropathy, eye symptoms, usually mild proteinuria, and cardiac conductive disturbances with age. Central nervous system symptoms are rare. Gelsolin amyloid collection in tissues is widespread. To date, treatment is symptomatic. Regular check-ups with ophthalmologist are recommended. Plastic surgery relieves the functional symptoms caused by facial paralysis and loose, hanging facial skin.

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