Abstract Details

Title Familial Amyloidosis with Polyneuropathy (FAP): Lessons from the French Model of Care in Last 5 Years from the National Referral Center (NNERF) and National Network for FAP (CORNAMYL)

Topic Peripheral Nerve

Presentation(s) P05 - (-)

Poster/Presentation
Number 063

Objective

Background BACKGROUND: FAP are disabling and life-threatening diseases which are due to endoneurial amyloid deposits and are secondary to a point mutation of transthyretin (TTR) gene with an autosomal dominant transmission. Met30TTR-FAP presents as a small fiber polyneuropathy(SF-PNP) in Portugal with an early onset (<50 years)or an all fiber SensoryMotor Polyneuropathy (AF-PNP) with rare autonomic dysfunction in late onset with lack of positive family story (50%). Diagnosis of FAP is usually late by a mean of 3 years after first symptoms. Therapy include liver transplantation or tafamidis. In 2006, a national center was certified by the Ministry of Health; a network of care was built 2 years ago at the national level with 10 regional centers to improve diagnosis and care of the FAP (Cornamyl).

Design/Methods DESIGN/METHODS: All patients with TTR-FAP diagnosed in regional centers and were referred to NNERF. General characteristics and phenotypes were specified. To assess the incidence of new cases of TTRFAP, their characteristics and geographic origin were specified in the (2008-2012) period.

Results RESULTS: 1)There were 119 new cases of FAP,with a number of new cases/year that switched from 10 in 2008 to 40 in 2012, 2)the mean age was 59 years (22-89)and a Portuguese origin in 22%, 3)The number of TTR gene mutations identified reached 35 increasing by 7 with 3 new mutations, 4)FAP have been identified in 12 new departments reaching 79/100, 5)There were 5 phenotypes of neuropathy identified: SF-PNP (38%),multifocal polyneuropathy of upper limbs (24%), AF-PNP (18%), ataxic neuropathy(15%), motor neuropathy(0.8%).

Conclusions CONCLUSIONS: The labelling of a national referral center and a national network for FAP allowed to identify many new cases of FAP, TTR gene mutations and phenotypes in 79% of French territory. This model could be applied to other large countries.

Authors/Disclosures
David D. Adams (APHP) PRESENTER	David D. Adams has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for ALNYLAM. David D. Adams has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer.
	No disclosure on file
Marie Theaudin, MD (Centre Hospitalier)	No disclosure on file
	No disclosure on file
Pierre Lozeron (C. H. de Bicetre)	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file

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